A mitochondrial protein compendium elucidates complex I disease biology
about
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progressionKeeping mtDNA in shape between generationsMitochondria express α7 nicotinic acetylcholine receptors to regulate Ca2+ accumulation and cytochrome c release: study on isolated mitochondriaIterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidaseExome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegiaGlobal analyses of Ceratocystis cacaofunesta mitochondria: from genome to proteomeMitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesCommon inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traitsMolecular aspects of thyroid hormone actionsImage-based genome-wide siRNA screen identifies selective autophagy factorsMICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptakeSIRT5-mediated lysine desuccinylation impacts diverse metabolic pathwaysPhosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymesMPV17L2 is required for ribosome assembly in mitochondriaFOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyHuman METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondriaMutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosisMutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)Identification of a molecular component of the mitochondrial acetyltransferase programme: a novel role for GCN5L1Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesisIntegrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporterDiscovery of a novel function for human Rad51: maintenance of the mitochondrial genomeLoss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseasePentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translationMitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesisCLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activityMutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial diseaseC11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilizationHuman ind1, an iron-sulfur cluster assembly factor for respiratory complex IMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionSDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paragangliomaCharacterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex IMutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyMutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemiaAcyl coenzyme A thioesterase Them5/Acot15 is involved in cardiolipin remodeling and fatty liver developmentMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseMutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeCopper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiencyQIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphologyInner-membrane proteins PMI/TMEM11 regulate mitochondrial morphogenesis independently of the DRP1/MFN fission/fusion pathways
P2860
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P248
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P2860
A mitochondrial protein compendium elucidates complex I disease biology
description
2008 nî lūn-bûn
@nan
2008 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A mitochondrial protein compendium elucidates complex I disease biology
@ast
A mitochondrial protein compendium elucidates complex I disease biology
@en
A mitochondrial protein compendium elucidates complex I disease biology
@nl
type
label
A mitochondrial protein compendium elucidates complex I disease biology
@ast
A mitochondrial protein compendium elucidates complex I disease biology
@en
A mitochondrial protein compendium elucidates complex I disease biology
@nl
prefLabel
A mitochondrial protein compendium elucidates complex I disease biology
@ast
A mitochondrial protein compendium elucidates complex I disease biology
@en
A mitochondrial protein compendium elucidates complex I disease biology
@nl
P2093
P2860
P3181
P1433
P1476
A mitochondrial protein compendium elucidates complex I disease biology
@en
P2093
Avihu Boneh
Betty Chang
Canny Sugiana
David E Hill
Geoffrey A Walford
James G Evans
Marc Vidal
Sarah E Calvo
Scott B Vafai
Shao-En Ong
P2860
P304
P3181
P356
10.1016/J.CELL.2008.06.016
P407
P577
2008-07-11T00:00:00Z