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Article

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.

International journal of molecular sciences - 15 Oct 2020

Antona Vincenzo, Scalia Federica, Giorgio Elisa, Radio Francesca C, Brusco Alfredo, Oliveri Massimiliano, Corsello Giovanni, Lo Celso Fabrizio, Vadalà Maria, Conway de Macario Everly, Macario Alberto J L, Cappello Francesco, Giuffrè Mario

Abstract excerpt

Diseases associated with acquired or genetic defects in members of the chaperoning system (CS) are increasingly found and have been collectively termed chaperonopathies. Illustrative instances of genetic chaperonopathies involve the genes for chaperonins of Groups I (e.g., Heat shock protein 60, Hsp60) and II (e.g., Chaperonin Containing T-Complex polypeptide 1, CCT). Examples of the former are hypomyelinating...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33076433
DOI: 10.3390/ijms21207631
PMCID: PMC7589105

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