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Article

Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.

Human molecular genetics - 15 Mar 2010

McCray Brett A, Skordalakes Emmanuel, Taylor J Paul

Abstract excerpt

Rab GTPases are molecular switches that orchestrate vesicular trafficking, maturation and fusion by cycling between an active, GTP-bound form, and an inactive, GDP-bound form. The activity cycle is coupled to GTP hydrolysis and is tightly controlled by regulatory proteins. Missense mutations of the GTPase Rab7 cause a dominantly inherited axonal degeneration known as Charcot-Marie-Tooth type 2B through an unknown...

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Identifiers

PMID: 20028791
DOI: 10.1093/hmg/ddp567
PMCID: PMC2830827

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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