(Q24669541)

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

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scholarly article

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders (English)

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phosphorylation

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based on heuristic

inferred from title

Dominique Chrétien

5

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10

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9

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author name string

Julie Mollet

1

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Irina Giurgea

2

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Dimitri Schlemmer

3

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Gustav Dallner

4

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Agnès Delahodde

6

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Delphine Bacq

7

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Pascale de Lonlay

8

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language of work or name

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publication date

March 2007

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Journal of Clinical Investigation

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117

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3

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765-72

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A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

1 reference

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7 April 2017

Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ

1 reference

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1 reference

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1 reference

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Genetic evidence for a multi-subunit complex in coenzyme Q biosynthesis in yeast and the role of the Coq1 hexaprenyl diphosphate synthase

1 reference

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Improved method for high efficiency transformation of intact yeast cells

1 reference

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Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

1 reference

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Elucidation of the deficiency in two yeast coenzyme Q mutants. Characterization of the structural gene encoding hexaprenyl pyrophosphate synthetase

1 reference

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

1 reference

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Metabolism and function of coenzyme Q.

1 reference

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Coenzyme Q-responsive Leigh's encephalopathy in two sisters

1 reference

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Structure, mechanism and function of prenyltransferases

1 reference

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

1 reference

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A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.

1 reference

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Arabidopsis thaliana contains two differentially expressed farnesyl-diphosphate synthase genes

1 reference

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28 September 2017

Yeast farnesyl-diphosphate synthase: site-directed mutagenesis of residues in highly conserved prenyltransferase domains I and II

1 reference

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28 September 2017

Cloning and nucleotide sequence of the ispA gene responsible for farnesyl diphosphate synthase activity in Escherichia coli

1 reference

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The Neurospora crassa carotenoid biosynthetic gene (albino 3) reveals highly conserved regions among prenyltransferases

1 reference

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28 September 2017

Effect of site-directed mutagenesis of conserved aspartate and arginine residues upon farnesyl diphosphate synthase activity.

1 reference

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28 September 2017

Cerebellar ataxia and coenzyme Q10 deficiency

1 reference

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30 May 2018

Coq3 and Coq4 define a polypeptide complex in yeast mitochondria for the biosynthesis of coenzyme Q.

1 reference

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28 November 2018

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

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Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

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Identification of significant residues in the substrate binding site of Bacillus stearothermophilus farnesyl diphosphate synthase

1 reference

https://pubmed.ncbi.nlm.nih.gov/17332895

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17332895

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relationship of dolichol synthesis to glycoprotein synthesis during embryonic development

1 reference

https://pubmed.ncbi.nlm.nih.gov/17332895

12 December 2020

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inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17332895

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal presentation of coenzyme Q10 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17332895

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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