A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
about
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionA Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.Eukaryotic LYR Proteins Interact with Mitochondrial Protein ComplexesYeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.The genetics and pathology of mitochondrial disease.Nuclear gene mutations as the cause of mitochondrial complex III deficiencyNovel Candidate Genes Underlying Extreme Trophic Specialization in Caribbean Pupfishes.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.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.Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.Mitochondrial complex III Rieske Fe-S protein processing and assembly.Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature reviewHuman diseases associated with defects in assembly of OXPHOS complexesNMR as a Tool to Investigate the Processes of Mitochondrial and Cytosolic Iron-Sulfur Cluster Biosynthesis
P2860
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P2860
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
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
@wuu
name
A homozygous mutation in LYRM7 ...... hondrial complex III activity.
@ast
A homozygous mutation in LYRM7 ...... hondrial complex III activity.
@en
type
label
A homozygous mutation in LYRM7 ...... hondrial complex III activity.
@ast
A homozygous mutation in LYRM7 ...... hondrial complex III activity.
@en
prefLabel
A homozygous mutation in LYRM7 ...... hondrial complex III activity.
@ast
A homozygous mutation in LYRM7 ...... hondrial complex III activity.
@en
P2093
P2860
P50
P356
P1433
P1476
A homozygous mutation in LYRM7 ...... hondrial complex III activity.
@en
P2093
Ileana Ferrero
Marco Tigano
Maurizio Cremonte
P2860
P304
P356
10.1002/HUMU.22441
P50
P577
2013-09-23T00:00:00Z