Zobrazeno 1 - 10
of 691
pro vyhledávání: '"Patrick F Chinnery"'
Autor:
Patrick F Chinnery, Rita Horvath, Nour Elkhateeb, Katherine Schon, Thiloka E Ratnaike, Angela Lochmüller, Christopher Gilmartin
Publikováno v:
BMJ Neurology Open, Vol 6, Iss 1 (2024)
Background We aimed to determine whether sodium valproate (VPA) should be contraindicated in all mitochondrial diseases, due to known VPA-induced severe hepatotoxicity in some mitochondrial diseases.Methods We systematically reviewed the published li
Externí odkaz:
https://doaj.org/article/fb5ec582cd4348f697749b386c6430fa
Autor:
Laura S Kremer, Lyuba V Bozhilova, Diana Rubalcava-Gracia, Roberta Filograna, Mamta Upadhyay, Camilla Koolmeister, Patrick F Chinnery, Nils-Göran Larsson
Publikováno v:
PLoS Genetics, Vol 19, Iss 1, p e1010573 (2023)
Mammalian mitochondrial DNA (mtDNA) is inherited uniparentally through the female germline without undergoing recombination. This poses a major problem as deleterious mtDNA mutations must be eliminated to avoid a mutational meltdown over generations.
Externí odkaz:
https://doaj.org/article/0fce94f1f4ba413a93b5b45de327a754
Autor:
Claudia Calabrese, Angela Pyle, Helen Griffin, Jonathan Coxhead, Rafiqul Hussain, Peter S Braund, Linxin Li, Annette Burgess, Patricia B Munroe, Louis Little, Helen R Warren, Claudia Cabrera, Alistair Hall, Mark J Caulfield, Peter M Rothwell, Nilesh J Samani, Gavin Hudson, Patrick F Chinnery
Publikováno v:
PLoS Genetics, Vol 18, Iss 4, p e1010068 (2022)
Mitochondria are implicated in the pathogenesis of cardiovascular diseases (CVDs) but the reasons for this are not well understood. Maternally-inherited population variants of mitochondrial DNA (mtDNA) which affect all mtDNA molecules (homoplasmic) a
Externí odkaz:
https://doaj.org/article/024869c07de9440983db87b9f466acd3
Autor:
Hannah Steele, Aurora Gomez‐Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 3, Pp n/a-n/a (2020)
Abstract Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open‐label observation
Externí odkaz:
https://doaj.org/article/2afb00dd500c48f4976c29a1434a3730
Publikováno v:
PLoS Genetics, Vol 14, Iss 5, p e1007364 (2018)
[This corrects the article DOI: 10.1371/journal.pgen.1007126.].
Externí odkaz:
https://doaj.org/article/e26f6ad3257c4f279096b9555a2c6f4d
Publikováno v:
PLoS Genetics, Vol 13, Iss 12, p e1007126 (2017)
Inherited mitochondrial DNA (mtDNA) mutations have emerged as a common cause of human disease, with mutations occurring multiple times in the world population. The clinical presentation of three pathogenic mtDNA mutations is strongly associated with
Externí odkaz:
https://doaj.org/article/a7b9f960a6764f9fb49cfd7039d5732d
Autor:
Thomas M Connor, Simon Hoer, Andrew Mallett, Daniel P Gale, Aurora Gomez-Duran, Viktor Posse, Robin Antrobus, Pablo Moreno, Marco Sciacovelli, Christian Frezza, Jennifer Duff, Neil S Sheerin, John A Sayer, Margaret Ashcroft, Michael S Wiesener, Gavin Hudson, Claes M Gustafsson, Patrick F Chinnery, Patrick H Maxwell
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006620 (2017)
Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic sub
Externí odkaz:
https://doaj.org/article/6685dd0c725b4fedbc65cf57e4a7ebde
Autor:
Angela Pyle, Gavin Hudson, Ian J Wilson, Jonathan Coxhead, Tania Smertenko, Mary Herbert, Mauro Santibanez-Koref, Patrick F Chinnery
Publikováno v:
PLoS Genetics, Vol 11, Iss 5, p e1005040 (2015)
Recent reports have questioned the accepted dogma that mammalian mitochondrial DNA (mtDNA) is strictly maternally inherited. In humans, the argument hinges on detecting a signature of inter-molecular recombination in mtDNA sequences sampled at the po
Externí odkaz:
https://doaj.org/article/fb3f7a1bc21144deab9623328209db15
Autor:
Liliya eEuro, Svetlana eKonovalova, Jorge eAsin Cayuela, Már eTulinius, Helen eGriffin, Rita eHorvath, Robert W Taylor, Patrick F Chinnery, Ulrike eSchara, David R Thorburn, Anu eSuomalainen, Joseph eChihade, Henna eTyynismaa
Publikováno v:
Frontiers in Genetics, Vol 6 (2015)
The accuracy of mitochondrial protein synthesis is dependent on the coordinated action of nuclear-encoded mitochondrial aminoacyl-tRNA synthetases (mtARSs) and the mitochondrial DNA-encoded tRNAs. The recent advances in whole-exome sequencing have re
Externí odkaz:
https://doaj.org/article/2961b129d5ab487eb4cda88d23d08826
Autor:
Young Seok Ju, Ludmil B Alexandrov, Moritz Gerstung, Inigo Martincorena, Serena Nik-Zainal, Manasa Ramakrishna, Helen R Davies, Elli Papaemmanuil, Gunes Gundem, Adam Shlien, Niccolo Bolli, Sam Behjati, Patrick S Tarpey, Jyoti Nangalia, Charles E Massie, Adam P Butler, Jon W Teague, George S Vassiliou, Anthony R Green, Ming-Qing Du, Ashwin Unnikrishnan, John E Pimanda, Bin Tean Teh, Nikhil Munshi, Mel Greaves, Paresh Vyas, Adel K El-Naggar, Tom Santarius, V Peter Collins, Richard Grundy, Jack A Taylor, D Neil Hayes, David Malkin, ICGC Breast Cancer Group, ICGC Chronic Myeloid Disorders Group, ICGC Prostate Cancer Group, Christopher S Foster, Anne Y Warren, Hayley C Whitaker, Daniel Brewer, Rosalind Eeles, Colin Cooper, David Neal, Tapio Visakorpi, William B Isaacs, G Steven Bova, Adrienne M Flanagan, P Andrew Futreal, Andy G Lynch, Patrick F Chinnery, Ultan McDermott, Michael R Stratton, Peter J Campbell
Publikováno v:
eLife, Vol 3 (2014)
Recent sequencing studies have extensively explored the somatic alterations present in the nuclear genomes of cancers. Although mitochondria control energy metabolism and apoptosis, the origins and impact of cancer-associated mutations in mtDNA are u
Externí odkaz:
https://doaj.org/article/a97bb2e0fa0f4eb19b17cd3f405b0385