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Titel:

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

Dokumenttyp:
Zeitschriftenaufsatz
Autor(en):
Stenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor O.; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria Lucia; Charbel Issa, Peter; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulia S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy,...     »
Abstract:
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 the mitochondrial DNA (mtDNA). A molecular diagnosis is reached in up to 95%, the vast majority of which are accounted for by three mutations within mitochondrial complex I (CI) subunit encoding genes in the mtDNA (mtLHON). Here, we resolve the enigma of LHON in the absence of pathogenic mtDNA mutations. We describe biallelic mutations in a nucl...     »
Stichworte:
BayBioMS; Genetic diseases; Genetics; Neuroscience
Zeitschriftentitel:
Journal of Clinical Investigation
Jahr:
2021
Volltext / DOI:
doi:10.1172/jci138267
Verlag / Institution:
American Society for Clinical Investigation
E-ISSN:
1558-8238
Publikationsdatum:
19.01.2021
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