Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
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Mapping gene associations in human mitochondria using clinical disease phenotypesFrom 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 oxidaseMitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesTreatment for mitochondrial disordersTreatment for mitochondrial disordersMultiplex meta-analysis of RNA expression to identify genes with variants associated with immune dysfunctionMolecular markers of early Parkinson's disease based on gene expression in bloodCa2+/calmodulin-dependent protein kinase II is a modulator of CARMA1-mediated NF-kappaB activationLRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAsC7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosomeMutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosisLRP130, a pentatricopeptide motif protein with a noncanonical RNA-binding domain, is bound in vivo to mitochondrial and nuclear RNAsDefects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complexPentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translationPentatricopeptide repeat domain protein 1 lowers the levels of mitochondrial leucine tRNAs in cellsCopper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiencyThe role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNAEthylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.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.New invMED1 element cis-activates human multidrug-related MDR1 and MVP genes, involving the LRP130 proteinGenome-wide analysis of Arabidopsis pentatricopeptide repeat proteins reveals their essential role in organelle biogenesisUXT (Ubiquitously Expressed Transcript) causes mitochondrial aggregationA primary xenograft model of small-cell lung cancer reveals irreversible changes in gene expression imposed by culture in vitroA haplotype map of the human genomeNew methods for finding disease-susceptibility genes: impact and potentialAtlas - a data warehouse for integrative bioinformaticsIntegration of text- and data-mining using ontologies successfully selects disease gene candidatesMitoP2: the mitochondrial proteome database--now including mouse dataRole of Energy Metabolism in the Brown Fat Gene ProgramMitochondrial targets for pharmacological intervention in human diseaseEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseThe human mitochondrial transcriptome and the RNA-binding proteins that regulate its expressionAccessorizing the human mitochondrial transcription machineryStructural basis for the modular recognition of single-stranded RNA by PPR proteinsEvolutionary and genetic analyses of mitochondrial translation initiation factors identify the missing mitochondrial IF3 in S. cerevisiae.The mitochondrial message-specific mRNA protectors Cbp1 and Pet309 are associated in a high-molecular weight complex.Mss51p and Cox14p jointly regulate mitochondrial Cox1p expression in Saccharomyces cerevisiae.Assessing systems properties of yeast mitochondria through an interaction map of the organelle
P2860
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P2860
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Identification of a gene causi ...... ciency by integrative genomics
@nl
Identification of a gene causi ...... iency by integrative genomics.
@ast
Identification of a gene causi ...... iency by integrative genomics.
@en
type
label
Identification of a gene causi ...... ciency by integrative genomics
@nl
Identification of a gene causi ...... iency by integrative genomics.
@ast
Identification of a gene causi ...... iency by integrative genomics.
@en
prefLabel
Identification of a gene causi ...... ciency by integrative genomics
@nl
Identification of a gene causi ...... iency by integrative genomics.
@ast
Identification of a gene causi ...... iency by integrative genomics.
@en
P2093
P2860
P50
P3181
P356
P1476
Identification of a gene causi ...... iency by integrative genomics.
@en
P2093
Amelie Villeneuve
Brian Robinson
Charles Morin
Fenghao Xu
Grant A Mitchell
Kathleen Miller
Majbrit Hjerrild
Matthias Mann
Michael Reich
Pierre Lepage
P2860
P304
P3181
P356
10.1073/PNAS.242716699
P407
P577
2003-01-14T00:00:00Z