Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. (Q37698410)

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24 January 2020

title

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency (English)

1 reference

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24 January 2020

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Angeles Rodriguez-Hernandez

3

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24 January 2020

Matteo Cassina

7

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24 January 2020

Sabrina Sacconi

11

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24 January 2020

Orsetta Zuffardi

13

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24 January 2020

C Santos-Ocaña

18

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24 January 2020

author name string

Leonardo Salviati

1

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Eva Trevisson

2

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24 January 2020

Alberto Casarin

4

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24 January 2020

Vanessa Pertegato

5

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24 January 2020

Mara Doimo

6

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24 January 2020

Caterina Agosto

8

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24 January 2020

Maria Andrea Desbats

9

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Geppo Sartori

10

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Luigi Memo

12

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Rafael Artuch

14

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Catarina Quinzii

15

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24 January 2020

Salvatore Dimauro

16

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Michio Hirano

17

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24 January 2020

Plácido Navas

19

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24 January 2020

language of work or name

English

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publication date

1 March 2012

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Journal of Medical Genetics

24 January 2020

published in

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24 January 2020

volume

49

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24 January 2020

page(s)

187-191

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24 January 2020

issue

3

1 reference

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Coenzyme Q deficiency in muscle

24 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Haploinsufficiency and the sex chromosomes from yeasts to humans.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Supplemental ubiquinol in patients with advanced congestive heart failure

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Early mitochondrial dysfunction in long-lived Mclk1+/- mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3983946

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22368301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22368301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22368301

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2011-100394

1 reference

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24 January 2020

1 reference

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24 January 2020

1 reference

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