Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. (Q43047012)

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4 February 2020

title

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

1 reference

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4 February 2020

1 reference

5

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4 February 2020

Joaquín Arenas

8

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4 February 2020

Miguel Angel Martín

9

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4 February 2020

Cristina Ugalde

10

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4 February 2020

3

M Carmen Gil-Borlado

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4 February 2020

6

Sara Seneca

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4 February 2020

author name string

María Morán

1

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4 February 2020

Lorena Marín-Buera

2

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4 February 2020

Henry Rivera

4

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4 February 2020

María Vázquez-López

7

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publication date

1 August 2010

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4 February 2020

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4 February 2020

volume

31

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4 February 2020

page(s)

930-941

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4 February 2020

issue

8

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

4 February 2020

cites work

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

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

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

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

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

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

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

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7 January 2021

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

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The mitochondrial respiratory chain is a modulator of apoptosis.

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

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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

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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