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

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. SLC25...

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Publicat a:PLoS Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5380310/
https://ncbi.nlm.nih.gov/pubmed/28376086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006656
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