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Article

Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B.

Autophagy - 1 Jan 2018

Colecchia David, Stasi Mariangela, Leonardi Margherita, Manganelli Fiore, Nolano Maria, Veneziani Bianca Maria, Santoro Lucio, Eskelinen Eeva-Liisa, Chiariello Mario, Bucci Cecilia

Abstract excerpt

Charcot-Marie-Tooth type 2B (CMT2B) disease is a dominant axonal peripheral neuropathy caused by 5 mutations in the RAB7A gene, a ubiquitously expressed GTPase controlling late endocytic trafficking. In neurons, RAB7A also controls neuronal-specific processes such as NTF (neurotrophin) trafficking and signaling, neurite outgrowth and neuronal migration. Given the involvement of macroautophagy/autophagy in several...

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Identifiers

PMID: 29130394
DOI: 10.1080/15548627.2017.1388475
PMCID: PMC6103410

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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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