Associated Papers
Pyrimethamine-based targeting of HEXA gene mutations in Tay-Sachs disease: a computational analysis.
Ranjani S et al.
Journal of Biomolecular Structure & Dynamics, 2026
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Eichler F et al.
Nature Medicine, 2025
Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.
Riboldi GM et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
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
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
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
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
Ohno K et al.
Molecular Genetics and Metabolism, 2008
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
Martin DC et al.
Clinical 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
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
Neudorfer O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Late-onset Tay-Sachs disease.
Neudorfer O et al.
The Israel Medical Association Journal : Imaj, 2004
Biochemical consequences of mutations causing the GM2 gangliosidoses.
Mahuran DJ
Biochimica Et Biophysica Acta, 1999
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
Petroulakis E et al.
Human Mutation, 1998
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.
Tews I et al.
Nature Structural Biology, 1996
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
Sheth J et al.
Annals of Indian Academy of Neurology, 0