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Article

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.

American journal of human genetics - 1 May 2009

Di Fonzo Alessio, Ronchi Dario, Lodi Tiziana, Fassone Elisa, Tigano Marco, Lamperti Costanza, Corti Stefania, Bordoni Andreina, Fortunato Francesco, Nizzardo Monica, Napoli Laura, Donadoni Chiara, Salani Sabrina, Saladino Francesca, Moggio Maurizio, Bresolin Nereo, Ferrero Iliana, Comi Giacomo P

Abstract excerpt

A disulfide relay system (DRS) was recently identified in the yeast mitochondrial intermembrane space (IMS) that consists of two essential components: the sulfhydryl oxidase Erv1 and the redox-regulated import receptor Mia40. The DRS drives the import of cysteine-rich proteins into the IMS via an oxidative folding mechanism. Erv1p is reoxidized within this system, transferring its electrons to molecular oxygen...

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Identifiers

PMID: 19409522
DOI: 10.1016/j.ajhg.2009.04.004
PMCID: PMC2681006

Genes

GFER

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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