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Article

Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease.

Cellular and molecular life sciences : CMLS - 1 Jan 2021

Romano Roberta, Rivellini Cristina, De Luca Maria, Tonlorenzi Rossana, Beli Raffaella, Manganelli Fiore, Nolano Maria, Santoro Lucio, Eskelinen Eeva-Liisa, Previtali Stefano C, Bucci Cecilia

Abstract excerpt

The small GTPase RAB7A regulates late stages of the endocytic pathway and plays specific roles in neurons, controlling neurotrophins trafficking and signaling, neurite outgrowth and neuronal migration. Mutations in the RAB7A gene cause the autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) disease, an axonal peripheral neuropathy. As several neurodegenerative diseases are caused by alterations of endocytosis,...

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Identifiers

PMID: 32280996
DOI: 10.1007/s00018-020-03510-1
PMCID: PMC7867545

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