(Q43047012)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Joaquín Arenas

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Miguel Angel Martín

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Cristina Ugalde

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

3

M Carmen Gil-Borlado

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

6

Sara Seneca

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

author name string

María Morán

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Lorena Marín-Buera

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Henry Rivera

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

María Vázquez-López

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

publication date

1 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

volume

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

page(s)

930-941

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20518024%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.

4 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

Superoxide production is inversely related to complex I activity in inherited complex I deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

On the mechanism of electron transfer in complex iii of the electron transfer chain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Ultrastructure of the mitochondrion and its bearing on function and bioenergetics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Respiratory-chain diseases related to complex III deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Phylogenetic analysis of AAA proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Modulation of mitochondrial morphology by bioenergetics defects in primary human fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Genome-wide RNAi screen identifies Letm1 as a mitochondrial Ca2+/H+ antiporter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

The mitochondrial respiratory chain is a modulator of apoptosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Blue Native electrophoresis to study mitochondrial and other protein complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in theBCS1Lgene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Efficient execution of cell death in non-glycolytic cells requires the generation of ROS controlled by the activity of mitochondrial H+-ATP synthase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Mitochondrial dynamics and apoptosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Free radicals and antioxidants in normal physiological functions and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

Crystal structure of the cytochrome bc1 complex from bovine heart mitochondria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21294

7 January 2021