Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

doi:10.1038/ng.3354

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Article

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Nature genetics - 1 Aug 2015

Abrams Alexander J, Hufnagel Robert B, Rebelo Adriana, Zanna Claudia, Patel Neville, Gonzalez Michael A, Campeanu Ion J, Griffin Laurie B, Groenewald Saskia, Strickland Alleene V, Tao Feifei, Speziani Fiorella, Abreu Lisa, Schüle Rebecca, Caporali Leonardo, La Morgia Chiara, Maresca Alessandra, Liguori Rocco, Lodi Raffaele, Ahmed Zubair M, Sund Kristen L, Wang Xinjian, Krueger Laura A, Peng Yanyan, Prada Carlos E, Prows Cynthia A, Schorry Elizabeth K, Antonellis Anthony, Zimmerman Holly H, Abdul-Rahman Omar A, Yang Yaping, Downes Susan M, Prince Jeffery, Fontanesi Flavia, Barrientos Antonio, Németh Andrea H, Carelli Valerio, Huang Taosheng, Zuchner Stephan, Dallman Julia E

Abstract excerpt

Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively. In yeast, homologs of OPA1 (Mgm1) and MFN2 (Fzo1) work in concert with Ugo1, for which no human equivalent has been identified thus far. By whole-exome sequencing of...

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Identifiers

PMID: 26168012
DOI: 10.1038/ng.3354
PMCID: PMC4520737

Genes

MFN2
OPA1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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