UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 39

Sortiert nach

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

Genome biology, 2012-02, Vol.13 (2), p.R12-R12

2012

Link zum Volltext

Verfügbarkeit prüfen

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

American journal of human genetics, 2009-06, Vol.84 (6), p.718-727

2009

Link zum Volltext

Verfügbarkeit prüfen

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

PLoS genetics, 2013, Vol.9 (12), p.e1004034-e1004034

2013

Link zum Volltext

Verfügbarkeit prüfen

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Human mutation, 2017-06, Vol.38 (6), p.692-703

2017

Link zum Volltext

Verfügbarkeit prüfen

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

American journal of human genetics, 2016-07, Vol.99 (1), p.208-216

2016

Link zum Volltext

Verfügbarkeit prüfen

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients

Molecular genetics and metabolism, 2007-06, Vol.91 (2), p.176-182

2007

Link zum Volltext

Verfügbarkeit prüfen

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

American journal of human genetics, 2011-04, Vol.88 (4), p.488-493

2011

Link zum Volltext

Verfügbarkeit prüfen

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

Human molecular genetics, 2014-12, Vol.23 (23), p.6356-6365

2014

Link zum Volltext

Verfügbarkeit prüfen

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Human mutation, 2015-01, Vol.36 (1), p.34-38

2015

Link zum Volltext

Verfügbarkeit prüfen

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

Human molecular genetics, 2013-02, Vol.22 (4), p.656-667

2013

Link zum Volltext

Verfügbarkeit prüfen

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

Nucleic acids research, 2012-05, Vol.40 (9), p.4040

2012

Link zum Volltext

Verfügbarkeit prüfen

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

Molecular genetics and metabolism, 2017-03, Vol.120 (3), p.243-246

2017

Link zum Volltext

Verfügbarkeit prüfen

Blue native electrophoresis to study mitochondrial complex I in C. elegans

Analytical biochemistry, 2010-12, Vol.407 (2), p.287-289

2010

Link zum Volltext

Verfügbarkeit prüfen

Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans

Mitochondrion, 2012-05, Vol.12 (3), p.399-405

2012

Link zum Volltext

Verfügbarkeit prüfen

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1273-1277

2017

Link zum Volltext

Verfügbarkeit prüfen

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

Genes & development, 2007-03, Vol.21 (5), p.615-624

2007

Link zum Volltext

Verfügbarkeit prüfen

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant

The Journal of pediatrics, 2018-05, Vol.196, p.309-313.e3

2018

Link zum Volltext

Verfügbarkeit prüfen

NOA1 is an essential GTPase required for mitochondrial protein synthesis

Molecular biology of the cell, 2011-01, Vol.22 (1), p.1-11

2011

Link zum Volltext

Verfügbarkeit prüfen

Functional consequences of mitochondrial tRNA and tRNA mutations causing combined OXPHOS defects

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.324-329

2010

Link zum Volltext

Verfügbarkeit prüfen

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

Biochimica et biophysica acta, 2012-02, Vol.1822 (2), p.168-175

2012

Link zum Volltext

Verfügbarkeit prüfen

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

Cell metabolism, 2010-09, Vol.12 (3), p.283-294

2010

Link zum Volltext

Verfügbarkeit prüfen

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity

Human molecular genetics, 2012-01, Vol.21 (1), p.115-120

2012

Link zum Volltext

Verfügbarkeit prüfen

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

Journal of medical genetics, 2011-11, Vol.48 (11), p.737-740

2011

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 39

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(39)
Mit Volltextzugriff
(38)

Publikationsform

Artikel
(38)
Buchkapitel
(1)

Sprache

Englisch
(39)
Japanisch
(7)

Erscheinungsjahr

n.n

Thema

Science & Technology
(29)
Life Sciences & Biomedicine
(28)
Humans
(25)
Genetics & Heredity
(19)
Mutation
(13)
Mitochondrial Proteins - Genetics
(12)
Female
(11)
Amino Acid Sequence
(10)
Biochemistry & Molecular Biology
(10)
Male
(10)
Mitochondria - Metabolism
(10)
Molecular Sequence Data
(10)
Animals
(8)
Electron Transport Complex I - Genetics
(8)
Fibroblasts
(8)
Infant
(8)
Infant, Newborn
(8)
Mitochondrial Dna
(8)
Electron Transport Complex I - Metabolism
(7)
Homozygote
(7)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

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

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

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

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

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

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

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

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

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Blue native electrophoresis to study mitochondrial complex I in C. elegans

Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant

NOA1 is an essential GTPase required for mitochondrial protein synthesis

Functional consequences of mitochondrial tRNA and tRNA mutations causing combined OXPHOS defects

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

Suchergebnisse filtern