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Article

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Human mutation - 1 Apr 2005

Saifi Gulam Mustafa, Szigeti Kinga, Wiszniewski Wojciech, Shy Michael E, Krajewski Karen, Hausmanowa-Petrusewicz Irena, Kochanski Andrzej, Reeser Suzanne, Mancias Pedro, Butler Ian, Lupski James R

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral neuropathies characterized by progressive weakness and atrophy of distal limb muscles. Recently, SIMPLE/LITAF was shown to be responsible for an autosomal dominant demyelinating form of CMT linked to 16p (CMT1C). Although two transcripts encoding different proteins (SIMPLE and LITAF) have been reported...

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Source

Identifiers

PMID: 15776429
DOI: 10.1002/humu.20153

Genes

LITAF
NEDD4
PSAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.PMID 15776429Read ↗

Mutations associated with Charcot–Marie–Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome–autophagy pathwaysSemantic proximity Read ↗

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