A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability
about
C11orf83, 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.The genetics and pathology of mitochondrial disease.Nuclear gene mutations as the cause of mitochondrial complex III deficiencyMitochondrial C11orf83 is a potent Antiviral Protein Independent of interferon production.Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesSevere respiratory complex III defect prevents liver adaptation to prolonged fasting.Mitochondrial complex III Rieske Fe-S protein processing and assembly.Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.The functional genomics laboratory: functional validation of genetic variants.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
P2860
Q24315727-627898AE-4787-44D3-91AE-2B7B5B0CFAB8Q30887594-F1357CD2-E1A8-4F57-9ED4-E9AB4687BA96Q37560946-B5A42366-B214-4077-A541-A2293C2001B5Q38443565-33794A3C-211F-49F1-BCD6-9933FDAB0FCAQ40239006-00A7148B-8D4C-44C8-B543-D622AD7C92F5Q41211939-FE1AFC0A-65F6-4F6F-BB2C-DC3E75400D7BQ46869930-354B423D-DB9B-4169-93C6-E93E129CFB77Q47290712-9893C0B5-FC79-4252-8528-DE35A1217506Q47941089-F0F9E5B1-9379-4F4B-9094-C51950D5E74AQ49991801-CD1053DA-8768-4D0E-A436-2A1F968D4EB4Q51105220-8AA2A269-6089-4735-B905-6DD2A20C252EQ56687740-BF68CF54-810A-4371-B0B0-1392A5AC2B7CQ56760543-BBB6332D-81B1-48D5-83F9-7858597AC987Q57175222-2731CFD7-4829-4550-B163-2D946329C9FF
P2860
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@ast
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@en
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@en-gb
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@nl
type
label
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@ast
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@en
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@en-gb
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@nl
prefLabel
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@ast
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@en
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@en-gb
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@nl
P2093
P2860
P50
P356
P1476
A mutation in the human CBP4 o ...... ity and cytochrome b stability
@en
P2093
An Jonckheere
Areej Elkamil
Bas F J Wanschers
Ingrid B Helland
Janneke Suijskens
Katharina Stephan
Leo G Nijtmans
Mariël A M van den Brand
Martin Ott
Radek Szklarczyk
P2860
P304
P356
10.1093/HMG/DDU357
P407
P577
2014-12-01T00:00:00Z