Journal ArticleDOI
Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations.
TLDR
In this article, a compilation of all the symptoms and patients with primary CoQ deficiency described in the literature so far and analyse the most common clinical manifestations associated with pathogenic variants identified in the different COQ genes.About:
This article is published in Free Radical Biology and Medicine.The article was published on 2021-03-04. It has received 22 citations till now.read more
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Journal ArticleDOI
The assembly, regulation and function of the mitochondrial respiratory chain.
TL;DR: A review of the latest assembly models for each individual complex, and also highlight the recent discoveries indicating that the formation of larger assemblies, known as respiratory supercomplexes, originates from the association of the intermediates of individual complexes is discussed in this article.
Journal ArticleDOI
Coenzyme Q Biosynthesis: An Update on the Origins of the Benzenoid Ring and Discovery of New Ring Precursors.
TL;DR: In this paper, stable isotope labeling has been used to delineate the biosynthetic pathways leading to CoQ in E. coli, yeast, and plant and animal cells.
Journal ArticleDOI
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
TL;DR: In this paper , the authors studied a patient from Turkey and identified and characterized a new mutation in the CoQ10 biosynthetic gene COQ7 (c.161G > A; p.Arg54Gln).
Journal ArticleDOI
Regulation of hepatic coenzyme Q biosynthesis by dietary omega-3 polyunsaturated fatty acids.
Lucía Fernández-del-Río,Sandra Rodríguez-López,Elena Gutiérrez-Casado,José A. González-Reyes,Catherine F. Clarke,M. I. Burón,José M. Villalba +6 more
TL;DR: In this paper, the ability of n-3 PUFAs to regulate CoQ biosynthesis, CoQ content, and the ratio between its isoforms, which might be relevant to better understand the health benefits associated with this type of fat.
Journal ArticleDOI
Genetic screening reveals phospholipid metabolism as a key regulator of the biosynthesis of the redox-active lipid coenzyme Q.
Anita Ayer,Anita Ayer,Daniel J. Fazakerley,Daniel J. Fazakerley,Cacang Suarna,Cacang Suarna,Ghassan J. Maghzal,Diba Sheipouri,Kevin J. Lee,Michelle C. Bradley,Lucía Fernández-del-Río,Sergey Tumanov,Sergey Tumanov,Stephanie M Y Kong,Stephanie M Y Kong,Jelske N. van der Veen,Andrian Yang,Andrian Yang,Joshua W. K. Ho,Steven Clarke,David E. James,Ian W. Dawes,Dennis E. Vance,Catherine F. Clarke,René L. Jacobs,Roland Stocker +25 more
TL;DR: In this paper, a quantitative high-throughput method was developed to determine CoQ concentrations in yeast cells, which revealed a previously unrecognized relationship between two spatially distinct lipid pathways with potential implications for the treatment of CoQ deficiencies, mitochondrial oxidative stress/dysfunction and associated diseases.
References
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Regulation of the mevalonate pathway.
TL;DR: The mevalonate pathway produces isoprenoids that are vital for diverse cellular functions, ranging from cholesterol synthesis to growth control, and could be useful in treating certain forms of cancer as well as heart disease.
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Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2
TL;DR: PolyPhen‐2 (Polymorphism Phenotyping v2), available as software and via a Web server, predicts the possible impact of amino acid substitutions on the stability and function of human proteins using structural and comparative evolutionary considerations.
Journal ArticleDOI
Reactive oxygen species, antioxidants, and the mammalian thioredoxin system.
Jonas Nordberg,Elias S.J. Arnér +1 more
TL;DR: The TrxR-catalyzed regeneration of several antioxidant compounds, including ascorbic acid (vitamin C), selenium-containing substances, lipoic acid, and ubiquinone are summarized.
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CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch,Daniela Witten,Gregory M. Cooper,Jay Shendure,Martin Kircher,Martin Kircher +5 more
TL;DR: The latest updates to CADD are reviewed, including the most recent version, 1.4, which supports the human genome build GRCh38, and also present updates to the website that include simplified variant lookup, extended documentation, an Application Program Interface and improved mechanisms for integrating CADD scores into other tools or applications.
Journal ArticleDOI
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
Jennifer C. Darnell,Sarah J. Van Driesche,Chaolin Zhang,Ka Ying Sharon Hung,Aldo Mele,Claire E. Fraser,Elizabeth F. Stone,Cynthia Chen,John J. Fak,Sung Wook Chi,Donny D. Licatalosi,Joel D. Richter,Robert B. Darnell,Robert B. Darnell +13 more
TL;DR: A brain polyribosome-programmed translation system is developed, revealing that FMRP reversibly stalls ribosomes specifically on its target mRNAs and suggests multiple targets for clinical intervention in FXS and ASD.