SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1017657314
P356DOI10.1038/3804
P3181OpenCitations bibliographic resource ID4307651
P698PubMed publication ID9843204
P5875ResearchGate publication ID13444901

P2093author name stringJ Wang
Z Zhu
J Yao
R M Brown
M Chevrette
E A Shoubridge
K Fu
G K Brown
T Johns
A P Cuthbert
C Macmillan
R F Newbold
I De Bie
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Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiaeQ24310678
Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutantQ24319047
Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIcQ74450832
Subacute necrotizing encephalomyelopathy in an infantQ24564004
The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondriaQ27931009
SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respirationQ27939004
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34Q28245141
The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and humanQ28299197
Ribosomal protein L7a is encoded by a gene (Surf-3) within the tightly clustered mouse surfeit locusQ28591713
Computational method to predict mitochondrially imported proteins and their targeting sequencesQ29547581
Interrelationships of the pathways of mRNA decay and translation in eukaryotic cellsQ29620524
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic studyQ30840538
Ribosomal protein L27 is identical in chick and rat.Q33263151
Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell linesQ33763867
Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha geneQ34231358
Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).Q36189741
A general high-efficiency procedure for production of microcell hybridsQ36375264
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literatureQ36447731
Interactions among three proteins that specifically activate translation of the mitochondrial COX3 mRNA in Saccharomyces cerevisiaeQ36645591
The mouse surfeit locus contains a cluster of six genes associated with four CpG-rich islands in 32 kilobases of genomic DNA.Q36717413
Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolutionQ37106346
The bidirectional promoter of the divergently transcribed mouse Surf-1 and Surf-2 genesQ38336307
Gene targeting for somatic cell manipulation: rapid analysis of reduced chromosome hybrids by Alu-PCR fingerprinting and chromosome paintingQ38514166
Gene transfer into mammalian cells by particle bombardmentQ38568295
An immortalized human fibroblast cell line is permissive for human cytomegalovirus infectionQ40045592
Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome)Q40284347
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.Q41129950
Neuropathology and pathogenesis of mitochondrial diseasesQ41180881
Identification of human tumour suppressor genes by monochromosome transfer: rapid growth-arrest response mapped to 9p21 is mediated solely by the cyclin-D-dependent kinase inhibitor gene, CDKN2A (p16INK4A).Q41180913
Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh diseaseQ43499491
Physical mapping of human chromosome 17 using fragment-containing microcell hybridsQ43595115
Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndromeQ44595873
Characterization of cytochrome-c oxidase mutants in human fibroblastsQ44913445
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndromeQ48054632
Cytochrome c oxidase deficiency in Leigh syndromeQ48203324
A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndromeQ48647985
Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNATrp geneQ48649113
Leigh syndrome: clinical features and biochemical and DNA abnormalities.Q49107059
Deficiency of respiratory chain complex I is a common cause of Leigh disease.Q55066535
Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studiesQ55984317
Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculationsQ63644741
Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)Q69363486
Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cellsQ70979896
Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndromeQ71943526
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndromeQ72632067
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectSURF1 cytochrome c oxidase assembly factorQ21108425
P304page(s)337-43
P577publication date1998-12-01
P1433published inNature GeneticsQ976454
P1476titleSURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
P478volume20

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