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Article

Novel insights into SLC25A46-related pathologies in a genetic mouse model.

PLoS genetics - 1 Apr 2017

Terzenidou Maria Eirini, Segklia Aikaterini, Kano Toshimi, Papastefanaki Florentia, Karakostas Alexandros, Charalambous Maria, Ioakeimidis Fotis, Papadaki Maria, Kloukina Ismini, Chrysanthou-Piterou Margarita, Samiotaki Martina, Panayotou George, Matsas Rebecca, Douni Eleni

Abstract excerpt

The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia. SLC25A46 is an outer membrane protein, member of the Solute Carrier 25 (SLC25) family of nuclear genes encoding...

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Identifiers

PMID: 28376086
DOI: 10.1371/journal.pgen.1006656
PMCID: PMC5380310

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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