Robert Nussbaum, MD

Robert Nussbaum, MD

Professor, Department of Medicine, and Chief, Division of Medical Genetics, UCSF
Holly Smith Distinguished Professorship in Science and Medicine, UCSF

Phone: (415) 476-3200 (voice)
Box 0794, UCSF
San Francisco, CA 94143-0794

UCSF Profiles

Cancer Center Membership

Associate Member » Cancer Genetics


Harvard College, AB, 1967-1971, Applied Mathematics
Harvard-MIT Joint Program in Health Sciences and Technology, MD, 1971-1975, Medicine
Washington University & Barnes Hospital, 1975-1978, Internal medicine
Baylor College of Medicine, 1978-1981, Medical Genetics

Professional Experience

  • 1981-1984
    Assistant Professor of Medicine, Baylor College of Medicine
  • 1983-1993
    Associate Investigator, Howard Hughes Medical Institute
  • 1984-1989
    Assistant Professor of Human Genetics & Pediatrics, Univ. of Pennsylvania
  • 1989-1993
    Associate Professor of Human Genetics & Pediatrics, Univ. of Pennsylvania
  • 1993-1994
    Professor of Genetics, Univ. of Pennsylvania
  • 1994-2006
    Chief, Genetic Disease Research Branch, National Human Genome Research Institute; NIH
  • 1996-2006
    Acting Chief, Inherited Disease Research Branch, NHGRI
  • 2006-present
    Holly Smith Chair and Professor of Medicine; Chief, Medical Genetics; Member, Institute of Human Genetics, UCSF. Professor of Neurology, UCSF
  • 2007-present
    Executive Committee of the Biomedical Graduate Studies Graduate Program. Medical Scientist Training Program Council

Honors & Awards

  • 1975Elected to Alpha Omega Alpha
  • 1977Outstanding Medical Resident, Barnes Hospital
  • 1986Medical Research Award, Lowe's Syndrome Association
  • 1987Elected Member, American Society for Clinical Investigation
  • 1989Master of Arts (honorary), University of Pennsylvania
  • 1991Sir Clavering Fison Visiting Professor, Institute for Child Health, Hospital for Sick Children, Great London, UK
  • 1993
    Medical Research Award, Lowe's Syndrome Association
  • 1994
    Morehouse School of Medicine Human Genome/Molecular Medicine Symposium Lecturer
  • 1996
    Medical Research Award, Lowe's Syndrome Association
  • 1996
    Elected Member, Association of American Physicians
  • 1996
    NHGRI Director's Award
  • 1996
    NIH Director's Award
  • 1998
    NHGRI Director's Award
  • 1999
    G. Burroughs Mider Lectureship, National Institutes of Health
  • 2003
    NHGRI Director's Award
  • 2003
    Forbes Lectureship, Medical College of Virginia
  • 2004
    Elected Member, Institute of Medicine of the National Academy of Science
  • 2004
    NHGRI Director's Distinguished Service Award
  • 2008
    Legacy Award, Lowe's Syndrome Research, for over two decades of Lowe Syndrome Research

Selected Publications

  • 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
  • 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, R.L.. Mutation in the -Synuclein Gene Identified in Families with Parkinson's Disease. Science 276:2045-2047, 1997. [link]
  • Ellis CE, Schwartzberg PL, Grider TL, Fink DW and Nussbaum R.L.. Alpha-Synuclein is Phosphorylated by Members of the Src Family of Protein Tyrosine Kinases, J Biol Chem, 276:3879-3884, 2001. [link]
  • Chiba-Falek, O., Nussbaum, R.L. 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. [link]
  • Cole, N.B., Murphy, D.D., Grider, T., Rueter, S., Brasaemle, D. and Nussbaum, R.L. Lipid Droplet Binding and Oligomerization Properties of the Parkinson's Disease Protein Alpha-Synuclein, J Biol Chem, 277:6344-52, 2002. [link]
  • Sotiriou,S, Gispert, S, Cheng, J, Wang, Y-H, Chen, A, Hoogstraten-Miller, S, Miller, GF, Levine, MA, Guttentag, SH and Nussbaum, R.L.. Ascorbic acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival, Nature Med, 8(5):514-7, 2002. [link]
  • Cabin, DE, Shimazu, K, Murphy, DD, , Cole, NB, Gottschalk, W, McIlwain, KC, Orrison, BM, Chen, A, Ellis, CE, Paylor, R, Lu, B, and Nussbaum, R.L.. Synaptic vesicle depletion correlates with attenuated synaptic responses to low frequency stimulation in mice lacking (-synuclein, J. Neurosci 22(20):8797-807, 2002. [link]
  • Gispert, S, Del Turco D, Garrett L, Chen A, Bernard DJ, Hamm-clement J, Korf H-W, Deller T, Braak H, Auburger G, and Nussbaum, RL. Substantia nigra pathology and abnormal motor behavior in transgenic mice expressing mutant A53T human alpha-synuclein, Molec Cell Neurosci, 24:419-29, 2003. [link]
  • Chiba-Falek, O, Touchman, JM and Nussbaum, RL: Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene., Human Genetics 113(5):426-31,2003. [link]
  • 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, Gwinn-Hardy K. Alpha-Synuclein locus triplication causes Parkinson's disease. Science 302:841, 2003. [link]
  • 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, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW.)2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304(5674):1158-60. [link]
  • 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. [link]
  • 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. [link]
  • 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. [link]
  • 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. (PMC1196371)
  • Cole NB, Murphy D, Leibowitz J, diNoto L, Levine RL and Nussbaum RL: Metal-catalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofilaments and filaments, J Biol Chem 280(10):9678-90, 2005 [link]
  • 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 Neuro l57(3):453-6, 2005. [link]
  • 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. (PMC1196399)
  • 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. [link]
  • Golovko, MY, Castagnet PI, Nussbaum RL and Murphy EJ. -Synuclein Expression Enhances Brain Palmitate Uptake and Differentially Affects Palmitate Incorporation and Turnover in Brain Phospholipids, Biochem. 44:8251-8259, 2005. [link]
  • 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. [link]
  • Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum RL, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J. Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett. 382(1-2):191-194, 2005. [link]
  • Ellis CE, Murphy EJ, Mitchell DC, Golovko MY, Scaglia F, Barcelo-Coblijn GC and Nussbaum RL. Mitochondrial Lipid Abnormality and Electron Transport Chain Impairment in Mice Lacking -synuclein. Mol. Cell. Biol, 25:10190-10201, 2005. (PMC1280279)
  • Golovko MY, Rosenberger TA, Faergeman NJ, Feddersen S, Cole NB, Pribill I, Berger J, Nussbaum RL and Murphy EJ (2006) Acyl-CoA synthetase activity links wild-type but not mutant -synuclein to brain arachidonate metabolism. Biochemistry, 45:6956-6966. [link]
  • Hoepken H-H, Gispert S, Morales B, Wingerter O, Del Turco D, Mulsch A, Nussbaum RL, et al. (2006) Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiology of Disease, 25(2):401-11.
  • Chiba-Falek O, Lopez GJ, and Nussbaum RL. (2006) Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients. Movement Disorders, 21(10):1703-8. [link]
  • Entezam A, Biacs R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL and Usdin K. (2007) Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.. Gene 395:125-34. (PMC1950257).
  • Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener Dis. 4(5):386-91, 2007. [link]
  • Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, Growdon JH, Gwinn-Hardy KA, Hardy J, Heutink P, Iwatsubo T, Kosaka K, Lee VM, Leverenz JB, Masliah E, McKeith IG, Nussbaum RL, Olanow CW, Ravina BM, Singleton AB, Tanner CM, Trojanowski JQ, Wszolek ZK; DLB/PDD Working Group. (2007) DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology. Mar 13;68(11):812-9.
  • Caulfield T, McGuire AL, Cho, M, Buchanan, JA, Burgess, MM, Danilczyk U, Diaz CM, Fryer-Edwards K, Green SK, Hodosh MA, Juengst ET, Kaye J, Kedes L, Knoppers BM, Lemmens T, Meslin EM, Murphy J, Nussbaum RL, Otlowski M, Pullman D, Ray PN, Sugarman and Timmons W. (2008) Research Ethics Recommendations for Whole-Genome Research: Consensus Statement. PLoS Biology. 6:0430-0435. (PMC2270329)
  • Cole NB, Murphy DD, Leo P, Mitchell DC and Nussbaum RL. Intracellular pH promotes a-synuclein translocation to mitochondria, Exp. Cell Res., 314(10):2076-89 2008.
  • McFarland MA, Ellis CE, Markey SP, Nussbaum RL. Proteomic analysis identifies phosphorylation-dependent -synuclein protein interactions. 2008 Nov;7(11):2123-37.