Ellen Sidransky

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Gaucher disease: insights from a rare Mendelian disorder
    Ellen Sidransky
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Discov Med 14:273-81. 2012
  2. pmc The link between the GBA gene and parkinsonism
    Ellen Sidransky
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Lancet Neurol 11:986-98. 2012
  3. pmc Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    E Sidransky
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD 20892 3708, USA
    N Engl J Med 361:1651-61. 2009
  4. ncbi request reprint Heterozygosity for a Mendelian disorder as a risk factor for complex disease
    E Sidransky
    Section on Molecular Neurogenetics, Clinical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892 3708, USA
    Clin Genet 70:275-82. 2006
  5. ncbi request reprint Therapy for Gaucher disease: don't stop thinking about tomorrow
    Ellen Sidransky
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Building 35, Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892, USA
    Mol Genet Metab 90:122-5. 2007
  6. pmc High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase
    Ehud Goldin
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e29861. 2012
  7. pmc The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
    Ozlem Goker-Alpan
    Section on Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, 35 Convent Dr, MSC 3708, Bldg 35, Room 1A213, Bethesda, MD 20892 3708, USA
    Arch Neurol 65:1353-7. 2008
  8. ncbi request reprint Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup
    Joseph K Park
    Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
    Pediatr Res 53:387-95. 2003
  9. pmc Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase
    Zhen Dan Shi
    Imaging Probe Development Center, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Anal Bioanal Chem 394:1903-9. 2009
  10. 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

Detail Information

Publications84

  1. pmc Gaucher disease: insights from a rare Mendelian disorder
    Ellen Sidransky
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Discov Med 14:273-81. 2012
    ..In fact, unraveling the factors contributing to heterogeneity in a single gene disorder may have a direct impact on studies of the pathophysiology and therapeutic options available for these more common and complex neurologic diseases...
  2. pmc The link between the GBA gene and parkinsonism
    Ellen Sidransky
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Lancet Neurol 11:986-98. 2012
    ..Identification of the pathological mechanisms underlying GBA-associated parkinsonism will improve our understanding of the genetics, pathophysiology, and treatment for both rare and common neurological diseases...
  3. pmc Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    E Sidransky
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD 20892 3708, USA
    N Engl J Med 361:1651-61. 2009
    ..We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson's disease...
  4. ncbi request reprint Heterozygosity for a Mendelian disorder as a risk factor for complex disease
    E Sidransky
    Section on Molecular Neurogenetics, Clinical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892 3708, USA
    Clin Genet 70:275-82. 2006
    ..Insights gleaned from the study of Mendelian disorders may ultimately lead to a better understanding of factors influencing complex diseases...
  5. ncbi request reprint Therapy for Gaucher disease: don't stop thinking about tomorrow
    Ellen Sidransky
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Building 35, Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892, USA
    Mol Genet Metab 90:122-5. 2007
    ....
  6. pmc High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase
    Ehud Goldin
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e29861. 2012
    ..These results suggest that primary screening assays using enzyme extracted from tissues is an alternative approach to identify high quality, physiologically relevant lead compounds for drug development...
  7. pmc The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
    Ozlem Goker-Alpan
    Section on Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, 35 Convent Dr, MSC 3708, Bldg 35, Room 1A213, Bethesda, MD 20892 3708, USA
    Arch Neurol 65:1353-7. 2008
    ..Mutations in the glucocerebrosidase gene (GBA) result in Gaucher disease and can be associated with a phenotype characterized by adult-onset progressive neurologic deterioration and parkinsonism...
  8. ncbi request reprint Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup
    Joseph K Park
    Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
    Pediatr Res 53:387-95. 2003
    ..Thus, although there were certain shared mutant alleles found in these patients, both the lack of a shared genotype and the variability in clinical presentations suggest that other modifiers must contribute to this rare phenotype...
  9. pmc Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase
    Zhen Dan Shi
    Imaging Probe Development Center, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Anal Bioanal Chem 394:1903-9. 2009
    ..Therefore, this new red fluorogenic substrate and the resulting enzyme assay can be used in high-throughput screening to identify small-molecule chaperones for Fabry disease...
  10. 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
    ....
  11. pmc Saposin C protects glucocerebrosidase against α-synuclein inhibition
    Thai Leong Yap
    Laboratory of Molecular Biophysics, Biochemistry and Biophysics Center, National Heart, Lung, and Blood Institute, and Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, United States
    Biochemistry 52:7161-3. 2013
    ..Our results suggest that Sap C might play a crucial role in GD-related PD. ..
  12. pmc The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
    John DePaolo
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892 3708, USA
    Mov Disord 24:1571-8. 2009
    ....
  13. pmc Discovery of a novel noniminosugar acid α glucosidase chaperone series
    Jingbo Xiao
    NIH Chemical Genomics Center, NIH Center for Translational Therapeutics, National Center for Advancing Translational Sciences, National Institutes of Health, 9800 Medical Center Drive, Rockville, Maryland 20850, USA
    J Med Chem 55:7546-59. 2012
    ..AMDE and physical properties studies indicate that this series is a promising lead for further pharmacokinetic evaluation and testing in Pompe disease models...
  14. pmc Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases
    Thai Leong Yap
    Laboratory of Molecular Biophysics, National Heart Lung and Blood Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 286:28080-8. 2011
    ....
  15. pmc A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide
    Omid Motabar
    NIH Chemical Genomics Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3370, USA
    Anal Bioanal Chem 402:731-9. 2012
    ..The assay sensitivity and robustness is similar to those seen with other glucocerebrosidase fluorescence assays. Therefore, this new glucocerebrosidase assay is an alternative approach for high throughput screening...
  16. ncbi request reprint A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease
    Mary E LaMarca
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892 4405, USA
    J Hum Genet 49:220-2. 2004
    ..The polymorphism was also present on 4.6% of 152 control alleles, but could have functional consequences that have a modifying role in Gaucher disease...
  17. pmc Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
    Shira G Ziegler
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA
    Mol Genet Metab 91:195-200. 2007
    ..In this study, an open access Parkinson repository was used to establish the incidence of GBA alterations in a different ethnic cohort with sporadic Parkinson disease (PD)...
  18. pmc Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
    Jose Bras
    Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neurobiol Aging 30:1515-7. 2009
    ..These results, together with recent literature, clearly suggest a role of glucocerebrosidase in the development of Parkinson disease...
  19. 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...
  20. pmc Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening
    Daniel J Urban
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Comb Chem High Throughput Screen 11:817-24. 2008
    ..These two assays can be used to identify both GC activators and inhibitors with potential therapeutic value...
  21. pmc In silico and functional studies of the regulation of the glucocerebrosidase gene
    Yotam N Blech-Hermoni
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 99:275-82. 2010
    ..These identified conserved non-coding sequences flanking GBA could play a role in the transcriptional regulation of the gene contributing to the complexity underlying the phenotypic diversity seen in GD...
  22. pmc Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations
    Jae hyuk Choi
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 104:185-8. 2011
    ..Thus, brains from patients with GBA1-associated parkinsonism show biochemical characteristics typical of Lewy body disorders...
  23. pmc A mutation in SCARB2 is a modifier in Gaucher disease
    Arash Velayati
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892 3708, USA
    Hum Mutat 32:1232-8. 2011
    ..The study provides further evidence for the association of LIMP-2 and myoclonic epilepsy, explains the drastically different phenotypes encountered in the siblings, and demonstrates that LIMP-2 can serve as a modifier in GD...
  24. ncbi request reprint Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism
    Michael J Eblan
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA
    Neurosci Lett 404:163-5. 2006
    ..These findings suggest that GBA and LRRK2 mutations are discrete risk factors for parkinsonism in both Ashkenazi Jewish and non-Jewish subjects...
  25. pmc Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease
    Arash Velayati
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    J Mol Diagn 13:401-5. 2011
    ..This technique is more sensitive, faster, and cheaper than Southern blot analysis, and can be used in diagnostic laboratories, and to detect other recombinant alleles within the genome...
  26. ncbi request reprint Glucocerebrosidase mutations in subjects with parkinsonism
    Alicia Lwin
    Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD 20892 4405, USA
    Mol Genet Metab 81:70-3. 2004
    ..Our findings suggest that mutations in glucocerebrosidase may be a risk factor for the development of parkinsonism...
  27. pmc Exploring the link between glucocerebrosidase mutations and parkinsonism
    Wendy Westbroek
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Trends Mol Med 17:485-93. 2011
    ..Elucidation of the basis for this link will have important consequences for studying these diseases and should provide insights into lysosomal pathways and potential treatment strategies...
  28. ncbi request reprint Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease
    Ozlem Goker-Alpan
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
    J Pediatr 153:89-94. 2008
    ..To investigate the spectrum and prevalence of cognitive deficits among children with type 3 (chronic neuronopathic) Gaucher disease (GD)...
  29. pmc Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
    Nahid Tayebi
    Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 72:519-34. 2003
    ..These findings contribute to a better understanding of genotype-phenotype relationships in Gaucher disease and may provide insights into the mechanisms of DNA rearrangement in other disorders...
  30. pmc Glucocerebrosidase is shaking up the synucleinopathies
    Marina Siebert
    1 Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35 Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892 3708, USA
    Brain 137:1304-22. 2014
    ....
  31. pmc Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs
    Elma Aflaki
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, MD 20892, USA
    Sci Transl Med 6:240ra73. 2014
    ..Macrophages differentiated from patient monocytes or patient-derived iPSCs provide cellular models that can be used to investigate disease pathogenesis and facilitate drug development. ..
  32. pmc N4-phenyl modifications of N2-(2-hydroxyl)ethyl-6-(pyrrolidin-1-yl)-1,3,5-triazine-2,4-diamines enhance glucocerebrosidase inhibition by small molecules with potential as chemical chaperones for Gaucher disease
    Wenwei Huang
    NIH Chemical Genomics Center, National Human Genome Research Institute, NIH, 9800 Medical Center Drive, MSC 3370, Bethesda, MD 20892 3370, USA
    Bioorg Med Chem Lett 17:5783-9. 2007
    ..Synthesis, structure activity relationships and the selectivity of chosen analogues against related sugar hydrolases enzymes are described...
  33. pmc Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data
    Emerson Maniwang
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA
    Mol Genet Metab 108:269-71. 2013
    ..While LIMP-2 could still play a role in PD pathogenesis, this study does not provide evidence that the SNPs identified are in fact related to LIMP-2...
  34. ncbi request reprint Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3
    Ozlem Goker-Alpan
    Section on Molecular Neurogenetics, NIMH NIH, 49 Convent Drive, MSC 4405, Bethesda, MD 20892 4405, USA
    J Pediatr 143:273-6. 2003
    ..There was genotypic heterogeneity among these patients...
  35. pmc The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders
    Arash Velayati
    Section on Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, 35 Convent Drive, MSC 3708, Bethesda, MD 20892, USA
    Curr Neurol Neurosci Rep 10:190-8. 2010
    ....
  36. ncbi request reprint Gaucher disease: complexity in a "simple" disorder
    Ellen Sidransky
    Section on Molecular Neurogenetics, NIMH 35 Convent Drive MSC 3708, 1A 213, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 83:6-15. 2004
    ..Moreover, this research demonstrates how insights from rare, single gene disorders like Gaucher disease can provide a window into the etiology of more common, multifactorial genetic diseases...
  37. pmc Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders
    Ozlem Goker-Alpan
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Acta Neuropathol 120:641-9. 2010
    ..Unraveling the role of mutant glucocerebrosidase in the development of this pathology will further our understanding of the lysosomal pathways that likely contribute to the formation and/or clearance of these protein aggregates...
  38. ncbi request reprint Gaucher disease and parkinsonism: a phenotypic and genotypic characterization
    N Tayebi
    Clinical Neuroscience Branch, NIMH, 49 Convent Drive MSC405, 49/B1EE16, Bethesda, MD 20892-4405, USA
    Mol Genet Metab 73:313-21. 2001
    ..Gene alterations associated with this novel rearrangement, resulting from a crossover between the gene for metaxin and its pseudogene, could contribute to the atypical phenotype encountered in this patient...
  39. pmc Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity
    Thai Leong Yap
    Laboratory of Molecular Biophysics, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 108:56-64. 2013
    ..Importantly, the membrane-bound, α-helical form of α-synuclein is necessary for inhibition. This glucocerebrosidase interaction and inhibition likely contribute to the mechanism underlying GBA-associated parkinsonism...
  40. pmc A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders
    Hamid Saranjam
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892 3708, USA
    Eur J Hum Genet 21:115-7. 2013
    ..This first report of a germline mutation for a common point mutation leu444pro (c.1448 T>C;p.leu483pro) in GD has significant implications for molecular diagnostics and genetic counseling in recessive disorders...
  41. 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...
  42. doi request reprint Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
    Kathleen S Hruska
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 3708, USA
    Hum Mutat 29:567-83. 2008
    ..In this review we discuss the spectrum of GBA mutations and their distribution in the patient population, evolutionary conservation, clinical presentations, and how they may affect the structure and function of glucocerebrosidase...
  43. 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...
  44. ncbi request reprint Gaucher disease and parkinsonism
    Ellen Sidransky
    Section on Molecular Neurogenetics, Clinical Neuroscience Branch, NIMH, and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 84:302-4. 2005
  45. pmc A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies
    Michael A Nalls
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    JAMA Neurol 70:727-35. 2013
    ..While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether such mutations are also a common risk factor for other Lewy body disorders...
  46. pmc The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow
    Ozlem Goker-Alpan
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI Intramural Research Program, National Institutes of Health, Bethesda, MD 20892, USA
    Brain 135:2440-8. 2012
    ..These findings provide insight into the pathophysiology of GBA-associated parkinsonism...
  47. 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...
  48. 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...
  49. pmc False-positive results using a Gaucher diagnostic kit--RecTL and N370S
    Jae hyuk Choi
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Mol Genet Metab 100:100-2. 2010
    ..Using direct sequencing and real-time PCR, we show that the RecTL, N370S allele is a false positive result, demonstrating possible pitfalls of diagnostic kits...
  50. doi request reprint Autosomal recessive mutations in the development of Parkinson's disease
    Grisel Lopez
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892 3708, USA
    Biomark Med 4:713-21. 2010
    ..Elucidating the basis for this association may shed light on new disease mechanisms that contribute to the development of parkinsonism...
  51. doi request reprint Psychiatric and behavioral manifestations of lysosomal storage disorders
    Orna Staretz-Chacham
    Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Am J Med Genet B Neuropsychiatr Genet 153:1253-65. 2010
    ..Earlier diagnosis can enable the implementation of appropriate interventions and improve genetic counseling...
  52. ncbi request reprint Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum
    Michael J Eblan
    Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    Fetal Pediatr Pathol 24:205-22. 2005
    ..The incidence of severe perinatal Gaucher disease may prove more common than currently appreciated with greater physician awareness of the disorder...
  53. ncbi request reprint Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype
    Eduard Orvisky
    Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 76:262-70. 2002
    ..The elevated levels found in brains from patients with neuronopathic Gaucher disease support the hypothesis that glucosylsphingosine may contribute to the nervous system involvement in these patients...
  54. ncbi request reprint Support for association between ADHD and two candidate genes: NET1 and DRD1
    Aaron J Bobb
    Child Psychiatry Branch, NIMH, NIH, Bethesda, Maryland 20892 1600, USA
    Am J Med Genet B Neuropsychiatr Genet 134:67-72. 2005
    ..Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD...
  55. 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...
  56. ncbi request reprint The E326K mutation and Gaucher disease: mutation or polymorphism?
    J K Park
    Section on Molecular Neurogenetics, National Institute of Mental Health, NIH, Bethesda, MD 20892, USA
    Clin Genet 61:32-4. 2002
    ..Because the E326K mutation may be a polymorphism, we caution that a careful examination of any allele with this mutation should be performed to check for the presence of other glucocerebrosidase mutations...
  57. ncbi request reprint Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21
    W L Yan
    Child Psychiatry, National Institute of Mental Health, Bethesda, Maryland 20892 4405, USA
    Am J Med Genet 96:749-53. 2000
    ..Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749-753, 2000. Published 2000 Wiley-Liss, Inc...
  58. ncbi request reprint Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses
    F X Castellanos
    Child Psychiatry Branch, National Institute of Mental Health, Bethesda, MD 20892 1600, USA
    Mol Psychiatry 3:431-4. 1998
    ..These data do not support the reported association between DRD4*7R and the behavioral or brain morphometric phenotype associated with ADHD...
  59. ncbi request reprint Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired"
    W Yan
    Child Psychiatry Branch, National Institute of Mental Health, Bethesda, Maryland 20892 4405, USA
    Am J Med Genet 81:41-3. 1998
    ..Fluorescent in situ hybridization screening of 32 COS and 21 multidimensionally impaired patients revealed 1 COS patient with an interstitial deletion spanning at least 2.5 megabases...
  60. pmc Fabry disease - current treatment and new drug development
    Omid Motabar
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3708, Bethesda, MD 20894 3708, USA
    Curr Chem Genomics 4:50-6. 2010
    ..This review outlines the current therapeutic approaches, emerging treatment strategies, and the process of drug discovery and development for Fabry disease...
  61. pmc Lysosomal storage disorders in the newborn
    Orna Staretz-Chacham
    Office of the Clinical Director, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Dr, MSC 3708, Bethesda, MD 20892 3708, USA
    Pediatrics 123:1191-207. 2009
    ..Implementing therapy at the earliest stage possible is crucial for several of the lysosomal storage disorders; hence, an early appreciation of these disorders by physicians who treat newborns is essential...
  62. ncbi request reprint Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
    D L Stone
    Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892 4405, USA
    Hum Mutat 15:181-8. 2000
    ..Hum Mutat 15:181-188, 2000. Published 2000 Wiley-Liss, Inc...
  63. ncbi request reprint Type 2 gaucher disease: an expanding phenotype
    N Tayebi
    Clinical Neuroscience Branch, NIMH, National Institutes of Health, Bethesda, Maryland, 20892 4405, USA
    Mol Genet Metab 68:209-19. 1999
  64. ncbi request reprint The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease
    E Orvisky
    Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA
    Hum Mutat 19:458-9. 2002
    ..Five of the novel mutations were found in patients with neuronopathic forms of Gaucher disease, two of which, K198E and F251L, appear to be associated with type 2 Gaucher disease...
  65. ncbi request reprint Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
    N Tayebi
    Section on Molecular Neurogenetics, NIMH, NHGRI, NIH, 49 Convent Drive MSC4405, 49 B1EE16, Bethesda, MD 20892 4405, USA
    Mol Genet Metab 79:104-9. 2003
    ..The shared clinical and neuropathologic findings in this subgroup suggest that the deficiency in glucocerebrosidase may contribute to a vulnerability to parkinsonism...
  66. pmc Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease
    Ian M Oppenheim
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892 3708, USA
    Skeletal Radiol 40:1611-5. 2011
    ..These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expand the extent of phenotypic variation encountered in this single gene disorder...
  67. ncbi request reprint Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease
    J K Park
    Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet 99:147-51. 2001
    ..Published 2001 Wiley-Liss, Inc...
  68. ncbi request reprint Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
    O Goker-Alpan
    Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892 3708, USA
    Neurology 67:908-10. 2006
    ..Mutations in this lysosomal protein may interfere with the clearance or promote aggregation of alpha-synuclein...
  69. ncbi request reprint Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
    D L Stone
    Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892 4405, USA
    Eur J Hum Genet 7:505-9. 1999
    ..The actual incidence of lethal type 2 Gaucher disease may be underestimated, as many cases may have been misclassified as collodion babies or hydrops of unknown cause...
  70. pmc Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease
    S L Winfield
    Clinical Neuroscience Branch, Intramural Research Program IRP, National Institute of Mental Health, Bethesda, Maryland 20892, USA
    Genome Res 7:1020-6. 1997
    ..Finally, cote1, a gene of unknown function lies most proximal to GBA. The possible contributions of these closely arrayed genes to the more atypical presentations of Gaucher disease is now under investigation...
  71. ncbi request reprint Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation
    E Orvisky
    Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Marvland 20892 4405, USA
    Pediatr Res 48:233-7. 2000
    ..These findings suggest that the accumulation of Glc-sph may be responsible for the rapid demise of mice with type 2 Gaucher disease and the devastating clinical course seen in patients with type 2 Gaucher disease...
  72. doi request reprint Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3
    W S Benko
    Metabolic Neurology Branch, NINDS, National Institutes of Health, Bethesda, MD, USA
    Neurology 70:976-8. 2008
  73. pmc Lysosomal integral membrane protein-2: a new player in lysosome-related pathology
    Ashley Gonzalez
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA
    Mol Genet Metab 111:84-91. 2014
    ....
  74. ncbi request reprint Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection
    E Orvisky
    Clinical Neuroscience Branch, NIMH, National Institutes of Health, Bethesda, MD, USA
    Anal Biochem 317:12-8. 2003
    ....
  75. ncbi request reprint The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    Michael J Eblan
    N Engl J Med 352:728-31; author reply 728-31. 2005
  76. ncbi request reprint Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela
    Michael J Eblan
    Mov Disord 21:282-3. 2006
  77. pmc Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders
    Ignacio F Mata
    Department of Neurology, University of Washington School of Medicine, Seattle, USA
    Arch Neurol 65:379-82. 2008
    ..However, these findings have not been consistently replicated, and most studies have had substantial methodological shortcomings...
  78. ncbi request reprint Gaucher disease associated with parkinsonism: four further case reports
    Judit Varkonyi
    3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary
    Am J Med Genet A 116:348-51. 2003
    ..The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology...
  79. pmc The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease
    Usha Gutti
    Arch Neurol 65:850-1; author reply 851. 2008
  80. ncbi request reprint Gaucher mutation N188S is associated with myoclonic epilepsy
    Laurence Kowarz
    Hum Mutat 26:271-3; author reply 274-5. 2005
    ..quot; Our clinical experience with patients carrying this mutation and preliminary protein modeling data lead us to dispute this conclusion...
  81. ncbi request reprint Neuropathology provides clues to the pathophysiology of Gaucher disease
    Kondi Wong
    Department of Neuropathology at the Armed Forces Institute of Pathology, Washington, DC, USA
    Mol Genet Metab 82:192-207. 2004
    ..These findings argue for a common cytotoxic mechanism linking aberrant glucocerebrosidase activity, neuronal cytotoxicity, and cytotoxic Lewy body formation in GD...
  82. ncbi request reprint Treating patients with Gaucher disease and parkinsonism: misrepresentation in a title
    Ozlem Goker-Alpan
    Parkinsonism Relat Disord 14:81-2; author reply 83. 2008
  83. ncbi request reprint Enhanced calcium release in the acute neuronopathic form of Gaucher disease
    Dori Pelled
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Neurobiol Dis 18:83-8. 2005
    ..These findings suggest that defective calcium homeostasis may be a mechanism responsible for neuropathophysiology in acute neuronopathic Gaucher disease, and may potentially offer new therapeutic approaches for disease management...
  84. ncbi request reprint Cholelithiasis in patients with Gaucher disease
    Hanna Rosenbaum
    Department of Hematology, Rambam Medical Center and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel
    Blood Cells Mol Dis 28:21-7. 2002
    ..Sixteen of these patients (5 male, 11 female) were also noted to have gallstones. Thus, the frequency of gallbladder involvement in patients with Gaucher disease appears to be greater than previously appreciated...