Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
about
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 stabilizationMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionCombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseMitochondrial disease in childhood: nuclear encodedMitochondrial geneticsIdentification of 526 conserved metazoan genetic innovations exposes a new role for cofactor E-like in neuronal microtubule homeostasisThe LYR protein Mzm1 functions in the insertion of the Rieske Fe/S protein in yeast mitochondria.Circadian Clock Dysfunction and Psychiatric Disease: Could Fruit Flies have a Say?Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cellsA novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.A 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.Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation.LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.Respiratory supercomplexes: structure, function and assembly.Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh SyndromeA novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patientMutations in TTC19: expanding the molecular, clinical and biochemical phenotype.Biogenesis of the cytochrome bc(1) complex and role of assembly factors.Hypertrophic olivary degeneration: A clinico-radiologic study.Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.The genetics and pathology of mitochondrial disease.Functional characterization of drim2, the Drosophila melanogaster homolog of the yeast mitochondrial deoxynucleotide transporter.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.Mechanisms of mitochondrial diseases.Review: quantifying mitochondrial dysfunction in complex diseases of aging.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Nuclear gene mutations as the cause of mitochondrial complex III deficiencyThe MICOS complex of human mitochondria.PARL mediates Smac proteolytic maturation in mitochondria to promote apoptosis.Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencingOvercoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
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P2860
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@ast
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@en
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@en-gb
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@nl
type
label
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@ast
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@en
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@en-gb
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@nl
prefLabel
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@ast
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@en
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@en-gb
Mutations in TTC19 cause mitoc ...... impairment in humans and flies
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Mutations in TTC19 cause mitoc ...... impairment in humans and flies
@en
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Caterina Da Re
Caterina Mariotti
Cristina Smiderle
Mauro Zordan
Paola Arzuffi
Rodolfo Costa
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P304
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P356
10.1038/NG.761
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2011-03-01T00:00:00Z
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1031394214