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A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

artículo científico publicado en 2011

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

artículo científico publicado en 2012

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

artículo científico publicado en 2014

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

artículo científico publicado en 2009

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

artículo científico publicado en 2010

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

artículo científico publicado en 2013

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion

scientific journal article

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

artículo científico publicado en 2009

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

artículo científico publicado en 2012

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

artículo científico publicado en 2006

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

artículo científico publicado en 2009

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.

artículo científico publicado en 2012

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

artículo científico publicado en 2012

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes

artículo científico publicado en 2009

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

scientific journal article

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

artículo científico publicado en 2009

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

artículo científico publicado en 2013

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

artículo científico publicado en 2010

NDUFA2 complex I mutation leads to Leigh disease

artículo científico publicado en 2008

NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I

artículo científico publicado en 2011

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

artículo científico publicado en 2010

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

artículo científico publicado en 2006

TEFM (c17orf42) is necessary for transcription of human mtDNA

artículo científico publicado en 2011