Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis [PDF]
International Journal of Molecular Sciences, 2023 GM2 gangliosidoses are a group of neurodegenerative lysosomal storage disorders that are characterized by the accumulation of GM2 gangliosides (GM2), leading to rapid neurological decline and death.
Steven J Gray +2 more
exaly +3 more sources
Molecular Genetics and Metabolism Reports, 2017 GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP).
Carla Martins +6 more
doaj +2 more sources
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients [PDF]
Molecular Genetics and Metabolism Reports, 2022 GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly ...
Richard W.D. Welford +10 more
doaj +3 more sources
L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation [PDF]
Cells, 2021 Aims: Tay–Sachs and Sandhoff diseases (GM2 gangliosidosis) are autosomal recessive disorders of lysosomal function that cause progressive neurodegeneration in infants and young children. Impaired hydrolysis catalysed by β-hexosaminidase A (HexA) leads to
Beatriz Castejón-Vega +11 more
doaj +3 more sources
An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis [PDF]
Human GenomicsBackground Consanguinity provides shortcuts to identify homozygous recessive mutations. However, deep-intronic variants escape standard sequencing (panel; exome/WES), and their pathogenicity cannot be inferred from genomic data. We applied WES, long-read
Angelika Bolte +8 more
doaj +2 more sources
Pediatric Neurology Briefs, 2006 Clinical features and genetic correlations of 21 new case histories and 134 published case reports of juvenile or subacute GM2 gangliosidosis were analyzed to delineate the natural history of the disorder, in a study at the Hospital for Sick Children ...
J Gordon Millichap
doaj +2 more sources
AAV-based gene therapy with modified HEXB confers lasting therapeutic benefits in GM2 gangliosidosis models [PDF]
Cell Reports MedicineSummary: GM2 gangliosidoses, including Tay-Sachs (TSD) and Sandhoff (SD) diseases, are lysosomal storage disorders with neurological manifestations caused by the excessive accumulation of GM2 ganglioside due to the deficiency of the β-hexosaminidase A ...
Keisuke Kitakaze +11 more
doaj +2 more sources
Biochemical characterization of the GM2 gangliosidosis B1 variant [PDF]
Brazilian Journal of Medical and Biological Research, 2004 The deficiency of the A isoenzyme of ß-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of the absence of Hex A ...
J.C. Tutor
doaj +5 more sources
Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review [PDF]
Annals of Clinical and Translational NeurologyObjective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies
Neha P. Godbole +7 more
doaj +2 more sources
Molecular Genetics and Metabolism Reports, 2014 An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement.
Mauro Scarpelli +3 more
doaj +2 more sources