Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Iain Hargreaves"'
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Autor:
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis
Externí odkaz:
https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb
Autor:
Carmine Staiano, Laura García-Corzo, David Mantle, Nadia Turton, Lauren E. Millichap, Gloria Brea-Calvo, Iain Hargreaves
Publikováno v:
Antioxidants, Vol 12, Iss 7, p 1469 (2023)
Originally identified as a key component of the mitochondrial respiratory chain, Coenzyme Q (CoQ or CoQ10 for human tissues) has recently been revealed to be essential for many different redox processes, not only in the mitochondria, but elsewhere wi
Externí odkaz:
https://doaj.org/article/e5d0eac4d3374f2e8de82b8369f849b0
Autor:
Ilenia Cirilli, Elisabetta Damiani, Phiwayinkosi Vusi Dludla, Iain Hargreaves, Fabio Marcheggiani, Lauren Elizabeth Millichap, Patrick Orlando, Sonia Silvestri, Luca Tiano
Publikováno v:
Antioxidants, Vol 10, Iss 8, p 1325 (2021)
The present review focuses on preclinical and clinical studies conducted in the last decade that contribute to increasing knowledge on Coenzyme Q10’s role in health and disease. Classical antioxidant and bioenergetic functions of the coenzyme have
Externí odkaz:
https://doaj.org/article/ff838823372d49428158c3a0c5f13c40
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 18, p 6695 (2020)
Coenzyme Q10 (CoQ10) has a number of vital functions in all cells, both mitochondrial and extramitochondrial. In addition to its key role in mitochondrial oxidative phosphorylation, CoQ10 serves as a lipid soluble antioxidant, plays an important role
Externí odkaz:
https://doaj.org/article/f1a4a0e22f904026878a895846e7f034
Autor:
Karolina M. Stepien, Federico Roncaroli, Nadia Turton, Christian J. Hendriksz, Mark Roberts, Robert A. Heaton, Iain Hargreaves
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 8, p 2596 (2020)
Mitochondrial dysfunction is emerging as an important contributory factor to the pathophysiology of lysosomal storage disorders (LSDs). The cause of mitochondrial dysfunction in LSDs appears to be multifactorial, although impaired mitophagy and oxida
Externí odkaz:
https://doaj.org/article/c0ad71572dab44ccb9a6096a74d2e4b0
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 6, p 1923 (2020)
Coenzyme Q10 (CoQ10) deficiency currently represents the only treatable mitochondrial disorder, however, little is known about how it may affect other organelles. The lysosome has been found to have a large concentration of CoQ10 localised at its mem
Externí odkaz:
https://doaj.org/article/0330323067704bb59e55f7c3bad3db62
Autor:
Alex Dyson, Felipe Dal-Pizzol, Giovanni Sabbatini, Anna B Lach, Federica Galfo, Juliano Dos Santos Cardoso, Bruna Pescador Mendonça, Iain Hargreaves, Bernardo Bollen Pinto, Daniel I Bromage, John F Martin, Kevin P Moore, Martin Feelisch, Mervyn Singer
Publikováno v:
PLoS Medicine, Vol 14, Iss 7, p e1002310 (2017)
BackgroundEarly revascularization of ischemic organs is key to improving outcomes, yet consequent reperfusion injury may be harmful. Reperfusion injury is largely attributed to excess mitochondrial production of reactive oxygen species (ROS). Sulfide
Externí odkaz:
https://doaj.org/article/f87e5bf9296f4a67b74dc1c7fd7a6334
Autor:
Viruna Neergheen MSc, Annapurna Chalasani MSc, Luke Wainwright MSci, MRes, Delia Yubero PhD, Raquel Montero PhD, Rafael Artuch MD, PhD, Iain Hargreaves PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Currently, there is a paucity of available treatment strategies for oxidative phosphorylation disorders. Coenzyme Q 10 (CoQ 10 ) and related synthetic quinones are the only agents to date that have proven to be beneficial in the treatment of these he
Externí odkaz:
https://doaj.org/article/8bcdc08130f642f192ba0032932da67d
Autor:
David Mantle, Iain Hargreaves
Publikováno v:
Antioxidants, Vol 8, Iss 2, p 44 (2019)
Longevity is determined by a number of factors, including genetic, environmental and lifestyle factors. A major factor affecting longevity is the development of degenerative disorders such as cardiovascular disease, diabetes, kidney disease and liver
Externí odkaz:
https://doaj.org/article/9bf967c465ae41f6997ccb5441f3e604
Autor:
Kira M. Holmström, Liam Baird, Ying Zhang, Iain Hargreaves, Annapurna Chalasani, John M. Land, Lee Stanyer, Masayuki Yamamoto, Albena T. Dinkova-Kostova, Andrey Y. Abramov
Publikováno v:
Biology Open, Vol 2, Iss 8, Pp 761-770 (2013)
Summary Transcription factor Nrf2 and its repressor Keap1 regulate a network of cytoprotective genes involving more than 1% of the genome, their best known targets being drug-metabolizing and antioxidant genes. Here we demonstrate a novel role for th
Externí odkaz:
https://doaj.org/article/26dac259a99f41a389e0e6b0bb732556