SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
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From bytes to bedside: data integration and computational biology for translational cancer researchIterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidaseStructural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitinCytochrome 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 acidosisNDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyMutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseCopper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiencyLarge-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyCopper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutationsMutations 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 genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Human mitochondrial complex I in health and diseaseA human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutationMitochondria and dystonia: the movement disorder connection?Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseDistinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsTruncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chainIdentification of two Mycobacterium tuberculosis H37Rv ORFs involved in resistance to killing by human macrophagesThe different facets of organelle interplay-an overview of organelle interactionsMitochondrial geneticsMitochondrial disorders: challenges in diagnosis & treatmentAnalysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast.Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor familyShy1 couples Cox1 translational regulation to cytochrome c oxidase assembly.Coa1 links the Mss51 post-translational function to Cox1 cofactor insertion in cytochrome c oxidase assembly.Mss51p and Cox14p jointly regulate mitochondrial Cox1p expression in Saccharomyces cerevisiae.Inaccurately assembled cytochrome c oxidase can lead to oxidative stress-induced growth arrest.Coa3 and Cox14 are essential for negative feedback regulation of COX1 translation in mitochondria.Coa2 is an assembly factor for yeast cytochrome c oxidase biogenesis that facilitates the maturation of Cox1.Dual functions of Mss51 couple synthesis of Cox1 to assembly of cytochrome c oxidase in Saccharomyces cerevisiae mitochondriaCOX16 encodes a novel protein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae.Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentationSURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseA missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathyExpression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
P2860
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P2860
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@ast
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@en
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@en-gb
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@nl
type
label
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@ast
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@en
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@en-gb
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@nl
prefLabel
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@ast
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@en
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@en-gb
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@nl
P2093
P3181
P356
P1433
P1476
SURF1, encoding a factor invol ...... , is mutated in Leigh syndrome
@en
P2093
A P Cuthbert
C Macmillan
E A Shoubridge
M Chevrette
R F Newbold
P2888
P304
P3181
P356
10.1038/3804
P407
P577
1998-12-01T00:00:00Z
P5875
P6179
1017657314