Zobrazeno 1 - 10
of 120
pro vyhledávání: '"John M Land"'
Autor:
Dalia Kasperavičiūtė, Claudia B Catarino, Krishna Chinthapalli, Lisa M S Clayton, Maria Thom, Lillian Martinian, Hannah Cohen, Shazia Adalat, Detlef Bockenhauer, Simon A Pope, Nicholas Lench, Martin Koltzenburg, John S Duncan, Peter Hammond, Raoul C M Hennekam, John M Land, Sanjay M Sisodiya
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e23182 (2011)
Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained.We describe three patients with common, sporadic,
Externí odkaz:
https://doaj.org/article/20b3dea1c45749b0aaf2ee6429597147
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
Autor:
Gregory J. Pelka, Sarah L. Williamson, John Christodoulou, Iain P. Hargreaves, Wendy A. Gold, Simranpreet Kaur, Patrick P.L. Tam, John M. Land
Publikováno v:
Mitochondrion. 15:10-17
Rett syndrome (RTT) is a severe neurodevelopmental disorder, predominantly caused by mutations in the X-linked Methyl-CpG-binding protein 2 (MECP2) gene. Patients present with numerous functional deficits including intellectual disability and abnorma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50f3ada69db9eab931f84f4e1f18b3aa
https://doi.org/10.1016/j.mito.2014.02.012
https://doi.org/10.1016/j.mito.2014.02.012
Publikováno v:
Molecular Syndromology. 5:147-155
Coenzyme Q10 (CoQ10) deficiency appears to have a particularly heterogeneous clinical presentation. However, there appear to be 5 recognisable clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e0150a165da943617cfe5b273bf4b48
https://doi.org/10.1159/000362390
https://doi.org/10.1159/000362390
Autor:
Shamima Rahman, Simon Eaton, Viruna Neergheen, John M. Land, Iain P. Hargreaves, Sophie-Beth Aylett, Simon Heales
Publikováno v:
Neurochemistry International. 63:750-755
Deficiency of 5-methyltetrahydrofolate (5-MTHF) in cerebrospinal fluid (CSF) is associated with a number of neurometabolic conditions including mitochondrial electron transport chain defects. Whilst failure of the active transport of 5-methyltetrahyd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75451495ab796a8e06ec62780f563ea
https://doi.org/10.1016/j.neuint.2013.10.002
https://doi.org/10.1016/j.neuint.2013.10.002
Autor:
Lee Stanyer, Annapurna Chalasani, Andrey Y. Abramov, Kira M. Holmström, Ying Zhang, Iain P. Hargreaves, Masayuki Yamamoto, Liam Baird, John M. Land, Albena T. Dinkova-Kostova
Publikováno v:
Biology Open, Vol 2, Iss 8, Pp 761-770 (2013)
Biology Open
Biology Open
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ec1b248cd7a0095495651221e1d2e95
http://bio.biologists.org/content/2/8/761
http://bio.biologists.org/content/2/8/761
Autor:
Antony Briddon, Iain P. Hargreaves, Berna Demiray, John M. Land, Elaine Murphy, Kate Duberley, Fiona Turkes
Publikováno v:
Toxicology Mechanisms and Methods. 23:459-463
Elevated plasma homocysteine (Hcy) has been detected in patients with various neurodegenerative conditions. Studies on neurones and cerebral tissue have revealed that hyperhomocystinaemia may inhibit mitochondrial electron transport chain (ETC) enzym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b417e6acde602ca6de71fba6fc5c73d1
https://doi.org/10.3109/15376516.2013.780276
https://doi.org/10.3109/15376516.2013.780276
Autor:
John M. Land, Kevin Mills, Iain P. Hargreaves, Shamima Rahman, Simon Eaton, Korn-Anong Chaiwatanasirikul, Simon Heales, Kate Duberley
Publikováno v:
Rapid Communications in Mass Spectrometry. 27:924-930
RATIONALE Neurological dysfunction is common in primary coenzyme Q10 (2,3-dimethoxy, 5-methyl, 6-polyisoprene parabenzoquinone; CoQ10; ubiquinone) deficiencies, the most readily treatable subgroup of mitochondrial disorders. Therapeutic benefit from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a4a08e066a02186781225f5eea4559f
https://doi.org/10.1002/rcm.6529
https://doi.org/10.1002/rcm.6529
Publikováno v:
Neurochemistry International. 62:684-694
Dopamine is produced first by hydroxylalation of l-tyrosine to l-dihydroxyphenylalanine (l-dopa) and subsequently by the decarboxylation of l-dopa to dopamine catalysed by the enzymes tyrosine hydroxylase and aromatic l-amino acid decarboxylase (AADC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9d803d91b953635d91193538d1f53f1
https://doi.org/10.1016/j.neuint.2012.12.004
https://doi.org/10.1016/j.neuint.2012.12.004
