Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
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Mitochondrial CardiomyopathiesUpregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient FibroblastsTissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease.Maintaining ancient organelles: mitochondrial biogenesis and maturation.Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesisFatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.Differential proteomic and oxidative profiles unveil dysfunctional protein import to adipocyte mitochondria in obesity-associated aging and diabetes.Multipronged approach to identify and validate a novel upstream regulator of Sncg in mouse retinal ganglion cells.Mitochondrial DNA mutations and cardiovascular disease.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders.Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.Muscle-specific deletion of Prkaa1 enhances skeletal muscle lipid accumulation in mice fed a high-fat diet.Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.Mitoregulin: A lncRNA-Encoded Microprotein that Supports Mitochondrial Supercomplexes and Respiratory EfficiencyFenton reactions drive nucleotide and ATP syntheses in cancer
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P2860
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
description
2014 nî lūn-bûn
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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
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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
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@ast
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@en
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@nl
type
label
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@ast
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@en
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@nl
prefLabel
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@ast
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@en
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@nl
P2093
P2860
P50
P356
P1476
Mitochondrial complex IV defic ...... rocephalus and cardiomyopathy.
@en
P2093
Avraham Shaag
Chaya Miller
Devorah Soiferman
Orly Elpeleg
Ulla Najwa Abdulhag
P2860
P2888
P304
P356
10.1038/EJHG.2014.85
P577
2014-04-30T00:00:00Z
P6179
1027762909