Association For Molecular Pathology et al v. United States Patent and Trademark Office et al

Filing 221

DECLARATION of Robert L. Nussbaum, M.D. in Opposition re: 175 MOTION for Judgment on the Pleadings., 152 MOTION for Summary Judgment.. Document filed by American Society For Clinical Pathology, College of American Pathologists, Association For Molecular Pathology, Haig Kazazian, Arupa Ganguly, Wendy Chung, Harry Ostrer, David Ledbetter, Stephen Warren, Ellen Matloff, Elsa Reich, Breast Cancer Action, Boston Women's Health Book Collective, American College of Medical Genetics, Lisbeth Ceriani, Runi Limary, Genae Girard, Patrice Fortune, Vicky Thomason, Kathleen Raker. (Attachments: # 1 Exhibit 1, # 2 Exhibit 2)(Hansen, Christopher)

Association For Molecular Pathology et al v. United States Patent and Trademark Office et al

Doc. 221 Att. 1

EXHIBIT 1

Dockets.Justia.com

Date Prepared: January 19, 2010.

CURRICULUM VITAE

ROBERT LUKE NUSSBAUM Address
150 Woodland Avenue San Francisco, CA 94117

Business Phone
[phone] [phone] (FAX) E-mail: [e-mail]

Current Academic Rank and Series
Professor of Medicine In Residence, UCSF 2006 to present Holly Smith Distinguished Professor of Science and Medicine Professor of Neurology, UCSF (Joint Appointment) Member, UCSF Institute for Human Genetics

Department
Medicine Administrative Title(s) Chief, Division of Medical Genetics

EDUCATION
1967-1971 1971-1975 1975-1976 1976-1977 1977-1978 1978-1981 1981-1983 Harvard College cum laude A.B. Applied Mathematics Harvard Medical School & M.D. Medicine Harvard-MIT Program in Health Sciences and Technology. Intern in Internal Medicine, Barnes Hospital, Washington University, St. Louis, Mo. Junior Assistant Resident, Barnes Hospital, Washington University, St. Louis, Mo. Senior Assistant Resident, Barnes Hospital, Washington University, St. Louis, Mo. (Chief Resident, John Cochran VA Hospital, Wash University service) Fellow in Medical Genetics, Baylor College of Medicine, Houston, TX Associate, Howard Hughes Medical Institute, Baylor College of Medicine.

LICENSES, CERTIFICATIONS
4/26/06 California Medical License C52306, exp. 2/28/2010 (active) 1

12/31/94 12/3/76 2/21/81 10/8/84 9/13/78 3/19/82 9/24/93 7/28/94

Maryland Medical License D46971, exp. 9/30/07 (Inactive) Missouri Medical License (Inactive) Texas Medical License (Inactive) Pennsylvania Medical License (Inactive) Certified, American Board of Internal Medicine #65308, 9/13/78 Certified, American Board of Medical Genetics in Clinical Genetics #1367 Certified American Board of Medical Genetics, Clinical Molecular Genetics #93220; Recertified, 8/15/2002 Basic Project Officer Course, DHHS

EMPLOYMENT Principal Positions Held
1981-1984 1983-1984 1984-1993 1984-1989 1989-1993 1993-1994 1993-2006 1995-2006 20062007 Assistant Professor of Medicine, Baylor College of Medicine Associate Investigator, Howard Hughes Medical Institute at Baylor Associate Investigator, Howard Hughes Medical Institute at UPenn Assistant Professor of Human Genetics, University of Pennsylvania, School of Medicine (Primary) Associate Professor of Human Genetics University of Pennsylvania School of Medicine Professor of Genetics, University of Pennsylvania School of Medicine Chief, Genetic Disease Research Branch, NHGRI Acting Chief, Inherited Disease Research Branch, NHGRI Professor of Medicine and Chief, Division of Medical Genetics, Department of Medicine, UCSF Professor of Neurology (Secondary), UCSF

Ancillary Positions Held
1984-1989 1984-1993 1989-1993 1991-1993 1991-1994 1993-1994 1994-2000 1994-2006 1996-2006 20062006Assistant Professor of Pediatrics, University of Pennsylvania, School of Medicine (Secondary) Physician, Division of Human Genetics, Children's Hospital of Philadelphia Associate Professor of Pediatrics, University of Pennsylvania School of Medicine Associate Professor of Medicine, University of Pennsylvania School of Medicine Director, Molecular Biology Graduate Group, University of Pennsylvania Professor of Pediatrics, and Medicine, University of Pennsylvania School of Medicine Adjunct Professor of Genetics, University of Pennsylvania School of Medicine Clinical Staff, NIH Clinical Center Project Officer, Center for Inherited Disease Research Member, Executive Committee, UCSF Institute for Human Genetics Faculty, Biomedical Sciences Graduate Group, UCSF 2

20062008-

Consultant in Genetics, UCSF Medical Center Director, Molecular Medicine Pathway to Discovery, UCSF School of Medicine

Clinical Training and Experience
1975-1976 1976-1977 1977-1978 1978-1981 Intern in Internal Medicine, Barnes Hospital, Washington University, St. Louis, Mo. Junior Assistant Resident, Barnes Hospital, Washington University, St. Louis, Mo. Senior Assistant Resident, Barnes Hospital, Washington University, St. Louis, Mo. (Chief Resident, John Cochran VA Hospital, Wash University service) Fellowship, Medical Genetics, Baylor College of Medicine, Houston, TX

HONORS AND AWARDS
1975 1977 1978-80 1986 1987 1989 1989 1989 1990 1991 1993 1994 1996 1996 1996 1996 1998 1999 2000 2003 2003 2004 2004 2008 Alpha Omega Alpha Outstanding Medical Resident, Barnes Hospital Arthritis Foundation Research Fellowship Medical Research Award, Lowe's Syndrome Association Elected Member, American Society for Clinical Investigation Dean's Award for Excellence in Basic Science Teaching, University of Pennsylvania Master of Arts (honorary), University of Pennsylvania Member, Human Genome Organization Leonard Berwick Memorial Teaching Award, University of Pennsylvania Sir Clavering Fison Visiting Professor, Institute for Child Health, Hospital for Sick Children, Great Ormond Street, London, UK Medical Research Award, Lowe's Syndrome Association Morehouse School of Medicine Human Genome/Molecular Medicine Symposium Lecturer Medical Research Award, Lowe's Syndrome Association Elected Member, Association of American Physicians NHGRI Director's Award NIH Director's Award NHGRI Director's Award (Group award) G. Burroughs Mider Lectureship, National Institutes of Health Special Service Award, NIMH NHGRI Director's Award (Group Award) Forbes Lectureship, Medical College of Virginia Elected Member, Institute of Medicine of the National Academies of Science. NHGRI Director's Distinguished Service Award Legacy Award, Lowe's Syndrome Association, awarded in recognition of over two decades of service and commitment to patients and families with Lowe Syndrome.

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PROFESSIONAL ACTIVITIES Membership in Professional Organizations
198019861989199120032006American Society of Human Genetics Society for Inherited Metabolic Disease Human Genome Organization American College of Medical Genetics American Society of Cell Biology Society for Neuroscience

Work for Professional Societies and Organizations
Completed 1988-1991 1990-1992 1992-1996 1998-2000 1995, 1997 1999-2002 1997-2000 2000-2006 2004 2005-2008 2006 2006-2008 2006-2008 2007 Ongoing 19921995200620062007Co-Chair, Xq committee, International Human Gene Mapping Conferences HGM 9.5, (1988), 10 (1989), 10.5 (1990) and 11 (1991) American Society of Human Genetics Annual Meeting Program Committee (Chairman of Program Committee, 1992 meeting) American Society of Human Genetics Board of Directors American Society of Human Genetics Awards Committee Gordon Conference on Molecular Genetics (Co-Chair 1995, Chair 1997) Molecular Genetic Pathology Test Committee, American College of Pathology American College of Medical Genetics, Board of Directors (Chairman of Program Committee, 1999 meeting) Board of Scientific Overseers, The Jackson Laboratory President, American Society of Human Genetics American Society of Human Genetics Awards Committee ACCE Guidelines Committee on Warfarin Dosing, American College of Medical Genetics Association of Professors of Human and Medical Genetics representative for UCSF Scientific Review Committee, the Parkinson's Study Group Personalized Health Care Expert Panel, Dept. of Health and Human Services

March of Dimes/Birth Defects Foundation Clinical Advisory Committee Medical Advisory Board, The Lowe Syndrome Association External Advisory Committee, The Parkinson's Institute dbGaP Working Group, NCBI, NLM Member, Institute of Medicine Roundtable on Translating Genomic Based Research for Health. 2009-OMIM Scientific Advisory Board 2009-Scientific Advisory Board, Institute of Genetics, Canadian Institutes for Health Research.

4

Service to Professional Publications
1987-89 1989-1993 1992-1998 1994-1996 19971997-2003 1998Editorial Board, American Journal of Human Genetics Editorial Board, Cytogenetics and Cell Genetics Communicating Editor, Human Mutation Editorial Board, Human Genetics Editorial Board, Journal of Clinical Investigation Editor-in-Chief, Human Genetics (for Asia and Americas) Editorial Board, Human Molecular Genetics, American Journal of Medical Genetics, Functional and Integrative Genomics, Journal of Clinical Investigation, Genome Medicine. 2006Section Editor, Genetics in Medicine Ad hoc Reviewer for Nature, Nature Genetics, Nature Neuroscience, Neurology, Journal of Neuroscience, Neurogenetics, American Journal of Human Genetics, Molecular and Cellular Biology, Journal of Cell Biology

INVITED PAPERS, LECTURES, PRESENTATIONS (Since 2004)
2004 Columbia College of Physicians and Surgeons, New York, NY Fox-Chase Cancer Center, Philadelphia, PA University of Western Ontario, London, ON, Canada Thomas Jefferson University School of Medicine, Philadelphia, PA Bruce Rapaport Symposium, Maimonides Medical Center, Haifa, Israel Jackson Laboratory 45th Annual Short Course in Medical and Mammalian Genetics (invited speaker). American Medical Writers' Association. University of California Program in Human Genetics, San Francisco, CA Lowe Syndrome Trust International Meeting on Lowe Syndrome University College London and Guy's and St. Thomas' Hospital Medical School 2005 Astra-Zeneca Neurodegeneration meeting Scottsdale, AZ

Molecular Genetic Approach to Parkinson Disease Cancer Genetics Sodium-dependent vitamin c transporter Molecular Genetic Approach to Parkinson Disease Human Genome Project Molecular Genetic Approach to Parkinson Disease "Genetics 101" ­ Introduction to Human Genetics for medical writers Molecular Genetic Approach to Parkinson Disease Plenary Talk on Lowe Syndrome Molecular Genetic Approach to Parkinson Disease Molecular Genetic Approach to Parkinson Disease

5

University of California, Irvine Children's Hospital of Philadelphia The Jackson Laboratory 46th Annual Short Course on Medical and Experimental Mammalian Genetics Gordon conference on Human Molecular Genetics and Genomics Brigham and Women's Hospital Harvard Medical School continuing Medical Education Course in Genetics Brigham and Women's Hospital Medical Grand Rounds Cold Spring Harbor Laboratory Banbury Conference on mitochondria in neurodegeneration and aging 2006 Parkinson Disease and Diffuse Lewy Body Disease Symposium, World Parkinson;s Congress, Washington DC February 22, 2006 World Parkinson's Disease Congress Washington, DC, February 23, 2006 The Parkinson's Institute Annual Retreat Asilomar, CA April 21, 2006 Short Course in Medical and Mammalian Genetics, Bar Harbor, ME. July, 2006 National Genetic Policy Summit Washington, D.C. September 20, 2006 BMS Graduate Program Retreat Granlibakken, Lake Tahoe, CA, October 14, 2006 President's Council on Bioethics November 16, 2006 UCSF Medical Grand Rounds December 7, 2006 2007 Destination UCSF Department of Neurology Frontiers (Grand Rounds), February 7, 2007 University of New Mexico Cancer Center, March 2007

Molecular Genetic Approach to Parkinson Disease Molecular Genetic Approach to Parkinson Disease Parkinson Disease Molecular Genetic Approach to Parkinson Disease Molecular Genetic Approach to Parkinson Disease Keynote Address: Personalized Medicine Genetic Diseases, Mendelian and Complex Role of alpha-synuclein in lipid metabolism

Molecular Genetics of Parkinson's Disease

Finding genes implicated in Parkinson Disease Biology of Alpha-Synuclein Molecular Genetics of Parkinson's Disease Direct to Consumer Genetic testing Studies on Vitamin C Transporter knockout mice Genetic Testing Personalized Medicine

Title Molecular Genetics of Parkinson's Disease Molecular Genetic Approach to Parkinson's Disease

6

Gladstone Institutes, May 2007 San Francisco Veterans Administration, Medical Grand Rounds May 2007 Alzheimer's Association Medical Scientific Advisory Council Research Symposium. Stanford University, June 5, 2007 Short Course in Medical and Mammalian Genetics, Bar Harbor, ME. July, 2007 GME Grand Rounds, UCSF, Sept. 1, 2007 Italian Lowe Syndrome Association Formiggiana, Italy, Sept. 6-9, 2007 American Bar Association Continuing Education, South San Francisco, CA, October 2, 2007 Van Andel Institute, Grand Rapids, MI, October 31, 2007. Inositide Signalling, Janelia Farms (HHMI) November 4-7, 2007 International Lowe Syndrome Meeting, London, UK, December 7, 2007 NHGRI Workshop on Personalized Medicine, Bethesda, MD, December 19, 2007 UCSF Research Retreat on Parkinson Disease 2008 Gallo Institute, Emeryville, CA, April 16, 2008 Lowe Syndrome Association, Orlando, FL, June 26-28, 2008 Short Course in Medical and Mammalian Genetics, Bar Harbor, ME. July, 2008 National Human Genome Research Institute, Bethesda, MD, September 2008 Michael J. Fox Foundation Therapeutics Conference, Chicago, IL, Sept., 2008 Kaiser Office of Research, Oakland, CA, Sept., 2008 University of California, San Diego, October 2008 University of Texas Southwestern Dallas, TX, October 2008

A Geneticist looks at Parkinson disease Personalized Medicine What Human Genetics has taught us about Alzheimer Disease 1. Molecular Genetics of Parkinson's Disease 2. Individualized Medicine Personalized Genetic Medicine Lowe Syndrome Molecular Genetic Testing Molecular Genetic Approach to Parkinson Disease Towards a mouse model for Lowe Syndrome Towards a mouse model for Lowe Syndrome Genetic Personalized Medicine Phosphorylation of -synuclein

Molecular Genetic Approach to Parkinson Disease 1. Status of Lowe Syndrome Research 2. Molecular Genetics of Lowe Syndrome Individualized Medicine Genomics in Social and Behavioral Research A progressive mouse model for Parkinson disease Pharmacogenomics and Personalized Medicine A geneticist's view of Parkinson disease and -synuclein A geneticist's view of Parkinson disease and -synuclein

7

2009 San Francisco Veterans Hospital Medical Grand Rounds, February 2009 American College of Medical Genetics, Invited Platform Presentation, March 2009 UCSF Pediatric Grand Rounds, April 2009 Invited Keynote Speaker, Bowes Genetics Award, Harvard Partners, Boston, June 2009 Short Course in Medical and Mammalian Genetics, Bar Harbor, ME. July, 2009 Michael J. Fox Foundation Conference, New York, NY, September 2009 American Society for Cell Biology Satellite Meeting on Cell Biology of Lowe Syndrome, San Diego, December 2009

Personalized Medicine Creating a mouse model for Lowe syndrome Personalized Medicine Personalized Medicine: Where do we stand? Individualized Medicine A progressive mouse model for Parkinson disease Creating a mouse model for Lowe syndrome

ADMINISTRATIVE RESPONSIBILITIES AND SERVICE
Department or Institute Chair, Committee on Appointments and Promotions, NHGRI/DIR 1990-2006 Executive Committee and Faculty, NHGRI/Johns Hopkins Genetic Counseling Training Program 1990-2006 Project Officer, Center for Inherited Disease Research 1998-2006 Medical Director NHGRI/Johns Hopkins Genetic Counseling Training Program University or NIH Wide 1988-1994 Admissions Committee, Molecular Biology Graduate Group, University of Pennsylvania 1995-1999 Chair, Small Animal Users' Committee, Building 49 1995-2004 Head, Clinical Molecular Genetics Training Program, NHGRI 1996-2003 Executive Committee, Metropolitan Washington Medical Genetics Residency Training Program. 1999-2002 Committee on Appointments and Promotions, NIMH/DIR 2006Search Committee for Joint Pharmaceutical Sciences/IHG recruitment 2006Search Committee for Division Chief, Pediatric Genetics, Dept. of Pediatrics 2006Co-Chair, Search Committee for Psychiatric/Behavioral Genetics recruitment 2007Search Committee for Division Chief, Maternal-Fetal Medicine, Dept. of Ob/Gyn 2007Search Committee for Genetics in Clinical Pharmacy, School of Pharmacy 2007Executive Committee, Biomedical Sciences Graduate Group, UCSF

8

2007 20072007200720082008-09 20082008200820092009-

Search Committee for Nephrology Division Chief, Department of Medicine. Search Committee for Pediatric Neurologist, Department of Neurology MSTP Council, UCSF Interviewer for internal medicine residency applicants, Department of Medicine, UCSF Director, Molecular Medicine Pathway to Discovery, UCSF School of Medicine Co-Director, Demystifying Medicine Lecture Series, UCSF Chair, Search Committee for Pediatric Genetics Faculty, Department of Pediatrics UCSF Chancellor's Council Search Committee for Statistical Geneticist, the Gallo Institute and Dept. of Neurology, UCSF. Search Committee for new Chairman of Pediatrics Search Committee for geneticists for the Cardiovascular Research Institute (Co-Chair)

Government Service
NIH Regular Initial Review Group Membership 1987-91 Genetic Basis of Disease, NIGMS. 1992-96 Human Genome Research Study Section (DRG) 1998-00 Mammalian Genetics (CSR). Ad Hoc Review Committees NIGMS 1986 Camden Cell Repository Advisory Committee 1988 RFA: Mapping and Sequencing Human and Representative Genomes 1987 RFA: Data Management of Mapping and Sequencing Information National Institute of Child Health and Development 1987 RFA: Program Projects on Rett's Syndrome. National Institute of Aging 1985 Special Study Section on Linkage Analysis in Alzheimer's Disease 2003 Site Visit, NIA DIR. National Center for Human Genome Research 1989 RFA: SBA applications for Genome Analysis 1990 RFA: SBA applications for Genome Analysis 1990 Special Study Section, Division of Research Grants 1991 Site Visitor, Genome Center Application, Duke University 1994 Chair, Site visit, Genome Center Application, Washington University 2002 Haplotype Mapping RFA Review Committee 2004 Haplotype Mapping RFA Review Committee

9

1998 2001 2000 2001 20052006-

Model Organisms Database Workshop Chair, Subgroup on Genotyping Methods, SNP Mapping Advisory Committee Member, Advisory Panel on Genomics for Office of AIDS Research GRASPP panel on sequencing other whole genomes Working Group, National Chemical Genomics Center NCBI/NLM Working Group, dbGAP Implementation,

National Institute of Mental Health 1997 NIMH Genetics and Mental Disorders Planning Committee 1998 NIMH Intramural Research Planning Group on Genetics. National Institute of Neurological Disorders and Stroke 1998 Neurogenetics Planning Group 2003 Udall Center Review 2006- Technical Contract Review for Pharmacological agents in Parkinson disease (CINAPS)

Community/Public Service
Grant Reviews for Private Foundations 2006 Michael J. Fox Foundation Fast-Track Grant Reviews 2006 Parkinson's Study Group Clinical Grant Applications Reviews 2007 Simons Foundation Reviews for grants in Autism Research Education and Outreach '96, '99, '03 Organized and taught courses for the public on genetics and genomics in the Smithsonian Associates Program, Washington DC. 2005 Advances in Parkinson Disease Genetics, NINDS-sponsored press conference 2003-2006 DNA Day Outreach Participant 2007 Judge, Biotech Educator Awards 2008 Wellness Lecture for the UCSF Development Office on Personalized Medicine and Genetics 2008 Numerous interviews with the lay press on Direct-to-Consumer Genetics testing 2008 Science Café Interview for UCSF Public Affairs

TEACHING and MENTORING Courses taught
At the University of Pennsylvania 1986-1988 Genetics 100: Introduction to Human Genetics for Medical Students, University of Pennsylvania; I gave 6-8 hours of lecture 1989-1994 Genetics 100: Introduction to Human Genetics for Medical Students, University of Pennsylvania; I was Course Director and gave 8 hours of

10

1995-1999 At NHGRI 1999-2006 1998-2003

lectures to ~140 students and led 16 hours of small group discussions for ~20 students Genetics 100: Introduction to Human Genetics for Medical Students, University of Pennsylvania, I gave 4 hours of lecture per year Introduction to Human Genetics for Genetic Counseling Students NIH/Johns Hopkins Joint Training Program in Genetic Counseling; I lead 32 hours of small group discussion for 4 or 5 students. Introduction to Clinical Molecular Genetics; Course Director and I gave three or four hours of lecture for ~15 students.

At UCSF 2005-2006 2006-2007 2006-2007 2007 2007 2007-2008 2007-2008 2007-2008 2007-2008 2007-2008 2007-2008

Small group discussion leader for Genetics in Prologue, Brain and Behavior and Life Cycle blocks, UCSF (6 hours + 15 hours prep time) Two lectures in Organ block, UCSF School of Medicine Medical School Curriculum (2 hours) Small group discussion leader for Genetics in Prologue, Organ Block, Brain and Behavior and Life Cycle blocks, UCSF (8 hours + 20 hours prep time) Internal Medicine Resident Education Sessions on Genetics at MoffettLong, SFGH and SFVA Hospitals (3 hours) Education Sessions on Genetics and Individualized Medicine for Fellows in the Division of General Internal Medicine (2 hours) Two lectures in Organ block, UCSF School of Medicine Medical School Curriculum (2 hours) Small group discussion leader for Genetics in Prologue, Brain and Behavior, Organs Block, Cancer, Life Cycle blocks, UCSF (10 hours + 15 hours prep time) Genetics 224 in BMS, co-taught with Dr. Jane Gitschier, 22 hours Supervise Journal Club presentations in BMS 255 Genetics course (4 hours) Resident teaching through regular attendance at the weekly M&M Conference in the Department of Medicine (30 hours) NS219, seminar for Neuroscience graduate students, 8 graduate students (2 hours + 2 hours prep time) Supervise Teaching course for graduate students, 4 hours, 4 students Lecture in CME Course in Electrophysiology (1 hour plus 3 hours prep time) Three lectures in Organ block, UCSF School of Medicine Medical School Curriculum (2.5 hours)

2008-2009 2008-2009 2007-2008

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2008-2009 2008-2009 2009-2010

Small group discussion leader for Genetics in Prologue, Brain and Behavior, Organs Block, Cancer, Life Cycle blocks, (10 hours + 15 hours prep time) NS219, seminar for Neuroscience graduate students, 8 graduate students (2 hours + 2 hours prep time) Resident teaching through regular attendance at the weekly M&M Conference in the Department of Medicine (30 hours) Three lectures in Organ block, UCSF School of Medicine Medical School Curriculum (2.5 hours) Small group discussion leader for Genetics in Prologue, Organs Block, M3 (6 hours + 9 hours prep time) (Anticipated) One lecture in Metabolism on Inborn Errors of Metabolism (2.5 hours) Small group discussion leader for Genetics in Brain and Behavior, Life Cycle blocks, (4 hours + 6 hours prep time) Genetics 224 in BMS, co-taught with Dr. Jane Gitschier, 22 hours Introduction to the Laboratory for the Molecular Medicine Pathway (120 hours)

Predoctoral Students Supervised
1995(summer) Laura Pomerance 1997(summer) Rachel Perline 99-01 Sotiria Sotiriou 05-07 Susan Bothwell 06 Adam Hoagland Sidwell Friends School High School in St.Louis, Missouri College, University of Edinburgh College, Lafayette College, Colorado College

Graduate Students Supervised
Years 84-89 85-91 91-96 92-95 89-92 93-96 Name Dorothy Reilly Diane Merry Isabelle Olivos Pasi Janne Jeannie Lee Sudha Srinivasan Graduate School University of Pennsylvania University of Pennsylvania University of Pennsylvania MD/PhD University of Pennsylvania MD/PhD University of Pennsylvania University of Pennsylvania 12

01-05 0307 09

Leslie (Whitty) Farber Sotiria Sotiriou Karen Ring Mike Andos

George Washington University Johns Hopkins University Rotation in BMS, UCSF Rotation in BMS, UCSF

Postdoctoral Fellows Supervised
Yrs 85-88 87-90 86-90 89-91 91-93 Name Anne Maddalena Max Muenke Rhonda Schnur Alessandra Murgia Anne-Marie Leahey Current Position Scientist, GeneDx Chief, Medical Genetics Branch, NHGRI/NIH Attending Genetics, Cooper Hospital, Camden, New Jersey Professor Pediatrics, University of Padova, Italy Asst. Professor of Oncology Children's Hospital of Philadelphia (Currently homemaker caring for children) Lecturer in Genetics, Department of Medical & Molecular Genetics, Guy's King's & St Thomas' School of Medicine, London, UK Head of Discovery, Vanda Pharmaceuticals Staff Scientist, NHGRI Dept of Pediatrics Haga Red Cross Hospital, Japan Staff Scientist, NIA Scientist, Vanda Pharmaceuticals Research Fellow, University of Alberta Research Scientist, FDA Corning Sciences Staff Scientist, Goethe University, Frankfurt Public School Science Teacher Assistant Professor, McLaughlin Research Institute, Great Fall, MT Assistant Professor, Duke University Medical School Research Associate, NHLBI Division of Intramural Research

92-94

Rebecca Oakey

93-96 93-97 94-95 95-00 96-98 96-98 96-99 96-01 99-01 02-05 99-06 99-06 99-06

Christian Lavedan Sharon Suchy Ichiro Okabe Ti Lin Marlene Dressman Roger Bascom Lei Bi Elina Hellsten Suzana Gispert Felicia Eason Forbes Deborah Cabin Ornit Chiba-Falek Nelson Cole

13

000405-

Christopher Ellis Melinda McFarland Valerie Drews

Current Current Current

Medical Students supervised 2009 Samuel Brondfield summer

BMS Prelim and Thesis Committees at UCSF
8/06 5/07 9/07 12/09 Sue-Ann Lee (Muchowski Lab) Prelim Committee and Thesis Committee Beth Theusch (Gitschier Lab) (Chair of thesis Committee) Angela Sia (Muchowski Lab) Prelim Committee Ryan Devon (Ptacek lab) Thesis Committee

Teaching Awards
1989 1989 1990 1990 1991 2007 2009 Dean's Award for Excellence in Basic Science Teaching, University of Pennsylvania School of Medicine Commendation for Outstanding Teaching, University of Pennsylvania School of Medicine, Class of 1992 Leonard Berwick Award for Excellence in Combining Basic Science and Clinical Teaching, University of Pennsylvania School of Medicine Commendation for Outstanding Teaching, University of Pennsylvania School of Medicine, Class of 1993 Commendation for Outstanding Teaching, University of Pennsylvania School of Medicine, Class of 1994 Certificate of Appreciation from the NHGRI for Teaching and Mentoring in the NIH/Johns Hopkins Genetic Counseling Training Program Excellence In Teaching Award, UCSF Academy of Medical Educators

CLINICAL RESPONSIBILITIES
In addition to my own research protocols, I served from 1994-2004 as a consultant in genetics in the NIH Clinical Center, serving either for two months or one month. I would see an average of one consult per week, usually an outpatient. Evaluation Scores are not generated at the NIH. Currently on staff at Moffett-Long Hospitals. I provide Medical Genetics consultation for the Program in Cardiovascular Genetics Clinics for Marfan syndrome and primary cardiomyopathies (3 ½-day per month), the Mt. Zion Cancer Risk Clinic (2 ½-day /month), and the General Genetics Clinic in Pediatrics (1 ½-day per month). Total in-clinic time: 6 ½-days per month.

RESEARCH PROGRAM

14

Dr. Nussbaum's laboratory studies genetic contributions developmental and neurodegenerative disorders. His two major areas of concentration are Lowe syndrome and Parkinson disease. Lowe syndrome, formally known as Lowe oculocerebrorenal syndrome (OCRL), is a rare X-chromosomelinked disorder that can cause mental retardation, seizures, cataracts, and kidney disease in young children. Most Lowe syndrome patients die in their teens or twenties. Parkinson disease is a slowly progressive disease of the nervous system, which strikes an estimated 50,000 mostly older Americans each year. It is second only to Alzheimer's disease among the most common neurodegenerative diseases in the developed world. In 1992, Dr. Nussbaum identified a defective gene that causes Lowe syndrome. The gene, OCRL1, codes for phosphatidylinositol-4, 5-bisphosphate 5-phosphatase-an enzyme that acts primarily in the Golgi apparatus of the cell and may be involved in protein processing and transport. Dr. Nussbaum's lab developed a clinically useful enzyme test for Lowe Syndrome, carried out the first prenatal diagnosis of the condition by enzyme assay, and pioneered the delivery of genetic services and counseling, including carrier testing, to families of Lowe syndrome patients. Determining the enzyme's normal function and why disabling it affects so many apparently unrelated organ systems could point to possible treatments. Interestingly, OCRL1 knockout mice do not develop Lowe syndrome manifestations. Dr. Nussbaum is investigating the role of an autosomal paralog for OCRL1, INPP5B, as a gene encoding a possible compensating gene product in mice. In his Parkinson disease work, Dr. Nussbaum's laboratory seeks to understand the range of genes that can contribute to this disorder. Scientists long believed that Parkinson was not an inheritable disease. In 1997, Dr. Nussbaum and collaborators within and outside NHGRI identified a missense mutation in the alpha-synuclein gene (SNCA) as the cause of hereditary, early onset Parkinson disease in an Italian-American family. In 2003, collaborating with researchers John Hardy and Andy Singleton at the National Institute on Aging, Dr. Nussbaum and his colleague Dr. Amalia Dutra helped the NIA researchers identify a triplication of the SNCA in one large family affected by early-onset Parkinson disease. When Lewy bodies- protein aggregates that are a defining characteristic of Parkinson disease- were found to be composed primarily of alpha-synuclein, the link between mutations in SNCA and Parkinson disease was clearly established and provide strong evidence that mutations that change alpha-synuclein's properties or cause it to be overexpressed may be involved in Parkinson disease pathogenesis. Finally, Dr. Nussbaum's laboratory has demonstrated a defect in phospholipid metabolism in mouse brains lacking alpha-synuclein. In particular, a deficiency of cardiolipin was seen, associated with a mild defect in mitochondrial electron transport chain function. The normal function of alpha-synuclein has been obscure and these results point to a definitive link between this protein and mitochondrial function, which has long been implicated in Parkinson disease. Dr. Nussbaum's group has engineered several transgenic mice that express mutant human alphasynuclein. Interestingly, mice that express only mutant human alpha-synuclein develop severe, rapid neurological deterioration, particularly in the spinal cord; mice that express both the mouse and the human protein develop mild deterioration. The investigators still do not know why and how the mouse protein protects against neurodegeneration.

15

CLINICAL RESEARCH PROGRAM N/A RESEARCH SUPPORT
2006-2008 Sandler Family Foundation (PI) Total Direct Costs 2006-2008 Lowe Syndrome Trust(PI) Total Direct Costs 2006-2008 Michael J. Fox Foundation(PI) Total Direct Costs $200,000 $176, 508 $294,784

2009-2012 NIH/NIA 1R21AG033941-01(PI) Total Direct Costs $450,000 "Glucocerebrosidase mutations in a mouse synucleinopathy model"

PATENTS
Cloning of a gene mutation for Parkinson's disease. United States Patent 7001720.

CONSULTING ACTIVITIES
Government 1997 1998 1998 1998 2000 2001 2001 2002 200520072008 Academia 2001 2002 2003-08 NIMH Genetics and Mental Disorders Planning Committee NIMH Intramural Research Planning Group on Genetics NINDS Neurogenetics Planning Group Model Organisms Database Workshop Member, Advisory Panel on Genomics for Office of AIDS Research Chair, Subgroup on Genotyping Methods, SNP Mapping Advisory Committee GRASPP panel on sequencing other whole genomes, NHGRI Canadian Institutes for Health Research, Genetics Strategy meeting Working Group, National Chemical Genomics Center, NHGRI dbGaP Working Group, NCBI, NLM Site visit to review Dr. Eric Green, Scientific Director of NHGRI Site Visit to Review Department of Human Genetics, University of Michigan Consultant for Department of Genetics, University of North Carolina External Advisory Board, COBRE Program in Neuroscience, University of North Dakota 16

2004-2006 2007 2007 2008

External Scientific Advisory Board, Carolina Center for Genome Sciences University of North Carolina Site Visit to Review Department of Genetics, University of Alabama, Birmingham Bioethics of Biobank Studies, Ontario Genome Center, Toronto, Canada California Technology Assessment Forum of Blue Cross-Blue Shield Foundation on utility of genotype-directed warfarin dosing

Private Industry None

BIBLIOGRAPHY
Original Papers (peer reviewed only, meeting abstracts not included). 1. Nussbaum RL, and Puck JM: Recurrence risks for retinoblastoma: Model for autosomal dominant disorders with complex inheritance. J. Pediatr. Ophthalmology 13:89-98, 1976. 2. Caskey CT, Nussbaum RL, Cohan LC, and Pollack L: Sporadic occurrence of Duchenne Muscular Dystrophy: Evidence for new mutation. Clin. Genet. 18:329-341, 1980. 3. Nussbaum RL, and Caskey CT: Purification and characterization of hypoxanthineguanine phosphoribosyltransferase from Saccharomyces cerevisiae. Biochemistry 20:4584-4590, 1981. 4. Nussbaum RL, Caskey CT, Gilbert F, and Nyhan W: Southern analysis of the hypoxanthine-guanine phosphoribosyltransferase locus in man. J. Clin. Chem. Clin. Biochem. 20:401, 1982. 5. Nussbaum RL, Crowder WE, Nyhan WL, and Caskey CT: A three allele restriction fragment length polymorphism at the hypoxanthine-guanine phosphoribosyltransferase locus in man. Proc. Natl. Acad. Sci. USA 80:4035-4039, 1983. 6. Nussbaum R, Brennand J, Chinault C, Fuscoe J, Konecki D, Melton D, and Caskey CT: Molecular analysis of the hypoxanthine phosphoribosyltransferase locus. In: Banbury Report 14: Recombinant DNA application to human disease. C.T. Caskey and R.L. White, Eds., Cold Spring Harbor Laboratory, New York, pp. 81-89, 1983. 7. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, and Ledbetter DH: Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J. Ped. 102:552-558, 1983. 8. Nussbaum RL, Airhart SD and Ledbetter DH.: Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid. Human Genetics 64:148-150, 1983. 17

9. Wilson JM, Frossard P, Nussbaum RL, Caskey CT, and Kelley WN.: Human hypoxanthine-guanine phosphoribosyltransferase. J. Clin. Invest. 72:767-772, 1983. 10. Chinault AC, Brennand J, Konecki DS, Nussbaum RL, and Caskey CT: Characterization and use of cloned sequences of the hypoxanthine-guanine phosphoribosyltransferase gene. In: Purine Metabolism in Man - IV, Part A. C.H.H.M. de Bruyn, H.A. Simmonds, and M. Muller, Editors. Plenum Publishing Corp., New York, pp. 411-416, 1983. 11. Nussbaum RL, Powell C, Graham HL, Caskey CT, and Fernbach DJ.: Newborn screening for sickling hemoglobinopathies. Am. J. Dis. Child. 138:84-87, 1984 12. Purrello M, Nussbaum R, Rinaldi A, Filippi G, Traccis S, and Siniscalco M: Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm. Human Genetics 65:295-299, 1984. 13. Nussbaum RL, Caskey CT, Gilbert F, and Nyhan W: Southern analysis of the Lesch-Nyhan locus in Man. In: Purine Metabolism In Man - IV. Plenum Publishing Corp., NY, pp 417-420. 14. Nussbaum RL, and Rice L: Morbidity of sickle cell trait at high altitude: A case report. Southern Medical Journal. 77:1049-1050, 1984. 15. Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, and Beaudet AL: Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: Cloned DNAs as reagents for cytogenetic analysis. Am. J. Human Gen., 36:954-964, 1984. 16. Lewis RA, Crowder WE, Eiermann LA, Nussbaum RL and Ferrell RE: The Gardner syndrome: Significance of ocular features. Ophthalmology, 91:916-924, 1984 17. Patel PI, Nussbaum RL, Framson PE, Ledbetter DH, Caskey CT, and Chinault AC: Organization of the HPRT gene and related sequences in the human genome. Somat. Cell Molec. Genet., 10:483-493, 1984. 18. Boggs BA, and Nussbaum RL: Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in the region of Xq26-qter. Somat. Cell Molec. Genet., 10:607-613, 1984. 19. S. Fernando Soto-Figueroa SF, Nussbaum RL, and Garcia E. A Case of Myocardial Infarction in a Patient with Werner's Syndrome Tex Heart Inst J. 11(1): 80-83, 1984. 20. Lewis RA, Nussbaum RL and Ferrell, RE.: Mapping X-linked Ophthalmic Diseases: Provisional Assignment of the Locus for Choroideremia to Xq13-q24. Ophthal., 92:800-805, 1985.

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21. Nussbaum RL, Lewis RA, Lesko JG and Ferrell, RE: Choroideremia is linked to the Restriction Fragment Length Polymorphism DXYS1 at Xq13-q21. Amer. J. Hum. Genet., 37:473-478, 1985. 22 Nussbaum RL, Lewis RA, Lesko JG and Ferrell, RE: Linkage Relationship of Xlinked retinitis pigmentosa to X chromosomal short arm markers. Hum. Genet., 70:4550, 1985. 23. Cantu ES, Nussbaum RL, Airhart SD and Ledbetter, DH: Fragile(X) Expression Induced by FUdR is Transient and Inversely Related to Levels of Thymidylate Synthase Activity. Amer. J. Hum. Genet. 37:947-955, 1985. 24. Nussbaum RL, Walmsley R McC, Lesko JG, Airhart SD and Ledbetter, DH: Thymidylate Synthase Deficient Chinese Hamster Cells: A Selection System for Human Chromosome 18 and Experimental System for the Study of Thymidylate Synthase Regulation and Fragile X Expression. Amer. J. Hum. Genet., 37:1192-1205, 1985. 25. Pang S, Pollock MS, Loo M, Green O, Nussbaum RL, Clayton G, DuPont B, New MI: Pitfalls in Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia. Annals NY Acad Sci 458:111-129, 1985. 26. Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL and O'Brien, WE: New Mutation and Prenatal Diagnosis in Ornithine Transcarbamylase Deficiency. Amer. J. Hum. Genet., 38:149-158, 1986. 27. Ledbetter DH, Airhart SD, Nussbaum RL: Somatic Cell Hybrid Studies of Fragile (X) Expression in a Carrier Female and Transmitting Male. Am J Med Genet, 23:429-44, 1986. 28. Ledbetter DH, Airhart SD, Nussbaum RL: Caffeine Enhances Fragile (X) Expression in Somatic Cell Hybrids. Am J Med Genet, 23:445-456, 1986. 29. Nussbaum RL, Airhart SD, Ledbetter DH: A Rodent-Human Hybrid Containing Xq24-qter Translocated to a Hamster Chromosome Expresses the Xq27 Folate-Sensitive Fragile Site. Am J Med Genet, 23:457-466, 1986. 30. Nussbaum RL, Airhart SD, Ledbetter DH.: Recombination and Amplification of Pyrimidine-rich Sequences May be Responsible for Initiation and Progression of the Xq27 Fragile Site: An Hypothesis. Amer J Med Genet, 23:715-722, 1986. 31. Ledbetter DH, Ledbetter SA, and Nussbaum RL: Fragile X Expression in Normal Males: Implications for the Nature of the Mutation. Nature, 324: 161-163, 1986. 32. locus for hypoxanthine phosphoribosyltransferase. Am J Hum Genet, 1986, 39:669, 1986.

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33. Lesko JG, Lewis RA, and Nussbaum RL: Multipoint Linkage Analysis of Loci in the Proximal Long Arm of the Human X Chromosome: Application to Mapping the Choroideremia Locus. Amer J Hum Genet, 40:303-311, 1987. 34. Silver DN, Lewis RA, and Nussbaum RL: Mapping the Lowe Oculocerebrorenal Syndrome to Xq24-q26 by Use of Restriction Fragment Length Polymorphisms. J Clin Invest 79: 282-285, 1987. 35. Puck JM, Nussbaum RL, and Conley ME.: Carrier Detection in X-linked Severe Combined Immunodeficiency Based On Patterns of X Chromosome Inactivation. J Clin Invest, 79:1395-1400, 1987. 36. Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA and Ledbetter, DH: Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness and mental retardation. Proc Nat Acad, Sci. USA, 84:6521-6525, 1987.. 37. vanTuinen P, Johnson KR, Ledbetter SA, Nussbaum RL, Rovera G and Ledbetter, DH: Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15;17 translocation of acute promyelocytic leukemia. Oncogene 1:319322, 1987. 38. Sosnoski DM, Emanuel BS, Hawkins AL, van Tuinen P, Ledbetter DH, Nussbaum RL, Kao FT, Schwartz E, Phillips D, Bennett JS, Fitzgerald LA, Poncz M: The Chromosomal Localization of the Genes for the Vitronectin and Fibronectin Receptors a Subunits and of Platelet Glycoproteins (GP) IIb and IIIa. J Clin Invest 81:1993-1998. 1988. 39. Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL: Tightly Linked Flanking Markers for the Lowe Oculocerebrorenal Syndrome with Application to Carrier Assessment. Amer J Hum Genet 42:748-755, 1988. 40. Maddalena A, Spence JE, O'Brien WE, Nussbaum RL: Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. J Clin Invest 82:1353-1358, 1988. 41. Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL: Mosaicism for an intragenic deletion in a male child with mild ornithine transcarbamylase deficiency. N Engl J Med 319:999-1004, 1988. 42. Cremers F, van de Pol D, Diergaarde P, Wieringa B, Nussbaum R, Schwartz M, Wright A, Ropers H-H: Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics 4:41-46,1989. 43. Musarella MA, Anson-Cartwright L, Burghes A, Worton, RG, Lesko, JG,

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Nussbaum, RL Linkage Analysis of Large Latin-American Family with X-linked Retinitis Pigmentosa and Metallic Sheen in the Heterozygote Carrier. Genomics 4, 601605, 1989. 44. Schnur RE, Ledbetter SA, Ledbetter DH, Merry DE, Nussbaum RL: New Polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization. Amer J Hum Genet, 44:248-254, 1989. 45. Puck JM, Nussbaum RL, Smead DL, Conley ME: X-linked severe combined immunodeficiency: Localization within the Region Xq13.1-21.1 by Linkage and Deletion Analysis. Amer J Hum Genet, 44:724-730, 1989. 46. Skare JC, Grierson HL Sullivan JL, Nussbaum RL, Purtilo DT, Sylla B, Lenoir G, Reilly DS, White BN, Milunsky A: Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome confirms that the XLP locus is near DXS42 and DXS37. Human Genetics, 82:354-358, 1989. 47. Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinski M, Nussbaum RL: Choroideremia and Deafness with Stapes Fixation: A contiguous gene deletion syndrome in Xq21. Amer Journal Human Genetics, 45:530-540, 1989. 48. Reilly DS, Sosnoski DM, Nussbaum RL: Detection of translocation breakpoints by pulsed field gel analysis: practical considerations. Nucleic Acids Research, 17(13):5414, 1989. 49. Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum RL.: An Xp22 Microdeletion Associated with Ocular Albinism and Ichthyosis: Approximation of Breakpoints and Estimation of Deletion Size Using Cloned DNA Probes and Flow Cytometry, Amer J Hum Genet 45:706-720, 1989. 50. Schneider-Gadicke A, Beer-Romero P, Brown LG, Nussbaum RL, Page DC: The ZFX Gene on the Human X Chromosome Escapes X Inactivation and is Closely Related to ZFY, the Putative Sex Determinant on the Y Chromosome. Cell, 57:1247-1258, 1989. 51. Smead DL, Nussbaum RL, Puck JM: RFLP's in human PGK1: A new probe for the Pst I RFLP demonstrates strong linkage disequilibrium with the Bgl I RFLP. Nuc Acids Res 17:7551, 1989. 52. Lee, JT, Nussbaum, RL: An arginine to glutamine mutation in Residue 109 of Human Ornithine Transcarbamylase Completely Abolishes Enzymatic Activity in Cos1 Cells. J Clin Invest 84:1762-1766, 1989. 53. Lewis, RA, Nussbaum, RL, Stambolian, D: Mapping X-linked Ophthalmic Diseases: IV Provisional Assignment of the Locus for X-linked Congenital Cataracts and Microcornea (The Nance Horan Syndrome) to Xp22.2-p22.3. Ophthalmology, 97:110121, 1990.

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54. Ott J, Bhattacharya S, Denton, M, Donald J, Dubay C, Felix J, Fishman G, Frey D, Gal A, Humphries P, Litt M, Musarella M, Neugebauer M, Norton R, Nussbaum RL, Terwilliger JD, Weleber RG, Wirth B, Wong F, Wright AF: Localizing multiple X-linked Retinitis Pigmentosa loci using extended multilocus homogeneity tests. Proc Natl Acad Sci USA, 87:701-704, 1990. 55. Merry DE, Lesko JG, Siu V, Flintoff WF, Collins F, Lewis RA, Nussbaum, RL: DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X;13 translocation. Genomics 6:609-615, 1990. 56. Trask B, van den Engh G, Nussbaum RL, Schwartz C, Gray J: Quantification of the DNA content of structurally abnormal X chromosomes and of chromosome copy number in aneuploid cells using high resolution bivariate flow karyotyping. Cytometry, 11:184195, 1990. 57. Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck J: Aicardi syndrome: Heterogeneity in clinical severity and X-chromosome inactivation pattern. J Pediatr, 116:911-918, 1990. 58. Stambolian D, Lewis RA, Buetow K, Bond A, Nussbaum RL: Nance-Horan Syndrome: Localization within the Region Xp211-Xp223 by linkage analysis. Amer J Hum Genet, 47:13-19, 1990. 59. Reilly, DS Lewis RL, Nussbaum, RL: Genetic and Physical Mapping of the Xq24q26 Markers flanking the Lowe Oculocerebrorenal Syndrome. Genomics 8:62-70, 1990. 60. Reilly, DS and Nussbaum, RL: Parental Origin of De Novo Translocation in a Patient with Both an Inherited and a De Novo chromosome Translocation. Amer J Med Genet, 37:429-430, 1990. 61. Schnur, RE, Knowlton, RG, Musarella, MA, Muenke, M, Nussbaum, RL: Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed field gel electrophoresis. Genomics 8:255-262, 1990. 62. Wright AF, Nussbaum RL, Bhattacharya SS, Jay M, Lesko JG, Evans HJ, Jay B: Linkage studies and deletion screening in choroideremia. J Med Genet 27:496-498, 1990. 63. Schnur, RE, Nussbaum, RL, Anson-Cartwright, L, McDowell, C, Worton, RG, and Musarella, MA: Linkage Analysis in X-linked Ocular Albinism. Genomics 9:605-613, 1991. 64. Montanaro V, Casamassimi A, D'Urso M, Yoon J-Y, Freije W, Schlessinger D, Muenke M, Nussbaum RL, Saccone S, Maugeri S, Santoro AM, Motta S, Della Valle G: In Situ Hybridization to Cytogenetic Bands of Yeast Artificial Chromosomes Covering 50% of Human Xq24-Xq28 DNA. Am J Hum Genet 48:183-194, 1991.

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65. Merry, DE, Jänne PA, Landers, JE, Lewis RA, Nussbaum, RL: Isolation of a Candidate Gene for Choroideremia Proc Natl Acad Sci USA 89:2135-2139, 1992. 66. Lee JT, Murgia A, Sosnoski DM, Olivos I, and Nussbaum RL: Construction and Characterization of a Yeast Artificial Chromosome (YAC) Library for Xpter Xq273: A Systematic Determination of Cocloning Rate and X Chromosome Representation. Genomics 12:526-533, 1992. 67. Puck JM, Stewart CC, and Nussbaum RL: Maximum likelihood analysis of human T-cell X Chromosome inactivation patterns: normal women vs carriers of X-linked severe combined immunodeficiency Amer J Hum Genet 50:742-748, 1992. 68. Attree OF, Olivos IM, Okabe I, Bailey LC, Nelson DL Lewis, RA McInnes, RR and Nussbaum RL: The Lowe Oculocerebrorenal syndrome gene encodes a novel protein highly homologous to inositol polyphosphate-5-phosphatase Nature 358:239-242, 1992. 69. Okabe I, Bailey LC, Attree OF, Srinivasan S, Perkel JM, Laurent BC, Carlson M, Nelson DL, and Nussbaum RL: Cloning of human and bovine homologs of SNF2/SWI2, a global activator of transcription in yeast S cerevisiae. Nucleic Acids Research, 20:46494655, 1992. 70. Okabe I, Attree O, Bailey LC, Nelson DL, Nussbaum RL: Isolation of cDNA Sequences around the Chromosomal Breakpoint in a Female with Lowe Syndrome by Direct Screening of cDNA libraries with Yeast Artificial Chromosomes. J of Inherited Metab Dis 15(4):526-531, 1992. 71. Leahey AM, Charnas LR, and Nussbaum RL: Nonsense mutations in the OCRL-1 gene in patients with the Oculocerebrorenal Syndrome of Lowe. Human Molecular Genetics 4:461-463, 1993. 72. Schnur RE, Wick PA, Sosnoski D, Bick D and Nussbaum RL: Deletion Mapping and Highly Reduced Radiation Hybrid in the Xp223-p222 Region. Genomics 15(3), 500506, 1993. 73. Siomi H, Siomi MC, Nussbaum RL, and Dreyfuss G: The protein product of the fragile X gene, FMR-1, has characteristics of an RNA binding protein. Cell, 74, 291-298, 1993. 74. Jänne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM, and Nussbaum RL: Localization of the 75 kDa Inositol Polyphosphate-5-phosphatase (INPP5B) to Human Chromosome 1p34. Cytogenetics and Cell Genetics, 66,164-166,1994. 75. Siomi H, Choi M, Siomi C, Nussbaum RL, Dreyfuss G: Essential Role for KH Domains in RNA Binding: Impaired RNA binding by a Mutation in the KH Domain of FMR1 that Causes Fragile X Syndrome. Cell,77:33-40, 1994.

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76. Hudson TJ, Colbert AME, Reeve MP, Bae JS, Lee MK, Nussbaum RL, Budarf ML, Emanuel BS, and Foote S: Isolation and regional mapping of 110 chromosome 22 STSs. Genomics, 24:588-592, 1994. 77. Siomi MC, Siomi H, Sauer W, Srinivasan S, Nussbaum RL, and Dreyfuss G: FXR1, An autosomal Homolog of the Fragile X Mental Retardation. EMBO J 14:2401-2408, 1995. 78. Jänne PA, Rochelle JM, Martin-DeLeon P, Stambolian D, Bucan M, Seldin MF, and Nussbaum RL: Mapping of the 75 kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens. Genomics, 28:280-285, 1995. 79. May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, and Schwartz C Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. Human Molecular Genetics 4:1465-1466, 1995. 80. Bell CJ, Budarf ML, Nieuwenhuijsen BW, Barnoski BL, Buetow KH, Campbell K, Colbert A, Collins J, Desjardins PR, DeZwann T, Eckman B, Foote S, Hart K, Hiester K, Van Het Hoog MJ, Hopper E, Kaufman A, McDermid HE, Overton GC, Reeve MP, Searls DB, Stein L, Watson E, Winston R, Valmiki VH, Nussbaum RL, Lander ES, Fischbeck KH, Emanuel BS, Hudson TJ: Integration of physical, breakpoint and genetic maps of chromosome 22 Localization of 575 yeast artificial chromosomes with 235 mapped markers. Human Molecular Genetics 4:59-69, 1995. 81. Oakey RJ, Matteson PG, Litwin S, Tilghman SM and Nussbaum RL: Nondisjunction in a mouse cross involving a 7,18 Robertsonian Translocation Chromosome. Genetics, 141:667-674, 1995. 82. Olivos-Glander IM, Jänne PA, and Nussbaum RL: The oculocerebrorenal syndrome gene product is a 105 kd protein localized to the golgi complex. Amer J Hum Genet, 57:817-823, 1995. 83. Suchy SF, Olivos-Glander IM, and Nussbaum RL: Lowe's Syndrome, a deficiency of a phosphatidylinositol 4,5 bisphosphate 5-phosphatase in the Golgi apparatus Human Molecular Genetics, 4:2245-2250, 1995. 84. Okabe I and Nussbaum RL: Identification and Chromosomal Mapping of the Mouse Inositol Polyphosphate 1-Phosphatase, Genomics, 30:358-360, 1995. 85. Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum RL, and Dreyfuss G: The Fragile X Mental Retardation Syndrome Protein Interacts with Novel Homologs FXR1 and FXR2, EMBO J, 14:5358-5366, 1995.

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86 Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, DiIorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum RL, and Duvoisin RC: Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23, Science, 274:1197-1199, 1996. 87. Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC: Physical mapping and genomic structure of the Lowe syndrome gene OCRL1 Hum Genet 99:145-150, 1997. 88. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA and Nussbaum RL: Spectrum of Mutations in the OCRL1 Gene in the Oculocerebrorenal Syndrome. Am J Hum Genet, 60:1384-1388,1997. 89. Lavedan CN, Garrett L, and Nussbaum RL: Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the Fragile X gene remain stable in transgenic mice Hum Genet, 100:407-414,1997. 90. Polymeropoulos MH, Lavedan C ,Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL: Mutation in the -Synuclein Gene Identified in Families with Parkinson's Disease. Science 276:2045-2047, 1997. 91. Srinivasan S, Seaman M, Nemoto Y, Daniell L, Emr S, DeCamilli P, Nussbaum RL: Disruption of Three Phosphatidylinositol Polyphosphate 5-Phosphatase Genes from S cerevisiae Results in Pleiotropic Abnormalities of Vacuole Morphology, Cell Shape, and Osmohomeostasis. European Journal of Cell Biology, 74:350-360, 1997. 92. Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL: Mutations Are Not Uniformly Distributed Throughout the OCRL1 Gene in Lowe Syndrome Patients. Molecular Genetics and Metabolism, 64:58-61, 1998. 93. Lavedan C, Dehejia A, Pike B, Dutra A, Leroy E, Ide S, Root H, Rubenstein J, Boyer RL, Chandrasekharappa S, Makalowska I, Nussbaum RL, Polymeropoulos MH: Contig map of the Parkinson's disease region on human chromosome 4q21-q23. DNA Research, 5:19-23, 1998. 94. Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, WynshawBoris A, Westphal H, and Nussbaum RL: Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. Journal of Clinical Investigation, 101:2042-2053, 1998. 95. Lavedan C, Grabczyk E, Usdin K, Nussbaum RL: Long uninterrupted CGG repeats within the first exon of the human FMR-1 gene are not instrinsically unstable in transgenic mice. Genomics 50(2): 229-240, 1998.

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96. Lavedan C, Leroy E, Torres R, Dehejia A, Dutra A, Buchholtz S, Nussbaum RL, Polymeropoulos, MH: Genomic Organization and Expression of the Human -Synuclein Gene (SNCB) Genomics 54(1):173-175, 1998. 97. Lavedan C, Leroy E, Torres R, Dehejia A, Buchholtz S, Dutra A, Nussbaum RL, Polymeropoulos MH: Characterization of the human -synuclein gene. Human Genetics, 103:106-112, 1998. 98. Mezey E, Dehejia AM, Harta G, Suchy SF, Nussbaum RL, Brownstein MJ, Polymeropoulos MH: Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease. Mol Psychiatry,3:493-499, 1998. 99. Suchy SF, Hurwitz J, O'Brien WE, Nussbaum RL: Prenatal Biochemical Diagnosis of Lowe Syndrome. Prenatal Diagnosis, 18:1117-1121, 1998. 100. Lavedan C, Buchholtz S, Auburger G, Albin RL, Athanassiadou A, Blancato J, Burguera JA, Ferrell RE, Kostic V, Leroy E, Leube B, Mota-Vieira L, Papapetropoulos T, Pericak-Vance MA, Pinkus J, Scott WK, Ulm G, Vasconcelos J, Vilchez JJ, Nussbaum, RL, Polymeropoulos MH: Absence of mutation in the beta- and gammasynuclein genes in familial autosomal dominant Parkinson's disease. DNA Res 5(6):4012 1998. 101. Lin T, Lewis RA, Nussbaum RL: Molecular Confirmation of Carriers for Lowe Syndrome. Ophthalmology, 106:119-122, 1999. 102. Bascom R, Srinivasan S, Nussbaum RL: Identification and characterization of golgin-84, a novel golgi integral membrane protein with a cytoplasmic coiled coil domain. Journal of Biological Chemistry, 274:2953-2962, 1999. 103. Bi L, Bernard DJ, Wynshaw-Boris A, Nussbaum RL: Proliferative Defect and Embryonic Lethality in Mice Homozygous for a Deletion in the p110 subunit of Phosphoinositide 3-kinase. J Biol Chem, Vol 274, 10963-10968, 1999. 104. Greene NDE, Bernard DL, Tascher PEM, Lake BD, deVos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL and Mitchison HM: A Murine Model for Juvenile NCL: Gene Targeting of Mouse Cln3. Molecular Genetics and Metabolism 66:309-313, 1999. 105. Mitchison HN, Bernard DJ, Greene NDE, Cooper JD, Junaid MA, Pullarkat RK, Breuning MH, Owens JW, Mobley WC, Lake BD, Taschner PEM, and Nussbaum RL: Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. Neurobiology of Disease, 6:321-334, 1999. 106. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF: Ocrl1, a PtdIns(4,5)P2 5-phosphatase, is localized to the trans-golgi network of fibroblasts and epithelial cells. J Histochem Cytochem 48:179-90, 2000.

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107. Gispert S, Dutra A, Lieberman A, Friedlich D, Nussbaum RL: Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter. DNA Res 7(6):339-45, 2000. 108. Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum RL. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet 95:461-466, 2000. 109. Ellis CE, Schwartzberg PL, Grider TL, Fink DW and Nussbaum RL: AlphaSynuclein is Phosphorylated by Members of the Src Family of Protein Tyrosine Kinases, J Biol Chem, 276:3879-3884, 2001. 110. Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, and Nussbaum RL: Human and Mouse Alpha-Synuclein Genes: Comparative Genomic Sequence Analysis and Identification of a Novel Gene Regulatory Element, Genome Res, 11(1):78-86, 2001. 111. Hellsten E, Evans JP, Bernard DJ, Jänne PA, Nussbaum RL: Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5phosphatase Inpp5b. Dev Biol, 240:641-653, 2001. 112. Chiba-Falek O, Nussbaum RL: Effect of allelic variation at the NACP-Rep1 repeat upstream of the -synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum Mol Genet, 10(26):3101-9, 2001. 113. Greene NDE, Lythgoe MF, Thomas DL Nussbaum RL, Bernard DJ and Mitchison HM: High resolution MRI reveals global changes in brains of Cln3 mutant mice. Eur J of Paediatr Neurol 5(Suppl A), 103-107, 2001. 114. Lavedan C, Buchholtz S, Nussbaum RL, Albin RL, and Polymeropoulos MH: A mutation in the neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration, Neurosci Letters, 322:57-61, 2002. 115. Bi L, Okabe I, Bernard DJ and Nussbaum RL: Early embryonic lethality in mice deficient in the p110 catalytic subunit of PI 3-kinase. Mamm Genome, 13(3):169-72, 2002 116. Hellsten E, Bernard DJ, Owens JW, Eckhaus M, Suchy SF, and Nussbaum RL: Perturbations in cell adhesion and endocytosis in mice deficient in the inositol polyphosphate 5-phosphatase (Inpp5b). Biol Reprod, 66(5):1522-30, 2002. 117. Cole NB, Murphy DD, Grider T, Rueter S, Brasaemle D and Nussbaum RL: Lipid Droplet Binding and Oligomerization Properties of the Parkinson's Disease Protein Alpha-Synuclein. J Biol Chem, 277:6344-52, 2002.

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118. Seigel GM, Lotery A, Kummer A, Bernard D, Greene NDE, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, and Mitchison HM: Retinal pathology and function in a cln3- knockout mouse model of Juvenile Ceroid Lipofuscinosis (Batten Disease). Mol Cell Neurosci 19:515-527, 2002. 119. Sotiriou S, Gispert S, Cheng J, Wang Y-H, Chen A, Hoogstraten-Miller S, Miller GF, Levine MA, Guttentag SH and Nussbaum, RL: Ascorbic acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. Nature Med, 8(5):514-7, 2002. 120. Cabin DE, Shimazu K, Murphy DD, Cole NB, Gottschalk W, McIlwain KC, Orrison BM, Chen A, Ellis CE, Paylor R, Lu B, and Nussbaum RL: Synaptic vesicle depletion correlates with attenuated synaptic responses to low frequency stimulation in mice lacking -synuclein. J Neurosci, 22(20):8797-807, 2002. 121. Suchy SF and Nussbaum RL: The deficiency of the ocrl1 PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet, 71:1420-1427, 2002. 122. Brooks AI, Chattopadhyay S, Mitchison HM, Nussbaum RL and Pearce DA: Functional Categorization of Gene Expression Changes in the Cerebellum of a Cln3Knockout Mouse Model for Batten Disease. Molec Genet Metab, 78:17-30, 2003. 123. Witmer PD, Doheny KF, Adams MK, Boehm CD, Dizon JS, Goldstein JL, Templeton TM, Wheaton AM, Dong PN, Pugh EW, Nussbaum RL, Hunter K, Kelmenson JA, Rowe LB, and Brownstein MJ: The development of a highly informative mouse simple sequence length polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis. Genome Research, 13:485-91, 2003. 124. Wenk MR, Lucast L, Di Paolo G, Romanelli AJ, Suchy SF, Nussbaum RL, Cline GW, Shulman GI, McMurray W, and De Camilli P: Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry. Nature Biotechnology, 21:813-7, 2003. 125. Gispert S, Del Turco D, Garrett L, Chen A, Bernard DJ, Hamm-Clement J, Korf HW, Deller T, Braak H, Auburger G, and Nussbaum RL: Substantia nigra pathology and abnormal motor behavior in transgenic mice expressing mutant A53T human alphasynuclein. Molec Cell Neurosci, 24:419-29, 2003. 126. Bornstein SR, Yoshida-Hiroi M, Sotiriou S, Levine M, Hartwig H-G, Nussbaum RL and Eisenhofer G: Impaired adrenal catecholamine system function in transgenic mice with deficiency of the ascorbic acid transporter (SVCT2) FASEB J, 17:1928-30, 2003. 127. Chiba-Falek O, Touchman JM and Nussbaum RL: Sequence variation at the NACP-Rep1 repeat upstream of the -synuclein gene (SNCA), Human Genetics 113:426-431, 2003.

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128. Gibbs, RA, Belmont, JW, Hardenbol, P et al.: The International HapMap Project. Nature, 18:789-96. 2003 129. Chiba-Falek O and Nussbaum RL: Regulation of a-Synuclein Expression: Implications for Parkinson's Disease, Cold Spring Harbor Symposia, 68:409-415, 2004. 130. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, GwinnHardy K: Alpha-Synuclein locus triplication causes Parkinson's disease. Science 302:841, 2003. 131. Gamm J, Nussbaum RL, Biesecker BB. Genetics and Alcoholism Among At-Risk Relatives I: Perceptions of Cause, Risk, and Control. Amer J Med Genet 128A(2): 144150, 2003. 132. Gamm J, Nussbaum RL, Biesecker BB, Genetics and Alcoholism Among At-Risk Relatives II: Interest and Concerns about Hypothetical Genetic Testing for Alcoholism Risk. Amer J Med Genet 128A(2): 151-155, 2003. 133. Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Singleton AA, McInerneyLeo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Baptista M, Burn DJ, Miller D, Ryu M, Ravina B, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J and Singleton AB: SNCA multiplication is not a common cause of Parkinson's disease or dementia with Lewy bodies. Neurology 63(3):554-556, 2004. 134. McInerney-Leo A, Gwinn-Hardy K, Nussbaum RL: Prevalence of Parkinson's disease in populations of African ancestry: a review. J Natl Med Assoc 96:974-979, 2004. 135. Goker-Alpan O, Schiffman R, LaMarca ME, Nussbaum RL, McInerney-Leo A and Sidransky E: Parkinsonism Among Gaucher Disease Carriers. J Med Genet, 41:937-940, 2004. 136 Herrick E, Nussbaum RL, Holtzman N and Wissow L. ASKING FATHERS: A study of psychosocial adaptation, Hemophilia, 10(5):582-9. 137. Schmid AC, Wise HM, Mitchell CA, Nussbaum RL, Woscholski R: Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation. FEBS Letters 576:9-13, 2004. 138. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, GonzalezMaldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304(5674):1158-60. Epub 2004 Apr 15.

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139. Rogaeva, E, Johnson, J, Lang, AE, Gulick, C, Gwinn-Hardy, K, Kawarai, T, Sato, C, Morgan, A, Werner, J, Nussbaum, RL et al.: Analysis of the PINK1 gene in a large cohort of cases with Parkinson's Disease, Arch Neurol 61: 1898-1904, 2004. 140. Cabin DE, Gispert-Sanchez, S, Murphy D, Auburger, G, Myers R, Nussbaum RL Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background. Neurobiology of Aging, 26(1):25-35, 2005. 141. Cole NB, Murphy D, Leibowitz J, diNoto L, Levine RL and Nussbaum RL: Metalcatalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofilaments and filaments, J Biol Chem, 280(10):9678-90, 2005. 142. Ulmer, TS, Bax, A. Cole, NB and Nussbaum, RL. Structure and dynamics of micelle-bound human -synuclein, J Biol Chem, 280(10):9595-603, 2005. 143. Hoopes RR, Shrompton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL and Scheinman SJ: Dent disease with mutation in OCRL1, Amer J Hum Genet, 76:260-267, 2005. 144. Hernandez D, Paisán-Ruiz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson , Auburger G, Schaffer A, Lopez G, Nussbaum RL and Singleton AB. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Ann Neurol, 57(3):453-6, 2005. 145. Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum RL, Cookson MR, Singleton AB, Hardy J and Dogu O. Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neuroscience Letters, 374(3):189-91, 2005. 146. Chiba-Falek , O, Kowalak, JA, Smulson, ME, and Nussbaum, RL. Regulation of synuclein expression by Poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene, Amer J Hum Genet, 76(3):478-92, 2005. 147. Lelievre E, Bourbon PM, Duan LJ, Nussbaum RL and Fong GH: Deficiency in the p110 subunit of PI 3-kinase results in diminished Tie-expression and Tie-2-/--like vascular defects in mice. Blood 105:3935-8, 2005. 148. Meyer-Lindenberg A, Kohn PD, Kolachana B, Kippenham S, McInerney-Leo, A, Nussbaum R, Weinberger DR and Berman KF. Midbrain dopamine synthesis and prefrontal cortical function are related in humans in vivo and modulated by COMT genotype, Nature Neuroscience 8:594-6, 2005. 149. Golovko, MY, Castagnet PI, Nussbaum RL and Murphy EJ. Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding. Biochem. 44:8251-8259, 2005.

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150. Castagnet PI, Nussbaum RL and Murphy EJ. Fatty acid incorporation is decreased in astrocytes cultured from -synuclein gene-ablated mice, J. of Neurochem. 94:839-49, 2005. 151. Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum RL, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clar