Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
about
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathyNDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex IMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseA molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseMitochondrial geneticsBiochemical diagnosis of mitochondrial disordersNDUFA2 complex I mutation leads to Leigh diseaseA novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in functionFatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.Neuroanatomical pattern of mitochondrial complex I pathology varies between schizophrenia, bipolar disorder and major depression.Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretionGene network landscape of the ciliate Tetrahymena thermophila.Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation.Glia are critical for the neuropathology of complex I deficiency in DrosophilaDefective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin miceThe p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesIntroduction of an additional pathway for lactate oxidation in the treatment of lactic acidosis and mitochondrial dysfunction in Caenorhabditis elegans.A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant BehaviorThe genetics of Leigh syndrome and its implications for clinical practice and risk managementMitochondrial encephalomyopathies.Mice lacking TR4 nuclear receptor develop mitochondrial myopathy with deficiency in complex I.Loss of AMP-activated protein kinase induces mitochondrial dysfunction and proinflammatory response in unstimulated Abcd1-knockout mice mixed glial cells.An update on complex I assembly: the assembly of players.Mitochondriopathies.Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.An overview of chagasic cardiomyopathy: pathogenic importance of oxidative stress.Mitochondrial diseases: a nosological update.Molecular diagnostics and mitochondrial dysfunction: a future perspective.Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander DiseasePathogenic mutations of nuclear genes associated with mitochondrial disorders.Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).The genetics and pathology of mitochondrial disease.Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
P2860
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P2860
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Large-scale deletion and point ...... chondrial complex I deficiency
@ast
Large-scale deletion and point ...... chondrial complex I deficiency
@en
Large-scale deletion and point ...... chondrial complex I deficiency
@en-gb
Large-scale deletion and point ...... chondrial complex I deficiency
@nl
type
label
Large-scale deletion and point ...... chondrial complex I deficiency
@ast
Large-scale deletion and point ...... chondrial complex I deficiency
@en
Large-scale deletion and point ...... chondrial complex I deficiency
@en-gb
Large-scale deletion and point ...... chondrial complex I deficiency
@nl
prefLabel
Large-scale deletion and point ...... chondrial complex I deficiency
@ast
Large-scale deletion and point ...... chondrial complex I deficiency
@en
Large-scale deletion and point ...... chondrial complex I deficiency
@en-gb
Large-scale deletion and point ...... chondrial complex I deficiency
@nl
P2093
P2860
P356
P1476
Large-scale deletion and point ...... chondrial complex I deficiency
@en
P2093
Chretien D
Cormier-Daire V
Peudenier S
de Lonlay-Debeney P
P2860
P304
P356
10.1086/320603
P407
P577
2001-05-07T00:00:00Z