Article

<i>MCOLN1</i> gene-replacement therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV

2020-12-07

Abstract excerpt

Mucolipidosis IV (MLIV, OMIM 252650) is an orphan disease leading to debilitating psychomotor deficits and vision loss. It is caused by loss-of-function mutations in the MCOLN1 gene that encodes thethe lysosomal transient receptor potential channel mucolipin 1 (TRPML1). With no existing therapy, the unmet need in this disease is very high. Here we show that AAV-mediated gene transfer of the human MCOLN1 gene res...

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Literature Corpus work: e2ad1122-872d-55c6-b10c-30d980a43559
DOI: 10.1101/2020.12.06.413740

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