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UnknownMutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
Not available
S-EPMC3257963 | biostudies-literature
UnknownBi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.
Not available
S-EPMC12256832 | biostudies-literature
UnknownReinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
Not available
S-EPMC4930085 | biostudies-literature
UnknownRegulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor.
Not available
S-EPMC6231642 | biostudies-literature
UnknownTwo Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.
Not available
S-EPMC8397107 | biostudies-literature
ProteomicsTandem Mass Tag proteomics in CHCHD10 patient cells
Mutations in CHCHD10, coding for a mitochondrial intermembrane space protein, are a rare cause of autosomal dominant amyotrophic lateral sclerosis (ALS). Mutation-specific toxic gain of function or haploinsuffuciency models have been proposed to explain pathogenicity. To decipher the metabolic dysfu...
ORGANISM(S): Homo sapiens (Human) 
2022-04-04 | PXD018806 | Pride
Human Fibroblasts Galactose Mitochondria 
UnknownX-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.
Not available
S-EPMC5680935 | biostudies-literature
UnknownA Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.
Not available
S-EPMC4968213 | biostudies-literature
TranscriptomicsGenome-wide consequences of compromised NMD and their relavence for variable clinical phenotype of patients with UPF3B mutations [RNA-seq]
Nonsense-mediated mRNA decay (NMD) surveillance pathways are best known to be involved in the degradation of mRNA with premature termination codons (PTCs). More recent studies demonstrate that the role of NMD pathways goes well beyond the degradation of PTC containing mRNA, into the regulation of ce...
ORGANISM(S): Homo sapiens 
2011-11-01 | E-GEOD-27199 | biostudies-arrayexpress
UnknownPredominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.
Not available
S-EPMC1288340 | biostudies-literature
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