UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 27

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

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

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

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

TMEM70 functions in the assembly of complexes I and V

Biochimica et biophysica acta. Bioenergetics, 2020-08, Vol.1861 (8), p.148202-148202, Article 148202

2020

Link zum Volltext

Verfügbarkeit prüfen

New mitochondrial tRNAHIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)

Mitochondrion, 2011-09, Vol.11 (5), p.778-782

2011

Link zum Volltext

Verfügbarkeit prüfen

Complex I assembly factor TMEM126B mutations result in muscle weakness and isolated complex I deficiency

Biochimica et biophysica acta. Bioenergetics, 2016-08, Vol.1857, p.e31-e32

2016

Link zum Volltext

Verfügbarkeit prüfen

NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4−/− mice and Leigh syndrome patients: A stabilizing role for NDUFAF2

Biochimica et biophysica acta. Bioenergetics, 2020-08, Vol.1861 (8), p.148213-148213, Article 148213

2020

Link zum Volltext

Verfügbarkeit prüfen

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

European journal of human genetics : EJHG, 2009-10, Vol.18 (3), p.324-329

2009

Link zum Volltext

Verfügbarkeit prüfen

New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)

Mitochondrion, 2011-09, Vol.11 (5), p.778-782

2011

Link zum Volltext

Verfügbarkeit prüfen

Functional consequences of mitochondrial tRNA Trp and tRNA Arg 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

New mitochondrial tRNA super(HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS))

Mitochondrion, 2011-09, Vol.11 (5), p.778-782

2011

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 27

Suche als RSS-Feed

Aktive Filter

KollektionJournals@Ovid Complete

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(27)
Mit Volltextzugriff
(27)

Publikationsform

Artikel
(27)

Sprache

Englisch
(27)
Japanisch
(6)

Erscheinungsjahr

n.n

Thema

Science & Technology
(19)
Life Sciences & Biomedicine
(18)
Humans
(17)
Genetics & Heredity
(11)
Female
(8)
Infant
(8)
Male
(8)
Mitochondria - Metabolism
(8)
Mutation
(8)
Amino Acid Sequence
(7)
Mitochondrial Proteins - Genetics
(7)
Molecular Sequence Data
(7)
Animals
(6)
Biochemistry & Molecular Biology
(6)
Complex I
(6)
Electron Transport Complex I - Genetics
(6)
Electron Transport Complex I - Metabolism
(6)
Mitochondrial Diseases - Genetics
(6)
Oxidative Phosphorylation
(6)
Cell Biology
(5)

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

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

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

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

TMEM70 functions in the assembly of complexes I and V

New mitochondrial tRNAHIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)

Complex I assembly factor TMEM126B mutations result in muscle weakness and isolated complex I deficiency

NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4−/− mice and Leigh syndrome patients: A stabilizing role for NDUFAF2

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)

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

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

New mitochondrial tRNA super(HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS))

Aktive Filter

Suchergebnisse filtern