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Article

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.

Disease models & mechanisms - 1 May 2013

Bogdanik Laurent P, Sleigh James N, Tian Cong, Samuels Mark E, Bedard Karen, Seburn Kevin L, Burgess Robert W

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous condition characterized by peripheral axon degeneration with subsequent motor and sensory deficits. Several CMT gene products function in endosomal sorting and trafficking to the lysosome, suggesting that defects in this cellular pathway might present a common pathogenic mechanism for these conditions. LRSAM1 is an E3 ubiquitin ligase...

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Identifiers

PMID: 23519028
DOI: 10.1242/dmm.010942
PMCID: PMC3634660

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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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