Mutations inCOQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
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Title
Mutations inCOQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 52, Issue 9, Pages 627-635
Publisher
BMJ
Online
2015-08-21
DOI
10.1136/jmedgenet-2015-103140
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Note: Only part of the references are listed.- COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
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- Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
- (2014) Robert W. Taylor et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency
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- Progress in understanding 2-hydroxyglutaric acidurias
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- Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency
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- Mechanisms of mitochondrial diseases
- (2011) Emil Ylikallio et al. ANNALS OF MEDICINE
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- The Mitochondrial Proteome and Human Disease
- (2010) Sarah E. Calvo et al. Annual Review of Genomics and Human Genetics
- The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1
- (2010) Ingmar Blümcke et al. EPILEPSIA
- Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency
- (2010) Catarina M. Quinzii et al. FASEB JOURNAL
- Current molecular diagnostic algorithm for mitochondrial disorders
- (2010) Lee-Jun C. Wong et al. MOLECULAR GENETICS AND METABOLISM
- Calcium and ATP handling in human NADH:Ubiquinone oxidoreductase deficiency
- (2009) Federica Valsecchi et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Disorders of mitochondrial function
- (2009) François-Guillaume Debray et al. CURRENT OPINION IN PEDIATRICS
- Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis
- (2008) Alberto Casarin et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis
- (2008) Beth Marbois et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
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