E Goldin

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Mucolipidosis IV consists of one complementation group
    E Goldin
    Developmental Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20982 1260, USA
    Proc Natl Acad Sci U S A 96:8562-6. 1999
  2. pmc Linkage of Niemann-Pick disease type C to human chromosome 18
    E D Carstea
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 90:2002-4. 1993
  3. ncbi request reprint The neurogenetics of mucolipidosis type IV
    G Altarescu
    Developmental and Metabolic Neurology Branch, National Institute of Neurologic Disorders and Stroke NIH, 9000 Rockville Pike, Building 10, Rm 3D03, Bethesda, MD 20892 1260, USA
    Neurology 59:306-13. 2002
  4. pmc Constitutive achlorhydria in mucolipidosis type IV
    R Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 95:1207-12. 1998
  5. ncbi request reprint Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
    M Sun
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 9:2471-8. 2000
  6. ncbi request reprint The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol
    P G Pentchev
    Molecular and Cellular Pathophysiology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    Biochim Biophys Acta 1225:235-43. 1994

Collaborators

Detail Information

Publications6

  1. pmc Mucolipidosis IV consists of one complementation group
    E Goldin
    Developmental Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20982 1260, USA
    Proc Natl Acad Sci U S A 96:8562-6. 1999
    ..These results indicate that all of our known MLIV patients, regardless of ancestry or severity of the developmental defect, have a single mutated gene...
  2. pmc Linkage of Niemann-Pick disease type C to human chromosome 18
    E D Carstea
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 90:2002-4. 1993
    ..84. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18...
  3. ncbi request reprint The neurogenetics of mucolipidosis type IV
    G Altarescu
    Developmental and Metabolic Neurology Branch, National Institute of Neurologic Disorders and Stroke NIH, 9000 Rockville Pike, Building 10, Rm 3D03, Bethesda, MD 20892 1260, USA
    Neurology 59:306-13. 2002
    ..Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for mucolipin, a member of the transient receptor potential (TRP) gene family...
  4. pmc Constitutive achlorhydria in mucolipidosis type IV
    R Schiffmann
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 95:1207-12. 1998
    ....
  5. ncbi request reprint Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
    M Sun
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 9:2471-8. 2000
    ..The role of a potential receptor-stimulated cation channel defect in the pathogenesis of mucolipidosis IV is discussed...
  6. ncbi request reprint The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol
    P G Pentchev
    Molecular and Cellular Pathophysiology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    Biochim Biophys Acta 1225:235-43. 1994