(Q38549163)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26185144%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

title

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy (English)

1 reference

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19 February 2020

15

1 reference

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19 February 2020

5

Jane Juusola

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26185144%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

author name string

Wendy K Chung

1

1 reference

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19 February 2020

Kimberly Martin

2

1 reference

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19 February 2020

Chaim Jalas

3

1 reference

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19 February 2020

Stephen R Braddock

4

1 reference

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19 February 2020

Kristin G Monaghan

6

1 reference

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19 February 2020

Barbara Warner

7

1 reference

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19 February 2020

Samuel Franks

8

1 reference

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19 February 2020

Marc Yudkoff

9

1 reference

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19 February 2020

Lauren Lulis

10

1 reference

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19 February 2020

Roy H Rhodes

11

1 reference

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19 February 2020

Vinay Prasad

12

1 reference

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19 February 2020

Erin Torti

13

1 reference

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19 February 2020

Megan T Cho

14

1 reference

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19 February 2020

language of work or name

English

0 references

publication date

16 July 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26185144%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

19 February 2020

published in

1 reference

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19 February 2020

volume

52

1 reference

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19 February 2020

issue

9

1 reference

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19 February 2020

page(s)

627-635

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26185144%20AND%20SRC:MED&resulttype=core&format=json

Exome sequencing as a tool for Mendelian disease gene discovery

19 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Targeted exome sequencing of suspected mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Disorders of mitochondrial function

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

The Mitochondrial Proteome and Human Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Current molecular diagnostic algorithm for mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Strategies for treating mitochondrial disorders: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Endogenous synthesis of coenzyme Q in eukaryotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Genetics of coenzyme q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

The regulation of coenzyme q biosynthesis in eukaryotic cells: all that yeast can tell us.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Progress in understanding 2-hydroxyglutaric acidurias

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Mechanisms of mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Mitochondrial control of cellular life, stress, and death

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

Coenzyme Q10: absorption, tissue uptake, metabolism and pharmacokinetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103140

10.1136/JMEDGENET-2015-103140

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26185144%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

1 reference