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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-slc25a46-encoding-a-ugo1-like-protein-cause-an-optic-atrophy/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Alexander J. Abrams,Robert B. Hufnagel,Adriana Rebelo,Claudia Zanna,Neville Patel,Michael Gonzalez,Ion John Campeanu,Laurie B. Griffin,Saskia Groenewald,Alleene V. Strickland,Feifei Tao,Fiorella Speziani,Lisa Abreu,Rebecca Schüle,Leonardo Caporali,Chiara La Morgia,Alessandra Maresca,Rocco Liguori,Raffaele Lodi,Zubair M. Ahmed,Kristen L. Sund,Xinjian Wang,Laura A. Krueger,Yanyan Peng,Carlos E. Prada,Cynthia A. Prows,Elizabeth K. Schorry,Anthony Antonellis,Holly H. Zimmerman,Omar Abdul‐Rahman,Yaping Yang,Susan M. Downes,Jeffery Prince,Flavia Fontanesi,Antonio Barrientos,Andrea H. Németh,Valério Carelli,Taosheng Huang,Stephan Züchner,Julia E. Dallman |
| Citations | 207 |
| DOI | 10.1038/ng.3354 |
| Fields | Biochemistry, Genetics and Molecular Biology,Neuroscience |
| Open Access | true |
| OA Status | green |
| OA URL | http://hdl.handle.net/11585/515677 |
| OpenAlex ID | https://openalex.org/W913751427 |
| PMID | 26168012 |
| Type | article |
| Year | 2015 |

## Paper authors

- [Rocco Liguori](https://scholariq.org/researchers/rocco-liguori/)

## Paper primary topic

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

## Paper topics

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Genetic Neurodegenerative Diseases](https://scholariq.org/topics/genetic-neurodegenerative-diseases/)
- [ATP Synthase and ATPases Research](https://scholariq.org/topics/atp-synthase-and-atpases-research/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.