Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. (Q38549163)

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19 February 2020

title

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

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15

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5

Jane Juusola

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19 February 2020

author name string

Wendy K Chung

1

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Kimberly Martin

2

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Chaim Jalas

3

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Stephen R Braddock

4

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Kristin G Monaghan

6

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Barbara Warner

7

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Samuel Franks

8

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Marc Yudkoff

9

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Lauren Lulis

10

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Roy H Rhodes

11

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Vinay Prasad

12

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Erin Torti

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Megan T Cho

14

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language of work or name

English

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publication date

16 July 2015

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Journal of Medical Genetics

19 February 2020

published in

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volume

52

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issue

9

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page(s)

627-635

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Exome sequencing as a tool for Mendelian disease gene discovery

19 February 2020

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Strategies for treating mitochondrial disorders: an update

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Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q synthesis

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Endogenous synthesis of coenzyme Q in eukaryotes

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

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Genetics of coenzyme q10 deficiency

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

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Heterogeneity of coenzyme Q10 deficiency: patient study and literature review

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

21 January 2018

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

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

21 January 2018

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Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

21 January 2018

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Progress in understanding 2-hydroxyglutaric acidurias

21 January 2018

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

21 January 2018

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Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency

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Mechanisms of mitochondrial diseases

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Mitochondrial control of cellular life, stress, and death

21 January 2018

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

21 January 2018

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

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Coenzyme Q10: absorption, tissue uptake, metabolism and pharmacokinetics

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10.1136/JMEDGENET-2015-103140

21 January 2018

Identifiers

DOI

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19 February 2020

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