(Q28586216)

31 January 2017

title

The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy (English)

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31 January 2017

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GOA release 2020-03-11

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3

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Eskil Elmér

5

object named as

Eskil Elmér

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31 January 2017

Per Levéen

1

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31 January 2017

Heike Kotarsky

2

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31 January 2017

Riitta Karikoski

4

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31 January 2017

Vineta Fellman

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31 January 2017

language of work or name

English

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publication date

1 February 2011

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31 January 2017

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31 January 2017

volume

53

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31 January 2017

issue

2

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31 January 2017

page(s)

437–447

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The epidemiology of mitochondrial disorders--past, present and future

31 January 2017

cites work

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Mitochondrial hepatopathies: advances in genetics and pathogenesis

21 January 2018

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Mitochondrial disorders in the nervous system

21 January 2018

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Multisystem manifestations of mitochondrial disorders

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria

21 January 2018

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Activation of the human contact system on neutrophil extracellular traps.

21 January 2018

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Powerful cyclosporin inhibition of calcium-induced permeability transition in brain mitochondria

21 January 2018

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Capacity of oxidative phosphorylation in human skeletal muscle: new perspectives of mitochondrial physiology.

21 January 2018

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Architecture of the Qo site of the cytochrome bc1 complex probed by superoxide production

21 January 2018

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Respiratory-chain diseases related to complex III deficiency

21 January 2018

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The pathophysiology of mitochondrial disease as modeled in the mouse

21 January 2018

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Mouse models of oxidative phosphorylation dysfunction and disease

21 January 2018

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Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy

21 January 2018

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Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes

21 January 2018

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Pathophysiology and fate of hepatocytes in a mouse model of mitochondrial hepatopathies

21 January 2018

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Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency

21 January 2018

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Cytochrome c oxidase deficiency in neurons decreases both oxidative stress and amyloid formation in a mouse model of Alzheimer's disease

21 January 2018

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

21 January 2018

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Role of mitochondria in non-alcoholic fatty liver disease

21 January 2018

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Mitochondria in steatohepatitis

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Evolutionarily conserved mammalian adenine nucleotide translocase 4 is essential for spermatogenesis.

21 January 2018

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Effect of myxothiazol on Leydig cell steroidogenesis: inhibition of luteinizing hormone-mediated testosterone synthesis but stimulation of basal steroidogenesis

21 January 2018

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

21 January 2018

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Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases

21 January 2018

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

21 January 2018

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

21 January 2018

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Identification and characterization of cytochrome bc1 subcomplexes in mitochondria from yeast with single and double deletions of genes encoding cytochrome bc1 subunits

21 January 2018

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7 January 2021

Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation

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7 January 2021

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

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7 January 2021

PATHOLOGY OF LETHAL FETAL GROWTH RETARDATION SYNDROME WITH AMINOACIDURIA, IRON OVERLOAD, AND LACTIC ACIDOSIS (GRACILE)

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7 January 2021

Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant

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7 January 2021

Threshold effect and tissue specificity. Implication for mitochondrial cytopathies

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7 January 2021

Effect of 'binary mitochondrial heteroplasmy' on respiration and ATP synthesis: implications for mitochondrial diseases

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7 January 2021

Identifiers

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31 January 2017

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