Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. (Q40826733)

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17 February 2020

case report

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title

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid (English)

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17 February 2020

1

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17 February 2020

Arnaud Mourier

4

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17 February 2020

Camilla Maffezzini

6

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17 February 2020

Anna Wredenberg

17

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17 February 2020

author name string

Henrik Stranneheim

2

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17 February 2020

Karin Naess

3

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17 February 2020

Andrea Felser

5

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17 February 2020

Nicole Lesko

7

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17 February 2020

Helene Bruhn

8

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17 February 2020

Martin Engvall

9

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17 February 2020

Rolf Wibom

10

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17 February 2020

Michela Barbaro

11

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17 February 2020

Yvonne Hinze

12

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17 February 2020

Måns Magnusson

13

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17 February 2020

Robin Andeer

14

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17 February 2020

Rolf H Zetterström

15

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17 February 2020

Ulrika von Döbeln

16

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17 February 2020

Anna Wedell

18

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17 February 2020

language of work or name

English

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publication date

17 June 2015

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Journal of Medical Genetics

17 February 2020

published in

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17 February 2020

volume

52

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17 February 2020

issue

11

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17 February 2020

page(s)

779-783

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Mitochondrial function and lifespan of mice with controlled ubiquinone biosynthesis

17 February 2020

cites work

1 reference

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24 September 2017

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Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis

24 September 2017

1 reference

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Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

24 September 2017

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The molecular genetics of coenzyme Q biosynthesis in health and disease.

24 September 2017

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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

24 September 2017

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Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.

24 September 2017

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Overexpression of the Coq8 kinase in Saccharomyces cerevisiae coq null mutants allows for accumulation of diagnostic intermediates of the coenzyme Q6 biosynthetic pathway

24 September 2017

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Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice.

24 September 2017

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Coenzyme Q biosynthesis: Coq6 is required for the C5-hydroxylation reaction and substrate analogs rescue Coq6 deficiency

24 September 2017

1 reference

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

24 September 2017

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The Aging-Associated Enzyme CLK-1 Is a Member of the Carboxylate-Bridged Diiron Family of Proteins

24 September 2017

1 reference

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Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

24 September 2017

1 reference

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A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

24 September 2017

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

24 September 2017

1 reference

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COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

24 September 2017

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Endogenous synthesis of coenzyme Q in eukaryotes

24 September 2017

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Infantile and pediatric quinone deficiency diseases

24 September 2017

1 reference

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Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd mice

24 September 2017

1 reference

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Metabolism and function of coenzyme Q.

24 September 2017

2 references

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24 September 2017

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A new member of the family of di-iron carboxylate proteins. Coq7 (clk-1), a membrane-bound hydroxylase involved in ubiquinone biosynthesis

21 January 2018

1 reference

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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

24 September 2017

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The COQ7 gene encodes a protein in saccharomyces cerevisiae necessary for ubiquinone biosynthesis

24 September 2017

1 reference

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An inherited kidney disease of mice resembling human nephronophthisis

24 September 2017

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Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

24 September 2017

1 reference

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Role of the isoprenyl tail of ubiquinone in reaction with respiratory enzymes: studies with bovine heart mitochondrial complex I and Escherichia coli bo-type ubiquinol oxidase

17 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26084283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ubiquinol-10 ameliorates mitochondrial encephalopathy associated with CoQ deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26084283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2015-102986

1 reference

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17 February 2020

1 reference

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17 February 2020

PubMed publication ID

26084283

1 reference