Associated Papers
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Eichler F et al.
Nature Medicine, 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
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Treating late-onset Tay Sachs disease: Brain delivery with a dual trojan horse protein.
Osher E et al.
Molecular Therapy. Methods & Clinical Development, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α.
Raha S et al.
Cells, 2023
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Ibrahim DMA et al.
Orphanet Journal of Rare Diseases, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Park JH et al.
Molecular Genetics & Genomic Medicine, 2021
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
Role of induced pluripotent stem cells in lysosomal storage diseases.
Kido J et al.
Molecular and Cellular Neurosciences, 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
Modeling neuronopathic storage diseases with patient-derived culture systems.
Zunke F et al.
Neurobiology of Disease, 2019
Patient-Derived Phenotypic High-Throughput Assay to Identify Small Molecules Restoring Lysosomal Function in Tay-Sachs Disease.
Colussi DJ et al.
Slas Discovery : Advancing Life Sciences R & D, 2019
Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient.
Liu Z et al.
Stem Cell Research, 2016
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
Tay-Sachs disease: current perspectives from Australia.
Lew RM et al.
The Application of Clinical Genetics, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.
Hallam S et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Three novel mutations in Iranian patients with Tay-Sachs disease.
Jamali S et al.
Iranian Biomedical Journal, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
Sheth J et al.
Molecular Genetics and Metabolism Reports, 2014
High-throughput carrier screening using TaqMan allelic discrimination.
Fedick A et al.
Plos One, 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
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Mistri M et al.
Plos One, 2012
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
Nakagawa S et al.
Jimd Reports, 2012
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
Haghighi A et al.
Molecular Genetics and Metabolism, 2011
Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.
Lew R et al.
Journal of Community Genetics, 2011
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
Haghighi A et al.
Journal of Human Genetics, 2011
The single cell as a tool for genetic testing: credibility, precision, implication.
Dotan K et al.
Journal of Assisted Reproduction and Genetics, 2010
Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.
Levit A et al.
Molecular Genetics and Metabolism, 2010
Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C et al.
Biochemical and Biophysical Research Communications, 2010
Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.
Altarescu G et al.
Reproductive Biomedicine Online, 2007
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
Vallance H et al.
Molecular Genetics and Metabolism, 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
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.
Wicklow BA et al.
American Journal of Medical Genetics. Part A, 2004
[A molecular genetic overview of familial dementing disorders].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Tay-Sachs disease in Brazilian patients: prevalence of the IVS7+1g>c mutation.
Rozenberg R et al.
Journal of Inherited Metabolic Disease, 2004
Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease.
Stockley TL et al.
Methods in Molecular Biology (clifton, N.j.), 2003