Severe respiratory complex III defect prevents liver adaptation to prolonged fasting (Q46869930)

15 June 2018

title

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting (English)

1 reference

15 June 2018

author

Thomas Meitinger

9

1 reference

http://europepmc.org/abstract/MED/27151179

26 December 2017

Holger Prokisch

object named as

Holger Prokisch

14

0 references

Hélène Ogier de Baulny

12

object named as

Hélène Ogier de Baulny

1 reference

15 June 2018

7

Tobias B Haack

1 reference

15 June 2018

Tim M Strom

8

object named as

Tim M Strom

1 reference

15 June 2018

author name string

Laura S Kremer

1

1 reference

15 June 2018

Caroline L'hermitte-Stead

2

1 reference

15 June 2018

Pierre Lesimple

3

1 reference

15 June 2018

Mylène Gilleron

4

1 reference

15 June 2018

Sandrine Filaut

5

1 reference

15 June 2018

Claude Jardel

6

1 reference

15 June 2018

Hatem Azzouz

10

1 reference

15 June 2018

Neji Tebib

11

1 reference

15 June 2018

Guy Touati

13

1 reference

15 June 2018

Anne Lombès

15

1 reference

15 June 2018

publication date

2 May 2016

1 reference

15 June 2018

published in

Journal of Hepatology

1 reference

15 June 2018

volume

65

1 reference

15 June 2018

page(s)

377-385

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15 June 2018

issue

2

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15 June 2018

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

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16 June 2018

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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

16 June 2018

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16 June 2018

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A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

16 June 2018

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Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases

16 June 2018

1 reference

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LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Bcs1, a AAA protein of the mitochondria with a role in the biogenesis of the respiratory chain

16 June 2018

1 reference

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

16 June 2018

1 reference

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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

16 June 2018

1 reference

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Acute infantile liver failure due to mutations in the TRMU gene.

16 June 2018

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Conserved cysteine residues of GidA are essential for biogenesis of 5-carboxymethylaminomethyluridine at tRNA anticodon

16 June 2018

1 reference

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Biogenesis of the yeast cytochrome bc1 complex.

16 June 2018

1 reference

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Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

16 June 2018

1 reference

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

16 June 2018

1 reference

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

16 June 2018

1 reference

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

16 June 2018

1 reference

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Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

The mitochondrial proteome database: MitoP2.

15 August 2018

1 reference

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Mitochondrial diseases: molecular mechanisms, clinical presentations and diagnosis investigations

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Functional characterization of novel mutations in the human cytochrome b gene.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Impact on oxidative phosphorylation of immortalization with the telomerase gene

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5640785

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27151179

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial diseases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27151179

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27151179

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JHEP.2016.04.017

1 reference

15 June 2018

PMCID

5640785

1 reference

15 June 2018

PubMed ID

27151179

1 reference

15 June 2018