Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder-Reference-Cited by-同舟云学术

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

Published:2015-07-13 Issue:8 Volume:47 Page:926-932
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3354.pdf

Reference40 articles.

1. Delettre, C., Lenaers, G., Pelloquin, L., Belenguer, P. & Hamel, C.P. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol. Genet. Metab. 75, 97–107 (2002).

2. Alexander, C. et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 26, 211–215 (2000).

3. Züchner, S. et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat. Genet. 36, 449–451 (2004).

4. Chan, D.C. Dissecting mitochondrial fusion. Dev. Cell 11, 592–594 (2006).

5. Sesaki, H. & Jensen, R.E. UGO1 encodes an outer membrane protein required for mitochondrial fusion. J. Cell Biol. 152, 1123–1134 (2001).

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