A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
about
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingMitonuclear interactions: evolutionary consequences over multiple biological scalesDifferentiation of single cell derived human mesenchymal stem cells into cells with a neuronal phenotype: RNA and microRNA expression profile.New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.Disrupting mitochondrial-nuclear coevolution affects OXPHOS complex I integrity and impacts human health.Mito-nuclear co-evolution: the positive and negative sides of functional ancient mutationsNatural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Mitochondrial Involvement in Vertebrate Speciation? The Case of Mito-nuclear Genetic Divergence in Chameleons.PPARα modulates gene expression profiles of mitochondrial energy metabolism in oral tumorigenesisImpaired mitochondrial metabolism and mammary carcinogenesisSeverity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.A mitochondrial bioenergetic etiology of disease.Genetic counseling in mitochondrial disease.The impact of darwinian evolution on medicine: the maternal side of the story.Mitochondrial DNA variation and virologic and immunological HIV outcomes in African Americans.Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.The pathophysiology of mitochondrial disease as modeled in the mouse.The molecular basis of human complex I deficiency.Accessory subunits of mitochondrial complex I.Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.Correspondence to: "Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency" and "A novel NDUFA1 mutation leads to progressive mitochondrial complex I- specific neurodegenerative disease".Risks inherent to mitochondrial replacementMyelomatous plasma cells display an aberrant gene expression pattern similar to that observed in normal memory B cells.Functional prediction and physiological characterization of a novel short trans-membrane protein 1 as a subunit of mitochondrial respiratory complexes.Gene expression associated with PTSD in World Trade Center responders: An RNA sequencing study.Gene expression study of mitochondrial complex I in schizophrenia and paranoid personality disorder.Mito-Nuclear Interactions Affecting Lifespan and Neurodegeneration in a Drosophila Model of Leigh Syndrome.Identification of homocysteine-suppressive mitochondrial ETC complex genes and tissue expression profile - Novel hypothesis establishment.Mitonuclear linkage disequilibrium in human populations.Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
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P2860
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 29 January 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A novel NDUFA1 mutation leads ...... ific neurodegenerative disease
@en
A novel NDUFA1 mutation leads ...... fic neurodegenerative disease.
@nl
type
label
A novel NDUFA1 mutation leads ...... ific neurodegenerative disease
@en
A novel NDUFA1 mutation leads ...... fic neurodegenerative disease.
@nl
prefLabel
A novel NDUFA1 mutation leads ...... ific neurodegenerative disease
@en
A novel NDUFA1 mutation leads ...... fic neurodegenerative disease.
@nl
P2093
P2860
P1476
A novel NDUFA1 mutation leads ...... ific neurodegenerative disease
@en
P2093
Antonio Davila
Dan Mishmar
Douglas C Wallace
Eduardo Ruiz-Pesini
Immo E Scheffler
Mariella Simon
Prasanth Potluri
Saege Hancock
Sean O'Hearn
Vincent Procaccio
P2860
P304
P356
10.1016/J.YMGME.2008.12.004
P577
2009-01-29T00:00:00Z