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Article

A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.

Nature communications - 14 Aug 2014

Chen Cheng-Chang, Keller Marco, Hess Martin, Schiffmann Raphael, Urban Nicole, Wolfgardt Annette, Schaefer Michael, Bracher Franz, Biel Martin, Wahl-Schott Christian, Grimm Christian

Abstract excerpt

Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder often characterized by severe neurodevelopmental abnormalities and neuro-retinal degeneration. Mutations in the TRPML1 gene are causative for MLIV. We used lead optimization strategies to identify--and MLIV patient fibroblasts to test--small-molecule activators for their potential to restore TRPML1 mutant channel function. Using the...

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Identifiers

PMID: 25119295
DOI: 10.1038/ncomms5681

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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