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Adipose deficiency and aberrant autophagy in a <i>Drosophila</i> model of MPS VII is corrected by pharmacological stimulators of mTOR

2021-09-05

Abstract excerpt

Mucopolysaccharidosis type VII (MPS VII) is a recessively inherited lysosomal storage disorder caused due to β-glucuronidase (β-GUS) enzyme deficiency. Prominent clinical symptoms include hydrops fetalis, musculoskeletal deformities, neurodegeneration and hepatosplenomegaly leading to premature death in most cases. Apart from these, MPS VII is also characterized as adipose storage deficiency disorder although the...

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Literature Corpus work
c411ffdd-de09-5f54-893b-22300416abbd
DOI
10.1101/2021.09.05.459029
Open publication

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