%0 Journal Article
%A Stenton, Sarah L
%A Sheremet, Natalia L
%A Catarino, Claudia B
%A Andreeva, Natalia A
%A Assouline, Zahra
%A Barboni, Piero
%A Barel, Ortal
%A Berutti, Riccardo
%A Bychkov, Igor
%A Caporali, Leonardo
%A Capristo, Mariantonietta
%A Carbonelli, Michele
%A Cascavilla, Maria L
%A Charbel Issa, Peter
%A Freisinger, Peter
%A Gerber, Sylvie
%A Ghezzi, Daniele
%A Graf, Elisabeth
%A Heidler, Juliana
%A Hempel, Maja
%A Heon, Elise
%A Itkis, Yulya S
%A Javasky, Elisheva
%A Kaplan, Josseline
%A Kopajtich, Robert
%A Kornblum, Cornelia
%A Kovacs-Nagy, Reka
%A Krylova, Tatiana D
%A Kunz, Wolfram S
%A La Morgia, Chiara
%A Lamperti, Costanza
%A Ludwig, Christina
%A Malacarne, Pedro F
%A Maresca, Alessandra
%A Mayr, Johannes A
%A Meisterknecht, Jana
%A Nevinitsyna, Tatiana A
%A Palombo, Flavia
%A Pode-Shakked, Ben
%A Shmelkova, Maria S
%A Strom, Tim M
%A Tagliavini, Francesca
%A Tzadok, Michal
%A van der Ven, Amelie T
%A Vignal-Clermont, Catherine
%A Wagner, Matias
%A Zakharova, Ekaterina Y
%A Zhorzholadze, Nino V
%A Rozet, Jean-Michel
%A Carelli, Valerio
%A Tsygankova, Polina G
%A Klopstock, Thomas
%A Wittig, Ilka
%A Prokisch, Holger
%T Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
%J The journal of clinical investigation
%V 131
%N 6
%@ 1558-8238
%C Ann Arbor, Mich.
%I ASCJ
%M DZNE-2021-01184
%P e138267
%D 2021
%X 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
%K Adolescent
%K Adult
%K Cell Line
%K Child, Preschool
%K Electron Transport Complex I: chemistry
%K Electron Transport Complex I: metabolism
%K Female
%K Gene Knockout Techniques
%K Genes, Recessive
%K HSP40 Heat-Shock Proteins: deficiency
%K HSP40 Heat-Shock Proteins: genetics
%K HSP40 Heat-Shock Proteins: metabolism
%K Homozygote
%K Humans
%K Male
%K Middle Aged
%K Mutation
%K Optic Atrophy, Hereditary, Leber: genetics
%K Optic Atrophy, Hereditary, Leber: metabolism
%K Pedigree
%K Penetrance
%K Phenotype
%K Protein Subunits
%K Reactive Oxygen Species: metabolism
%K Young Adult
%K Genetic diseases (Other)
%K Genetics (Other)
%K Neuroscience (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:33465056
%2 pmc:PMC7954600
%R 10.1172/JCI138267
%U https://pub.dzne.de/record/157727