Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Cell Culture, Fibroblast
SUBMITTER: Ilka Wittig
LAB HEAD: Holger Prokisch
PROVIDER: PXD022340 | Pride | 2021-09-09
REPOSITORIES: Pride
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Data_analysis.xlsx | Xlsx | |||
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P20_054_Revision_DNAJC30_HEK_KO_01.raw | Raw | |||
P20_054_Revision_DNAJC30_HEK_KO_02.raw | Raw | |||
P20_054_Revision_DNAJC30_HEK_KO_03.raw | Raw |
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The Journal of clinical investigation 20210301 6
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 in the mtDNA (mtLHON). Here, we resolve the enigma of LHON in the absence of pathogenic mtDNA mutations. We describe biallelic mutations in a nuclear ...[more]