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Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.
Neurol Genet
December 2024
From the School of Medicine (A.R.T., J.R.), The University of Queensland; Department of Neurology (W.R., P.A.M., R.D.H., L.V.), Royal Brisbane & Women's Hospital; The University of Queensland (P.A.M., R.D.H., L.V.), UQ Centre for Clinical Research; and Genetic Health Queensland (J.R.), Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.
Tay-Sachs disease is a neurodegenerative disorder characterized by progressive neurologic impairment due to pathogenic variants in the gene that codes for the alpha subunit of β-hexosaminidase. We report 2 cases of adult-onset progressive weakness, ataxia, and neuropsychiatric symptoms in a 30-year-old man and 37-year-old woman. Both patients had compound heterozygosity in the gene with 4 distinct variants.
View Article and Find Full Text PDFClinical and biochemical abnormalities in a feline model of GM2 activator deficiency.
Mol Genet Metab
January 2025
Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, AL 36849, United States of America; Department of Anatomy, Physiology & Pharmacology, College of Veterinary Medicine, Auburn University, AL 36849, United States of America. Electronic address:
Though it has no catalytic activity toward GM2 ganglioside, the GM2 activator protein (GM2A) is essential for ganglioside hydrolysis by facilitating the action of lysosomal ß-N-acetylhexosaminidase. GM2A deficiency results in death in early childhood due to rapid central nervous system deterioration similar to the related GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease. This manuscript further characterizes a feline model of GM2A deficiency with a focus on clinical and biochemical parameters that may be useful as benchmarks for translational therapeutic research.
View Article and Find Full Text PDFSimultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease.
Hum Genome Var
November 2024
Center for Promoting Treatment of Intractable Disease, ISEIKAI International General Hospital, Osaka, Japan.
Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.
View Article and Find Full Text PDFAbnormally accumulated GM2 ganglioside contributes to skeletal deformity in Tay-Sachs mice.
J Mol Med (Berl)
December 2024
Izmir Institute of Technology, IYTEDEHAM, Urla, Izmir, Turkey.
Tay-Sachs Disease is a rare lysosomal storage disorder caused by mutations in the HEXA gene, responsible for the degradation of ganglioside GM2. In addition to progressive neurodegeneration, Tay-Sachs patients display bone anomalies, including kyphosis. Tay-Sachs disease mouse model (Hexa-/-Neu3-/-) shows both neuropathological and clinical abnormalities of the infantile-onset disease phenotype.
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