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, 2007 The gangliosidoses are a group of lysosomal storage diseases characterized by the accumulation of these complex glycolipids in multiple organs of the body. They manifest a predominantly neurological phenotype, a fact that is probably related to their high prevalence in nervous tissues. The typical presentation is that of a progressive neurodegenerative
Gustavo Charria-Ortiz +1 more
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CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors
International Journal of Molecular Sciences, 2022 The gangliosidoses GM2 are a group of pathologies mainly affecting the central nervous system due to the impaired GM2 ganglioside degradation inside the lysosome. Under physiological conditions, GM2 ganglioside is catabolized by the β-hexosaminidase
Andres Felipe Leal +2 more
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GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies
International Journal of Molecular Sciences, 2020 GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the β-hexosaminidases subunits or the GM2 activator protein.
Andres Felipe Leal +2 more
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, 2010 The GM2 gangliosidoses represent a heterogeneous group of lysosomal storage diseases characterised by the deposition of GM2 ganglioside and related glycolipids. They are inherited in an autosomal recessive manner. The basis for the various forms of GM2 gangliosidoses lies in the multifaceted catabolism of GM2 ganglioside, which requires complex ...
Margit Pavelka, Jürgen Roth
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Serial 1H-MRS in GM2 gangliosidoses
European Journal of Pediatrics, 2007GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. Clinically, the disease is marked by a relentless encephalopathy. Proton magnetic resonance spectroscopy (1H-MRS) provides in-vivo measurement of various brain metabolites including N-acetyl aspartate+N-acetyl aspartate glutamate (
Christopher Janson
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