Ehud Goldin

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV
    Ehud Goldin
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland 20892 1260, USA
    Hum Mutat 24:460-5. 2004
  2. doi request reprint Isolated ocular disease is associated with decreased mucolipin-1 channel conductance
    Ehud Goldin
    Molecular Neurogenetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Invest Ophthalmol Vis Sci 49:3134-42. 2008
  3. pmc Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity
    Juan J Marugan
    NIH Chemical Genomic Center, National Human Genome Research Institute, National Institutes of Health, 9800 Medical Center Drive, Rockville, Maryland, United States
    J Med Chem 54:1033-58. 2011
  4. pmc Gaucher disease and parkinsonism, a molecular link theory
    Ehud Goldin
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 101:307-10. 2010
  5. pmc Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators
    Juan J Marugan
    NIH Chemical Genomic Center, National Human Genome Research Institute, National Institutes of Heath, 9800 Medical Center Drive, Rockville, MD, USA
    Eur J Med Chem 45:1880-97. 2010
  6. pmc Mucolipidosis type IV: an update
    Kazuyo Wakabayashi
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 104:206-13. 2011
  7. pmc The role of saposin C in Gaucher disease
    Rafael J Tamargo
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 106:257-63. 2012
  8. ncbi request reprint Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV
    Janine A Smith
    National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1857, Bethesda, MD 20892, USA
    Ophthalmology 109:588-94. 2002
  9. pmc A new resorufin-based alpha-glucosidase assay for high-throughput screening
    Omid Motabar
    NIH Chemical Genomics Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Anal Biochem 390:79-84. 2009
  10. pmc Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease
    Wei Zheng
    NIH Chemical Genomics Center, National Human Genome Research Institute, National Institutes of Health, 9800 Medical Center Drive, MSC 3370, Bethesda, MD 20892 3370, USA
    Proc Natl Acad Sci U S A 104:13192-7. 2007

Collaborators

Detail Information

Publications15

  1. ncbi request reprint Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV
    Ehud Goldin
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland 20892 1260, USA
    Hum Mutat 24:460-5. 2004
    ..This is the first report of an inherited transfer of mitochondrial nuclear DNA causing a genetic disease. The elimination of the splice site by the mitochondrial DNA requires a change in splicing prediction models...
  2. doi request reprint Isolated ocular disease is associated with decreased mucolipin-1 channel conductance
    Ehud Goldin
    Molecular Neurogenetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Invest Ophthalmol Vis Sci 49:3134-42. 2008
    ..To evaluate a 15-year-old boy with MLIV (mucolipidosis type IV) and clinical abnormalities restricted to the eye who also had achlorhydria with elevated blood gastrin levels...
  3. pmc Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity
    Juan J Marugan
    NIH Chemical Genomic Center, National Human Genome Research Institute, National Institutes of Health, 9800 Medical Center Drive, Rockville, Maryland, United States
    J Med Chem 54:1033-58. 2011
    ....
  4. pmc Gaucher disease and parkinsonism, a molecular link theory
    Ehud Goldin
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 101:307-10. 2010
    ..Both hypotheses are not sufficient to explain the linkage. In order to develop a more inclusive theory we introduced into the model the prion theory and the second hit. Other possibilities are also brought into consideration...
  5. pmc Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators
    Juan J Marugan
    NIH Chemical Genomic Center, National Human Genome Research Institute, National Institutes of Heath, 9800 Medical Center Drive, Rockville, MD, USA
    Eur J Med Chem 45:1880-97. 2010
    ..Herein we report our initial findings of a new series of acid alpha-glucosidase activators...
  6. pmc Mucolipidosis type IV: an update
    Kazuyo Wakabayashi
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 104:206-13. 2011
    ..An enhanced awareness of the manifestations of this disorder may help to elucidate the true frequency and range of symptoms associated with MLIV, providing insight into the pathogenesis of this multi-system disease...
  7. pmc The role of saposin C in Gaucher disease
    Rafael J Tamargo
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 106:257-63. 2012
    ..The role of saposin C as an activator required for normal glucocerebrosidase function, and the consequences of saposin C deficiency are described, and are being explored as potential modifying factors in patients with Gaucher disease...
  8. ncbi request reprint Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV
    Janine A Smith
    National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1857, Bethesda, MD 20892, USA
    Ophthalmology 109:588-94. 2002
    ..To comprehensively describe the ophthalmic characteristics of patients with mucolipidosis type IV...
  9. pmc A new resorufin-based alpha-glucosidase assay for high-throughput screening
    Omid Motabar
    NIH Chemical Genomics Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Anal Biochem 390:79-84. 2009
    ..Therefore, this new fluorogenic substrate is a useful tool for the alpha-glucosidase enzyme assay and will facilitate compound screening for the development of new therapies for Pompe disease...
  10. pmc Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease
    Wei Zheng
    NIH Chemical Genomics Center, National Human Genome Research Institute, National Institutes of Health, 9800 Medical Center Drive, MSC 3370, Bethesda, MD 20892 3370, USA
    Proc Natl Acad Sci U S A 104:13192-7. 2007
    ..These small molecules have potential as leads for chaperone therapy for Gaucher disease, and this paradigm promises to accelerate the development of leads for other rare genetic disorders...
  11. ncbi request reprint Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV
    Janice M LaPlante
    Division of Endocrinology, Diabetes and Hypertension and Membrane Biology Program, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Biochem Biophys Res Commun 322:1384-91. 2004
    ....
  12. pmc Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis
    Sebastian Treusch
    Department of Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85721, USA
    Proc Natl Acad Sci U S A 101:4483-8. 2004
    ..Finally, we propose a model that relates the lysosome biogenesis defect in the absence of CUP-5/h-mucolipin-1 to cellular phenotypes in worms and in humans...
  13. ncbi request reprint Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel
    Malay K Raychowdhury
    Renal Unit, Massachusetts General Hospital East, Charlestown 02129, USA
    Hum Mol Genet 13:617-27. 2004
    ..The evidence also supports a novel role for cation channels in the acidification and normal endosomal function...
  14. ncbi request reprint Insertion of mutant proteolipid protein results in missorting of myelin proteins
    Catherine Vaurs-Barriere
    National Institute of Health and Medical Research U384, Clermont Ferrand, France
    Ann Neurol 54:769-80. 2003
    ..We conclude that insertion of mutant PLP/DM20 with resulting aberrant distribution of other myelin proteins in peripheral nerve may constitute an important mechanism of dysmyelination in disorders associated with PLP mutations...
  15. ncbi request reprint Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging
    Simona Bonavita
    Second Division of Neurology, Second University of Naples, Italy
    J Child Neurol 18:443-9. 2003
    ..Mucolipin deficiency impairs motor more than sensory central nervous system pathways...