(Q34614921)

3 August 2017

title

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy (English)

1 reference

3 August 2017

author

Erika Fernandez-Vizarra

object named as

Erika Fernandez-Vizarra

1

0 references

Paola Goffrini

object named as

Paola Goffrini

3

0 references

Massimo Zeviani

10

object named as

Massimo Zeviani

1 reference

3 August 2017

8

Graziella Uziel

1 reference

3 August 2017

Marianna Bugiani

2

1 reference

3 August 2017

Franco Carrara

4

1 reference

3 August 2017

Laura Farina

5

1 reference

3 August 2017

Elena Procopio

6

1 reference

3 August 2017

Alice Donati

7

1 reference

3 August 2017

Iliana Ferrero

9

1 reference

3 August 2017

language of work or name

1 reference

2 April 2007

1 reference

3 August 2017

published in

Human Molecular Genetics

1 reference

3 August 2017

volume

16

1 reference

3 August 2017

issue

10

1 reference

3 August 2017

page(s)

1241-1252

1 reference

Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

BCS1L is expressed in critical regions for neural development during ontogenesis in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Mitochondrial protein import: recognition of internal import signals of BCS1 by the TOM complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Further insights into the assembly of the yeast cytochrome bc1 complex based on analysis of single and double deletion mutants lacking supernumerary subunits and cytochrome b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

The cytochrome bc1 and cytochrome c oxidase complexes associate to form a single supracomplex in yeast mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Architecture of active mammalian respiratory chain supercomplexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Significance of respirasomes for the assembly/stability of human respiratory chain complex I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Respiratory complex III is required to maintain complex I in mammalian mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Cytochrome c oxidase is required for the assembly/stability of respiratory complex I in mouse fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

AAA+ proteins: have engine, will work

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

AAA proteins. Lords of the ring

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

AAA+ superfamily ATPases: common structure--diverse function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Clinical and molecular findings in children with complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Transformation of yeast by lithium acetate/single-stranded carrier DNA/polyethylene glycol method

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM072

21 January 2018

Identifiers

DOI

10.1093/HMG/DDM072

1 reference

3 August 2017

1 reference