Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

Dominant optic atrophy (DOA)(1,2) and axonal peripheral neuropathy (Charcot-Marie-Tooth Type 2 or CMT2)(3) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively(4). In yeast, homologs of OPA1(Mgm1) and MFN...

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Vydáno v:Nat Genet
Hlavní autoři: 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., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4520737/
https://ncbi.nlm.nih.gov/pubmed/26168012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3354
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