Article

Inflammation and autophagy dysfunction in metachromatic leukodystrophy: a central role for mTOR?

2023-09-14

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder typically resulting from biallelic loss-of-function variants in the ARSA gene which encodes the lysosomal enzyme, arylsulphatase A, leading to the accumulation of its substrate, sulphatide, and widespread demyelination. Although gene therapy is available for MLD, it is limited by high cost and a narrow window for intervention, which means the deve...

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Literature Corpus work: 3fb284af-6856-5e70-a987-8210d64ba30f
DOI: 10.1101/2023.09.14.557720

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