Article

L-arginine ameliorates defective autophagy in GM2 gangliosidoses by mTOR modulation

2021-05-29

Abstract excerpt

Tay-Sachs and Sandhoff diseases (GM2 gangliosidosis) are autosomal recessive disorders of lysosomal function that cause fatal and progressive neurodegeneration in infants and young children. Impaired hydrolysis catalysed by β-hexosaminidase A (HexA) leads to the accumulation of its specific substrate, GM2 ganglioside, in neuronal lysosomes. Despite the development of a florid storage phenotype, the role of autopha...

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Literature Corpus work: 0d6bd836-79c1-5ef4-9720-99cb3367af31
DOI: 10.1101/2021.05.28.446132

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