Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
about
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolismCytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosisMutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyMutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast.The channel-forming Sym1 protein is transported by the TIM23 complex in a presequence-independent mannerHomozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentationCytochrome c oxidase deficiencyMutation screening in patients with isolated cytochrome c oxidase deficiencyLRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.Newly born peroxisomes are a hybrid of mitochondrial and ER-derived pre-peroxisomes.Human cytochrome oxidase deficiency.Inducible expression of a dominant negative DNA polymerase-gamma depletes mitochondrial DNA and produces a rho0 phenotype.Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1.Defects in cytochrome oxidase assembly in humans: lessons from yeast.Loss of function of Sco1 and its interaction with cytochrome c oxidase.Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients.An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.Ablation of the mitochondrial complex IV assembly protein Surf1 leads to increased expression of the UPR(MT) and increased resistance to oxidative stress in primary cultures of fibroblasts.Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesisA CMC1-knockout reveals translation-independent control of human mitochondrial complex IV biogenesis.Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencingTissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.A novel heme a insertion factor gene cotranscribes with the Thermus thermophilus cytochrome ba3 oxidase locusMutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model.The mammalian phosphate carrier SLC25A3 is a mitochondrial copper transporter required for cytochrome c oxidase biogenesis.A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
P2860
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P2860
Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Expression and functional anal ...... ytochrome c oxidase deficiency
@ast
Expression and functional anal ...... ytochrome c oxidase deficiency
@en
Expression and functional anal ...... ytochrome c oxidase deficiency
@nl
type
label
Expression and functional anal ...... ytochrome c oxidase deficiency
@ast
Expression and functional anal ...... ytochrome c oxidase deficiency
@en
Expression and functional anal ...... ytochrome c oxidase deficiency
@nl
prefLabel
Expression and functional anal ...... ytochrome c oxidase deficiency
@ast
Expression and functional anal ...... ytochrome c oxidase deficiency
@en
Expression and functional anal ...... ytochrome c oxidase deficiency
@nl
P2860
P3181
P356
P1476
Expression and functional anal ...... ytochrome c oxidase deficiency
@en
P2093
P2860
P304
P3181
P356
10.1093/HMG/8.13.2541
P407
P577
1999-12-01T00:00:00Z