(Q48008156)

English

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.

scientific article published on 30 December 2016

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scholarly article

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4 April 2020

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly (English)

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4 April 2020

Alican J Erdogan

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4 April 2020

Curtis R Coughlin Ii

3

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4 April 2020

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Marisa W Friederich

1

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4 April 2020

Mihret T Elos

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4 April 2020

Hua Jiang

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4 April 2020

Courtney P O'Rourke

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4 April 2020

Mark A Lovell

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4 April 2020

Eric Wartchow

8

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4 April 2020

Katherine Gowan

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4 April 2020

Kathryn C Chatfield

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4 April 2020

Wallace S Chick

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4 April 2020

Elaine B Spector

12

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4 April 2020

Johan L K Van Hove

13

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4 April 2020

Jan Riemer

14

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4 April 2020

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1 February 2017

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4 April 2020

Human Molecular Genetics

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4 April 2020

26

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4 April 2020

4

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4 April 2020

702-716

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4 April 2020

describes a project that uses

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6251674/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Biochemical diagnosis of mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Clinical and molecular findings in children with complex I deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Complex I deficiency: clinical features, biochemistry and molecular genetics

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mitochondrial complex I: structure, function and pathology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mitochondrial complex I-linked disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mitochondrial complex I.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Energy converting NADH:quinone oxidoreductase (complex I).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Functional modules and structural basis of conformational coupling in mitochondrial complex I.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Conformation-driven and semiquinone-gated proton-pump mechanism in the NADH-ubiquinone oxidoreductase (complex I).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Functional dissection of the proton pumping modules of mitochondrial complex I

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Assembly of mitochondrial complex I and defects in disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Human mitochondrial complex I assembly: a dynamic and versatile process

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Understanding mitochondrial complex I assembly in health and disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Genome-wide analysis of eukaryotic twin CX9C proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

The Ca(2+)-Dependent Release of the Mia40-Induced MICU1-MICU2 Dimer from MCU Regulates Mitochondrial Ca(2+) Uptake

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Increased variation in mtDNA in patients with familial sensorineural hearing impairment

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Disulfide formation in the ER and mitochondria: two solutions to a common process.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Importing mitochondrial proteins: machineries and mechanisms

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Essential role of Mia40 in import and assembly of mitochondrial intermembrane space proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Identification of Tim40 that mediates protein sorting to the mitochondrial intermembrane space

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Atp23 biogenesis reveals a chaperone-like folding activity of Mia40 in the IMS of mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Human copper chaperone for superoxide dismutase 1 mediates its own oxidation-dependent import into mitochondria.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Respiratory chain enzyme analysis in muscle and liver.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Accessory subunits are integral for assembly and function of human mitochondrial complex I.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Tracing the evolution of a large protein complex in the eukaryotes, NADH:ubiquinone oxidoreductase (Complex I).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

A forward genetic screen identifies mutants deficient for mitochondrial complex I assembly in Chlamydomonas reinhardtii.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Preservation of NADH ubiquinone-oxidoreductase activity by Src kinase-mediated phosphorylation of NDUFB10.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Architecture of mammalian respiratory complex I.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Structure of mammalian respiratory complex I

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Structure of subcomplex Iβ of mammalian respiratory complex I leads to new supernumerary subunit assignments

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Loss of apoptosis-inducing factor critically affects MIA40 function.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Kinetic control by limiting glutaredoxin amounts enables thiol oxidation in the reducing mitochondrial intermembrane space.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW431

21 January 2018

Mouse redox histology using genetically encoded probes

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21 January 2018

In vivo mapping of hydrogen peroxide and oxidized glutathione reveals chemical and regional specificity of redox homeostasis.

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21 January 2018

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

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21 January 2018

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

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21 January 2018

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21 January 2018

Two-dimensional blue native/blue native polyacrylamide gel electrophoresis for the characterization of mitochondrial protein complexes and supercomplexes.

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21 January 2018

Mitochondrial disulfide bond formation is driven by intersubunit electron transfer in Erv1 and proofread by glutathione

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Inactivation of genes encoding subunits of the peripheral and membrane arms of neurospora mitochondrial complex I and effects on enzyme assembly.

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12 December 2020

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Identifiers

10.1093/HMG/DDW431

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28040730%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

PMC publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28040730%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28040730%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

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