R L Nussbaum

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc What is special about the "human" in "human genetics"?
    Robert L Nussbaum
    Genetic Disease Research Branch, National Human Genome Research Institute, 49 4A72 National Institutes of Health, 49 Convent Drive MSC4472, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:198-202. 2005
  2. ncbi request reprint Alzheimer's disease and Parkinson's disease
    Robert L Nussbaum
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    N Engl J Med 348:1356-64. 2003
  3. ncbi request reprint Genetics of Parkinson's disease
    R L Nussbaum
    Laboratory of Genetic Diseases Research, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Hum Mol Genet 6:1687-91. 1997
  4. ncbi request reprint Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients
    T Lin
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
    Mol Genet Metab 64:58-61. 1998
  5. ncbi request reprint Identification, localization and characterization of the human gamma-synuclein gene
    C Lavedan
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Genet 103:106-12. 1998
  6. ncbi request reprint Genomic organization and expression of the human beta-synuclein gene (SNCB)
    C Lavedan
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA
    Genomics 54:173-5. 1998
  7. ncbi request reprint Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    M H Polymeropoulos
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1430, USA
    Science 276:2045-7. 1997
  8. pmc Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element
    J W Touchman
    NIH Intramural Sequencing Center, National Institutes of Health, Gaithersburg, Maryland 20877, USA
    Genome Res 11:78-86. 2001
  9. ncbi request reprint Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells
    M A Dressman
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    J Histochem Cytochem 48:179-90. 2000
  10. ncbi request reprint Regulation of alpha-synuclein expression: implications for Parkinson's disease
    O Chiba-Falek
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Cold Spring Harb Symp Quant Biol 68:409-15. 2003

Collaborators

Detail Information

Publications49

  1. pmc What is special about the "human" in "human genetics"?
    Robert L Nussbaum
    Genetic Disease Research Branch, National Human Genome Research Institute, 49 4A72 National Institutes of Health, 49 Convent Drive MSC4472, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:198-202. 2005
  2. ncbi request reprint Alzheimer's disease and Parkinson's disease
    Robert L Nussbaum
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    N Engl J Med 348:1356-64. 2003
  3. ncbi request reprint Genetics of Parkinson's disease
    R L Nussbaum
    Laboratory of Genetic Diseases Research, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Hum Mol Genet 6:1687-91. 1997
    ..There may be common pathogenetic mechanisms involved in alpha-synuclein mutations in PD and beta-amyloid and presenilin gene mutations in Alzheimer's disease...
  4. ncbi request reprint Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients
    T Lin
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
    Mol Genet Metab 64:58-61. 1998
    ..Interestingly, missense mutations have occurred only in exons 12 through 15 in highly conserved residues among the phosphatidylinositol 5-phosphatases. These observations suggest useful strategies for mutation screening in OCRL...
  5. ncbi request reprint Identification, localization and characterization of the human gamma-synuclein gene
    C Lavedan
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Genet 103:106-12. 1998
    ..The gamma-synuclein gene, also known as BCSG1, was recently found to be overexpressed in advanced infiltrating carcinoma of the breast. Our survey of the EST database indicated that it might also be overexpressed in an ovarian tumor...
  6. ncbi request reprint Genomic organization and expression of the human beta-synuclein gene (SNCB)
    C Lavedan
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA
    Genomics 54:173-5. 1998
    ....
  7. ncbi request reprint Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    M H Polymeropoulos
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1430, USA
    Science 276:2045-7. 1997
    ..This finding of a specific molecular alteration associated with PD will facilitate the detailed understanding of the pathophysiology of the disorder...
  8. pmc Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element
    J W Touchman
    NIH Intramural Sequencing Center, National Institutes of Health, Gaithersburg, Maryland 20877, USA
    Genome Res 11:78-86. 2001
    ..Together, these studies provide valuable data that should facilitate more detailed analysis of this medically important gene...
  9. ncbi request reprint Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells
    M A Dressman
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    J Histochem Cytochem 48:179-90. 2000
    ..The epithelial cell phenotype in Lowe syndrome and the localization of ocrl1 to the TGN imply that this PtdIns(4,5)P(2) 5-phosphatase plays a role in trafficking. (J Histochem Cytochem 48:179-189, 2000)..
  10. ncbi request reprint Regulation of alpha-synuclein expression: implications for Parkinson's disease
    O Chiba-Falek
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Cold Spring Harb Symp Quant Biol 68:409-15. 2003
  11. ncbi request reprint Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter
    S Gispert
    Genetic Disease Research Branch, National Human Genome Research Institute, and Howard Hughes Medical Institute, NIH, Bethesda, Maryland 20892 4472, USA
    DNA Res 7:339-45. 2000
    ..Neurodegenerative diseases with an established role for oxidative stress in the cytoplasm may therefore be conditions of SLC23A1 dysfunction. Key words: gene structure; Vitamin C; transporter; oxidative stress..
  12. ncbi request reprint Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system
    O Chiba-Falek
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, MSC 4472, Bethesda, MD 20892 4472, USA
    Hum Mol Genet 10:3101-9. 2001
    ....
  13. ncbi request reprint Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease
    C Lavedan
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    DNA Res 5:401-2. 1998
  14. ncbi request reprint First report of prenatal biochemical diagnosis of Lowe syndrome
    S F Suchy
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Prenat Diagn 18:1117-21. 1998
    ..We report here the first case of prenatal diagnosis for Lowe syndrome by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes...
  15. ncbi request reprint Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b
    E Hellsten
    Genetic Diseases Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    Dev Biol 240:641-53. 2001
    ..Inpp5b(-/-) mice provide an excellent model to study the role of Sertoli and epididymal epithelial cells in the differentiation and maturation of sperm...
  16. ncbi request reprint Proliferative defect and embryonic lethality in mice homozygous for a deletion in the p110alpha subunit of phosphoinositide 3-kinase
    L Bi
    Genetic Diseases Research Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 274:10963-8. 1999
    ..A proliferative defect is supported by the observation that fibroblasts from Pik3cadel/del embryos fail to replicate in Dulbecco's modified Eagle's medium and fetal calf serum, even with supplemental growth factors...
  17. ncbi request reprint Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain
    R A Bascom
    Genetic Disease Research Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 274:2953-62. 1999
    ..Data base searching also indicates golgin-84 is similar in structure and sequence to giantin, a membrane protein that tethers coatamer complex I vesicles to the Golgi...
  18. doi request reprint Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1
    S F Suchy
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    J Inherit Metab Dis 32:280-8. 2009
    ..We show that the abnormal bradykinin signalling occurs in spite of normal total cellular receptor content. These data point to a novel role for ocrl1 in agonist-induced calcium release...
  19. pmc Parkinsonism among Gaucher disease carriers
    O Goker-Alpan
    Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892 3708, USA
    J Med Genet 41:937-40. 2004
    ..Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease...
  20. ncbi request reprint SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies
    J Johnson
    Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA
    Neurology 63:554-6. 2004
    ..The authors did not identify any subjects with multiplication of SNCA and conclude this mutation is a rare cause of disease...
  21. ncbi request reprint alpha-synuclein is phosphorylated by members of the Src family of protein-tyrosine kinases
    C E Ellis
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 276:3879-84. 2001
    ..These data suggest that alpha-Syn can be a target for phosphorylation by the Src family of PTKs...
  22. ncbi request reprint Mapping of a gene for Parkinson's disease to chromosome 4q21-q23
    M H Polymeropoulos
    Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892 1430, USA
    Science 274:1197-9. 1996
    ..00 for marker D4S2380. This finding will facilitate identification of the gene and research on the pathogenesis of PD...
  23. pmc Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome
    T Lin
    Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 60:1384-8. 1997
    ..Missense mutations that abolish enzyme activity but not expression of the protein will be useful for studying structure-function relationships in PtdIns(4,5)P2 5-phosphatases...
  24. pmc Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein
    Christopher E Ellis
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Dr, MSC 4472, Bethesda, Maryland 20892 4472, USA
    Mol Cell Biol 25:10190-201. 2005
    ..Thus, altered membrane composition and structure and impaired complex I/III function in Snca-/- brain suggest a relationship between alpha-synuclein's role in brain lipid metabolism, mitochondrial function, and PD...
  25. ncbi request reprint Metal-catalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofibrils, and filaments
    Nelson B Cole
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 280:9678-90. 2005
    ....
  26. pmc Mitochondrial translocation of alpha-synuclein is promoted by intracellular acidification
    Nelson B Cole
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Exp Cell Res 314:2076-89. 2008
    ..These results imply a direct role for alpha-synuclein in mitochondrial physiology, especially under pathological conditions, and in principle, link alpha-synuclein to other PD genes in regulating mitochondrial homeostasis...
  27. ncbi request reprint Structure and dynamics of micelle-bound human alpha-synuclein
    Tobias S Ulmer
    Laboratory of Chemical Physics, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 280:9595-603. 2005
    ....
  28. pmc Dent Disease with mutations in OCRL1
    Richard R Hoopes
    Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA
    Am J Hum Genet 76:260-7. 2005
    ..It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised...
  29. ncbi request reprint Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation
    Janel Johnson
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA
    Neurodegener Dis 4:386-91. 2007
    ..Recently, mutations in LRRK2 encoding the protein dardarin have been linked to an autosomal dominant form of parkinsonism...
  30. ncbi request reprint Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6
    Hans Hermann Hoepken
    Section for Molecular Neurogenetics, Clinic for Neurology, University Hospital, Theodor Stern Kai 7, 60590 Frankfurt M, Germany
    Neurobiol Dis 25:401-11. 2007
    ..These data indicate that PINK1 function is critical to prevent oxidative damage and that peripheral cells may be useful for studies of progression and therapy of PARK6...
  31. ncbi request reprint Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding
    Mikhail Y Golovko
    Department of Pharmacology, Physiology, and Therapeutics, University of North Dakota, Grand Forks, North Dakota 58202 9037, USA
    Biochemistry 44:8251-9. 2005
    ..Thus, alpha-synuclein has effects on 16:0 uptake and metabolism similar to those of an FABP, but unlike FABP, it does not directly bind 16:0; hence, the mechanism underlying these effects is different from that of a classical FABP...
  32. pmc Mining yeast in silico unearths a golden nugget for mitochondrial biology
    Robert L Nussbaum
    Genetic Diseases Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    J Clin Invest 115:2689-91. 2005
    ..The research described here combines clever model organism genomics and bioinformatics with sophisticated human molecular and biochemical genetics to identify the first mammalian protein required for the normal assembly of complex I...
  33. pmc Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene
    Ornit Chiba-Falek
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 76:478-92. 2005
    ..The association of different NACP-Rep1 alleles with PD may be mediated, in part, by the effect of PARP-1, as well as other factors, on SNCA expression...
  34. ncbi request reprint Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synuclein
    Nelson B Cole
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health Bethesda, Maryland 20982, USA
    J Biol Chem 277:6344-52. 2002
    ....
  35. pmc Prevalence of Parkinson's disease in populations of African ancestry: a review
    Aideen McInerney-Leo
    Medical Genetics Branch, National Human Genome Research Institute, Building 10, Room 3C710, 10 Center Drive, MSC 1253, Bethesda, MD 20892 1253, USA
    J Natl Med Assoc 96:974-9. 2004
    ....
  36. ncbi request reprint Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene
    Ornit Chiba-Falek
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive MSC 4472, Bethesda, Maryland 20892 4472, USA
    Hum Genet 113:426-31. 2003
    ....
  37. pmc The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization
    Sharon F Suchy
    National Human Genome Research Institute, Bethesda, MD 20892, USA
    Am J Hum Genet 71:1420-7. 2002
    ..These findings point to a general mechanism to explain how this PIP(2) 5-phosphatase deficiency might produce the Lowe syndrome phenotype...
  38. ncbi request reprint Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4
    Harriet M Loovers
    Department of Molecular Cell Biology, University of Groningen, Kerklaan 30, 9751NN Haren, The Netherlands
    Traffic 8:618-28. 2007
    ..Growth on bacteria and axenic medium is largely restored, whereas the rate of phagocytosis of yeast cells is partly restored, indicating that human OCRL can functionally replace Dictyostelium Dd5P4...
  39. ncbi request reprint A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration
    Christian Lavedan
    Novartis Pharmaceuticals Corporation, Pharmacogenetics, 9 W Watkins Mill Road, Gaithersburg, MD 20878, USA
    Neurosci Lett 322:57-61. 2002
    ..This finding suggests, for the first time, that aberrations in neuronal molecules involved in the cytoskeleton could lead to the development of the pathology seen in PD...
  40. ncbi request reprint Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background
    Deborah E Cabin
    National Human Genome Research Institute, 49 Convent Dr, Building 49, Room 4A72, NHGRI NIH, Bethesda, MD 20892, USA
    Neurobiol Aging 26:25-35. 2005
    ..These data suggest mouse alpha-synuclein is protective against the deleterious effects of the human mutant protein...
  41. pmc Research ethics recommendations for whole-genome research: consensus statement
    Timothy Caulfield
    Health Law Institute, University of Alberta, Edmonton, Alberta, Canada
    PLoS Biol 6:e73. 2008
  42. ncbi request reprint Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase
    Elina Hellsten
    Genetic Diseases Research Branch, National Human Genome Research Institute, Veterinary Resources Program, Office of Director, National Institutes of Health, 49 Convent Drive, Bethesda, MD 20892, USA
    Biol Reprod 66:1522-30. 2002
    ....
  43. ncbi request reprint Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease
    Andrew I Brooks
    Center for Functional Genomics, University of Rochester School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA
    Mol Genet Metab 78:17-30. 2003
    ....
  44. ncbi request reprint Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease)
    Gail M Seigel
    Department of Ophthalmology, University of Rochester School of Medicine, New York, USA
    Mol Cell Neurosci 19:515-27. 2002
    ....
  45. ncbi request reprint Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein
    Deborah E Cabin
    Genetic Diseases Research Branch, National Human Genome Research Institute, Bethesda, Maryland 20892 4472, USA
    J Neurosci 22:8797-807. 2002
    ..These results reveal, for the first time, the normal function of endogenous alpha-synuclein in regulating synaptic vesicle mobilization at nerve terminals...
  46. ncbi request reprint Clinical and positron emission tomography of Parkinson's disease caused by LRRK2
    Dena G Hernandez
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Department of Health and Human Services, Porter Neuroscience Research Center, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Ann Neurol 57:453-6. 2005
    ....
  47. ncbi request reprint Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formation
    Suzana Gispert
    Department of Anatomy II Experimental Neurobiology, University Frankfurt M, Frankfurt, Germany
    Mol Cell Neurosci 24:419-29. 2003
    ..Transgenic animals expressing mutant alpha-synuclein may be a valuable model to assess specific aspects of the pathogenesis of synucleinopathies...
  48. ncbi request reprint Proposed guidelines for papers describing DNA polymorphism-disease associations
    David N Cooper
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Hum Genet 110:207-8. 2002
    ..Guidelines are therefore proposed that are intended to promote the publication of scientifically meaningful disease association studies through the introduction of sensible methodological standards...
  49. ncbi request reprint Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients
    Ornit Chiba-Falek
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mov Disord 21:1703-8. 2006
    ....