TY  - JOUR
AU  - Stenton, Sarah L
AU  - Sheremet, Natalia L
AU  - Catarino, Claudia B
AU  - Andreeva, Natalia A
AU  - Assouline, Zahra
AU  - Barboni, Piero
AU  - Barel, Ortal
AU  - Berutti, Riccardo
AU  - Bychkov, Igor
AU  - Caporali, Leonardo
AU  - Capristo, Mariantonietta
AU  - Carbonelli, Michele
AU  - Cascavilla, Maria L
AU  - Charbel Issa, Peter
AU  - Freisinger, Peter
AU  - Gerber, Sylvie
AU  - Ghezzi, Daniele
AU  - Graf, Elisabeth
AU  - Heidler, Juliana
AU  - Hempel, Maja
AU  - Heon, Elise
AU  - Itkis, Yulya S
AU  - Javasky, Elisheva
AU  - Kaplan, Josseline
AU  - Kopajtich, Robert
AU  - Kornblum, Cornelia
AU  - Kovacs-Nagy, Reka
AU  - Krylova, Tatiana D
AU  - Kunz, Wolfram S
AU  - La Morgia, Chiara
AU  - Lamperti, Costanza
AU  - Ludwig, Christina
AU  - Malacarne, Pedro F
AU  - Maresca, Alessandra
AU  - Mayr, Johannes A
AU  - Meisterknecht, Jana
AU  - Nevinitsyna, Tatiana A
AU  - Palombo, Flavia
AU  - Pode-Shakked, Ben
AU  - Shmelkova, Maria S
AU  - Strom, Tim M
AU  - Tagliavini, Francesca
AU  - Tzadok, Michal
AU  - van der Ven, Amelie T
AU  - Vignal-Clermont, Catherine
AU  - Wagner, Matias
AU  - Zakharova, Ekaterina Y
AU  - Zhorzholadze, Nino V
AU  - Rozet, Jean-Michel
AU  - Carelli, Valerio
AU  - Tsygankova, Polina G
AU  - Klopstock, Thomas
AU  - Wittig, Ilka
AU  - Prokisch, Holger
TI  - Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
JO  - The journal of clinical investigation
VL  - 131
IS  - 6
SN  - 1558-8238
CY  - Ann Arbor, Mich.
PB  - ASCJ
M1  - DZNE-2021-01184
SP  - e138267
PY  - 2021
AB  - 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
KW  - Adolescent
KW  - Adult
KW  - Cell Line
KW  - Child, Preschool
KW  - Electron Transport Complex I: chemistry
KW  - Electron Transport Complex I: metabolism
KW  - Female
KW  - Gene Knockout Techniques
KW  - Genes, Recessive
KW  - HSP40 Heat-Shock Proteins: deficiency
KW  - HSP40 Heat-Shock Proteins: genetics
KW  - HSP40 Heat-Shock Proteins: metabolism
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Optic Atrophy, Hereditary, Leber: genetics
KW  - Optic Atrophy, Hereditary, Leber: metabolism
KW  - Pedigree
KW  - Penetrance
KW  - Phenotype
KW  - Protein Subunits
KW  - Reactive Oxygen Species: metabolism
KW  - Young Adult
KW  - Genetic diseases (Other)
KW  - Genetics (Other)
KW  - Neuroscience (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:33465056
C2  - pmc:PMC7954600
DO  - DOI:10.1172/JCI138267
UR  - https://pub.dzne.de/record/157727
ER  -