Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
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Author / Creator
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 and Prokisch, Holger
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 within mitochondrial complex I subunit-encoding genes...
Alternative Titles
Full title
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7954600
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7954600
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI138267
