A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency (Q24540570)

ubiquinone biosynthetic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

Catarina Quinzii

1

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Ali Naini

2

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Leonardo Salviati

3

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Eva Trevisson

4

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Placido Navas

5

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Salvatore Dimauro

6

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Michio Hirano

American Journal of Human Genetics

7

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language of work or name

English

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publication date

February 2006

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published in

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volume

78

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issue

2

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page(s)

345-9

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cites work

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Protein measurement with the Folin phenol reagent

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The Saccharomyces cerevisiae COQ6 Gene Encodes a Mitochondrial Flavin-dependent Monooxygenase Required for Coenzyme Q Biosynthesis

24 March 2017

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

24 March 2017

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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

24 March 2017

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Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

24 March 2017

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Chemotherapy induces an increase in coenzyme Q10 levels in cancer cell lines.

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Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

27 September 2017

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Metabolism and function of coenzyme Q.

27 September 2017

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Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

27 September 2017

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Coenzyme Q-responsive Leigh's encephalopathy in two sisters

27 September 2017

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Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress

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Phenotypes of fission yeast defective in ubiquinone production due to disruption of the gene for p-hydroxybenzoate polyprenyl diphosphate transferase

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

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

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Proteinuria in passive Heymann nephritis is associated with lipid peroxidation and formation of adducts on type IV collagen

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Nonaprenyl-4-hydroxybenzoate transferase, an enzyme involved in ubiquinone biosynthesis, in the endoplasmic reticulum-Golgi system of rat liver

27 September 2017

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Cerebellar ataxia and coenzyme Q10 deficiency

27 September 2017

1 reference

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Antioxidant effects of ubiquinones in microsomes and mitochondria are mediated by tocopherol recycling

30 May 2018

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Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

30 May 2018

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Progression despite replacement of a myopathic form of coenzyme Q10 defect

29 November 2018

1 reference

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Primary coenzyme Q10 deficiency and the brain.

29 November 2018

1 reference

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Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

29 November 2018

1 reference

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Coenzyme Q is an obligatory cofactor for uncoupling protein function

29 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Neonatal presentation of coenzyme Q10 deficiency

1 reference

12 December 2020

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

1 reference

12 December 2020

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

1 reference

12 December 2020

Altered gene expression and functions of mitochondria in human nephrotic syndrome

1 reference

12 December 2020

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

12 December 2020

Identifiers

DOI

10.1086/500092

1 reference

476402

476402

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1 reference

1 reference