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Genomes and Genes | Ellen SidranskySummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Gaucher disease: insights from a rare Mendelian disorderEllen 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...
The link between the GBA gene and parkinsonismEllen Sidransky
Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA Electronic address
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...
Multicenter analysis of glucocerebrosidase mutations in Parkinson's diseaseE 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...- Therapy for Gaucher disease: don't stop thinking about tomorrowEllen 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.... - Heterozygosity for a Mendelian disorder as a risk factor for complex diseaseE 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... - High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidaseEhud 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... - The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutationsOzlem 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... - Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroupJoseph 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... - Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidaseZhen 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... - Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activityJuan 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.... - The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonismJohn DePaolo
Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892 3708, USA
Mov Disord 24:1571-8. 2009.... - Discovery of a novel noniminosugar acid α glucosidase chaperone seriesJingbo 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... - Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseasesThai 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.... - A high throughput glucocerebrosidase assay using the natural substrate glucosylceramideOmid 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... - Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson diseaseShira 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)... - Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activatorsJuan 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... - Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screeningDaniel 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... - In silico and functional studies of the regulation of the glucocerebrosidase geneYotam 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... - A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher diseaseMary 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... - Complete screening for glucocerebrosidase mutations in Parkinson disease patients from PortugalJose 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... - Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutationsJae 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... - A mutation in SCARB2 is a modifier in Gaucher diseaseArash 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... - Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonismMichael 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... - Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher diseaseArash 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... - Glucocerebrosidase mutations in subjects with parkinsonismAlicia 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... - Exploring the link between glucocerebrosidase mutations and parkinsonismWendy 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... - Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher diseaseNahid 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... - Cognitive outcome in treated patients with chronic neuronopathic Gaucher diseaseOzlem 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)... - Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3Ozlem 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... - Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disordersOzlem 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... - The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disordersArash 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.... - Gaucher disease: complexity in a "simple" disorderEllen 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... - Gaucher disease and parkinsonism: a phenotypic and genotypic characterizationN 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... - 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... - A new resorufin-based alpha-glucosidase assay for high-throughput screeningOmid 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... - Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher diseaseWei 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... - Gaucher disease and parkinsonismEllen 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 - 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 diseaseWenwei 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... - The role of saposin C in Gaucher diseaseRafael 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... - The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flowOzlem 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... - Mucolipidosis type IV: an updateKazuyo 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... - Psychiatric and behavioral manifestations of lysosomal storage disordersOrna 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... - Support for association between ADHD and two candidate genes: NET1 and DRD1Aaron 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... - False-positive results using a Gaucher diagnostic kit--RecTL and N370SJae 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... - Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuumMichael 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... - Autosomal recessive mutations in the development of Parkinson's diseaseGrisel 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... - Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotypeEduard 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... - 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... - Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21W 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... - Parkinsonism among Gaucher disease carriersO 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... - Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analysesF 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... - 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..quot; 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... - Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activityThai 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... - Lysosomal storage disorders in the newbornOrna 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... - Fabry disease - current treatment and new drug developmentOmid 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... - 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... - The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher diseaseE 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... - Type 2 gaucher disease: an expanding phenotypeN Tayebi
Clinical Neuroscience Branch, NIMH, National Institutes of Health, Bethesda, Maryland, 20892-4405, USA
Mol Genet Metab 68:209-19. 1999 - Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseD 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... - Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association dataEmerson 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... - A germline or de novo mutation in two families with Gaucher disease: implications for recessive disordersHamid 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... - Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher diseaseIan 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... - Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestationE 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... - Glucocerebrosidase mutations are an important risk factor for Lewy body disordersO 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... - Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher diseaseS 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... - Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3W S Benko
Metabolic Neurology Branch, NINDS, National Institutes of Health, Bethesda, MD, USA
Neurology 70:976-8. 2008 - 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... - Glucocerebrosidase mutations among African-American patients with type 1 Gaucher diseaseJ 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... - 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 detectionE Orvisky
Clinical Neuroscience Branch, NIMH, National Institutes of Health, Bethesda, MD, USA
Anal Biochem 317:12-8. 2003.... - Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from VenezuelaMichael J Eblan
Mov Disord 21:282-3. 2006 - Gaucher disease associated with parkinsonism: four further case reportsJudit 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... - Glucocerebrosidase gene mutations: a risk factor for Lewy body disordersIgnacio 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... - The glucocerebrosidase gene and Parkinson's disease in Ashkenazi JewsMichael J Eblan
N Engl J Med 352:728-31; author reply 728-31. 2005 - The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson diseaseUsha Gutti
Arch Neurol 65:850-1; author reply 851. 2008 - Treating patients with Gaucher disease and parkinsonism: misrepresentation in a titleOzlem Goker-Alpan
Parkinsonism Relat Disord 14:81-2; author reply 83. 2008 - Gaucher mutation N188S is associated with myoclonic epilepsyLaurence 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... - Enhanced calcium release in the acute neuronopathic form of Gaucher diseaseDori 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... - Neuropathology provides clues to the pathophysiology of Gaucher diseaseKondi 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... - Cholelithiasis in patients with Gaucher diseaseHanna 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...