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Article

Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1.

PloS one - 1 Jan 2013

Spooner Ellen, McLaughlin Brooke M, Lepow Talya, Durns Tyler A, Randall Justin, Upchurch Cameron, Miller Katherine, Campbell Erin M, Fares Hanna

Abstract excerpt

Mucolipidosis type IV is a lysosomal storage disorder resulting from mutations in the MCOLN1 gene, which encodes the endosomal/lysosomal Transient Receptor Potential channel protein mucolipin-1/TRPML1. Cells isolated from Mucolipidosis type IV patients and grown in vitro and in in vivo models of this disease both show several lysosome-associated defects. However, it is still unclear how TRPML1 regulates the...

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Source

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Identifiers

PMID: 23418601
DOI: 10.1371/journal.pone.0056780
PMCID: PMC3572064

Genes

MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1.PMID 23418601Read ↗

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Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants.Semantic proximity Read ↗

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