Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Leber’s hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis is achieved in up to 95% of cases, the vast majority of which are accounted for by 3 mutations wit...

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Библиографические подробности
Опубликовано в: :J Clin Invest
Главные авторы: Stenton, Sarah L., Sheremet, Natalia L., Catarino, Claudia B., Andreeva, Natalia A., Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L., Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S., Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D., Kunz, Wolfram S., La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F., Maresca, Alessandra, Mayr, Johannes A., Meisterknecht, Jana, Nevinitsyna, Tatiana A., Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S., Strom, Tim M., Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T., Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y., Zhorzholadze, Nino V., Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G., Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2021
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7954600/
https://ncbi.nlm.nih.gov/pubmed/33465056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI138267
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