Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations (Q35221744)

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23 December 2019

case report

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title

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

1 reference

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23 December 2019

1 reference

1

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23 December 2019

Tomotake Kanki

4

1 reference

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23 December 2019

Richard J Rodenburg

5

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23 December 2019

author name string

Markus Schuelke

2

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23 December 2019

Catarina M Quinzii

3

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23 December 2019

Ali Naini

6

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23 December 2019

Salvatore Dimauro

7

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23 December 2019

Michio Hirano

8

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23 December 2019

language of work or name

English

0 references

publication date

27 October 2006

1 reference

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American Journal of Human Genetics

23 December 2019

published in

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23 December 2019

volume

79

1 reference

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23 December 2019

issue

6

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23 December 2019

page(s)

1125-1129

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

23 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Biosynthesis, bioproduction and novel roles of ubiquinone

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Metabolism and function of coenzyme Q.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Cerebellar ataxia and coenzyme Q10 deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Coenzyme Q10 deficiency and isolated myopathy.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Primary coenzyme Q10 deficiency and the brain.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Fission yeast decaprenyl diphosphate synthase consists of Dps1 and the newly characterized Dlp1 protein in a novel heterotetrameric structure

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Detecting polymorphisms and mutations in candidate genes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698707

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17186472

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neonatal presentation of coenzyme Q10 deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17186472

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17186472

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/510023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186472%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17186472%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference