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UnknownThe p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Not available
S-EPMC2947428 | biostudies-literature
UnknownPathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Not available
S-EPMC7042492 | biostudies-literature
UnknownNatural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Not available
S-EPMC9534328 | biostudies-literature
UnknownBi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
Not available
S-EPMC7645371 | biostudies-literature
UnknownAdult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
Not available
S-EPMC5240610 | biostudies-literature
UnknownExpert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
Not available
S-EPMC10763625 | biostudies-literature
UnknownLeigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosis.
Not available
S-EPMC6414492 | biostudies-literature
UnknownBI-ALLELIC PATHOGENIC VARIANTS IN NDUFC2 CAUSE EARLY-ONSET LEIGH SYNDROME AND STALLED BIOGENESIS OF COMPLEX I
Not available
S-SCDT-EMM-2020-12619 | biostudies-other
ProteomicsComplexome profiling of mitochondrial protein complexes from patients with mutation in NDUFAF8 gene
NDUFAF8 is an assembly factor of the NADH:ubiquinone oxidoreductase (complex I). Here we used complexome profiling the functional consequences of NDUFAF8 mutations in patient fibroblasts.
ORGANISM(S): Homo sapiens (Human) 
2020-03-05 | PXD015749 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i assembly 
ProteomicsComplexome profiling of mitochondrial protein complexes from patients with mutation in NDUFC2 gene
NDUFC2 is a subunit of the membrane part of NADH:ubiquinone oxidoreductase (complex I). Here we used complexome profiling to study the role of NDUFC2 in complex I stability and assembly.
ORGANISM(S): Homo sapiens (Human) 
2020-08-10 | PXD014936 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i assembly 
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