Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression
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A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityC11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilizationA Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.Assembly factors monitor sequential hemylation of cytochrome b to regulate mitochondrial translation.Renal manifestations of primary mitochondrial disorders.ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryCase report: perioperative management of caesarean section for a parturient with mitochondrial myopathyA novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cellsMicroRNA-mRNA regulatory networking fine-tunes the porcine muscle fiber type, muscular mitochondrial respiratory and metabolic enzyme activities.The genetics and pathology of mitochondrial disease.Nuclear gene mutations as the cause of mitochondrial complex III deficiencyThe process of mammalian mitochondrial protein synthesis.Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesA novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.Transcriptome analysis for UVB-induced phototoxicity in mouse retina.Epigenetic modification of miR-663 controls mitochondria-to-nucleus retrograde signaling and tumor progression.Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.Mitochondrial complex III Rieske Fe-S protein processing and assembly.UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature reviewAssembly of mammalian oxidative phosphorylation complexes I-V and supercomplexesHuman diseases associated with defects in assembly of OXPHOS complexes
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P2860
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression
description
2013 nî lūn-bûn
@nan
2013 թուականին հրատարակուած գիտական յօդուած
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2013 թվականին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
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name
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@ast
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@en
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@en-gb
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@nl
type
label
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@ast
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@en
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@en-gb
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@nl
prefLabel
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@ast
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@en
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@en-gb
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@nl
P2093
P2860
P50
P921
P3181
P1433
P1476
Mutations in the UQCC1-interac ...... ytochrome b protein expression
@en
P2093
Ann E Frazier
Anne M Leenders
Bas F J Wanschers
Damien L Bruno
Elena J Tucker
Hitoshi Endo
Leo G Nijtmans
Mariël A M van den Brand
Radek Szklarczyk
Xiaonan W Wijeyeratne
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1004034
P407
P50
P577
2013-12-26T00:00:00Z