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Article

Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

Human molecular genetics - 15 Mar 2004

Raychowdhury Malay K, González-Perrett Silvia, Montalbetti Nicolás, Timpanaro Gustavo A, Chasan Bernard, Goldmann Wolfgang H, Stahl Stefanie, Cooney Adele, Goldin Ehud, Cantiello Horacio F

Abstract excerpt

Mucolipidosis type IV (MLIV) is an autosomal recessive neurogenetic disorder characterized by developmental abnormalities of the brain and impaired neurological, ophthalmologic and gastric function. Large vacuoles accumulate in various types of cells in MLIV patients. However, the pathophysiology...

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Identifiers

PMID: 14749347
DOI: 10.1093/hmg/ddh067

Genes

MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14749347-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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