Associated Papers
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Eichler F et al.
Nature Medicine, 2025
Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis).
Fernández-Eulate G et al.
Stem Cell Research, 2025
Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.
Lewis CJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.
Mansouri V et al.
European Journal of Neurology, 2023
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne J et al.
Molecular Genetics and Metabolism Reports, 2021
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
Castejón-Vega B et al.
Cells, 2021
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.
Almanasra A et al.
Proteins, 2021
Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.
Nejabat M et al.
Frontiers in Pediatrics, 2021
The juvenile gangliosidoses: A timeline of clinical change.
King KE et al.
Molecular Genetics and Metabolism Reports, 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue M et al.
Annals of Neurology, 2020
In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay-Sachs disease.
Ihsan Fazal M et al.
Journal of Genetics, 2020
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Mistri M et al.
Journal of Human Genetics, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC et al.
Molecular Genetics & Genomic Medicine, 2019
Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
Duarte AJ et al.
Archives of Medical Research, 2017
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder.
Barone R et al.
Autism Research : Official Journal of the International Society for Autism Research, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.
Hoffman JD et al.
Molecular Genetics & Genomic Medicine, 2013
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L et al.
Gene, 2012
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
Zampieri S et al.
Gene, 2012
A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.
Fitterer BB et al.
Genetic Testing and Molecular Biomarkers, 2012
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
Kaya N et al.
American Journal of Medical Genetics. Part A, 2011
Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene.
Ribeiro D et al.
Genetic Testing and Molecular Biomarkers, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C et al.
Biochemical and Biophysical Research Communications, 2010
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
Ohno K et al.
Molecular Genetics and Metabolism, 2008
Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells.
Tropak MB et al.
The Febs Journal, 2007
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Maegawa GH et al.
The Journal of Biological Chemistry, 2007
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
Maegawa GH et al.
Pediatrics, 2006
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Montalvo AL et al.
Human Mutation, 2005
Biochemical characterization of the GM2 gangliosidosis B1 variant.
Tutor JC
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2004
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.
Karpati M et al.
Neurogenetics, 2004
Prevalence of lysosomal storage diseases in Portugal.
Pinto R et al.
European Journal of Human Genetics : Ejhg, 2004
Tay-Sachs disease in Brazilian patients: prevalence of the IVS7+1g>c mutation.
Rozenberg R et al.
Journal of Inherited Metabolic Disease, 2004
Thermodynamic determination of plasma and leukocyte beta-hexosaminidase isoenzymes in homozygote and heterozygote carriers for the GM2 gangliosidosis B1 variant.
Casal JA et al.
American Journal of Clinical Pathology, 2003
Crystallographic evidence for substrate-assisted catalysis in a bacterial beta-hexosaminidase.
Mark BL et al.
The Journal of Biological Chemistry, 2001
Biochemical consequences of mutations causing the GM2 gangliosidoses.
Mahuran DJ
Biochimica Et Biophysica Acta, 1999
Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant.
Pérez LF et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 1999
Tay-Sachs disease carrier screening: a model for prevention of genetic disease.
Kaplan F
Genetic Testing, 1998
Identification of candidate active site residues in lysosomal beta-hexosaminidase A.
Fernandes MJ et al.
The Journal of Biological Chemistry, 1997
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Human Mutation, 1997
Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.
Gil Ribeiro M et al.
Human Mutation, 1997