Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice.

Autor: Greer S Kirshenbaum, Neil Dawson, Jonathan G L Mullins, Tom H Johnston, Mark J Drinkhill, Ian J Edwards, Susan H Fox, Judith A Pratt, Jonathan M Brotchie, John C Roder, Steven J Clapcote

Publikováno v: PLoS ONE, Vol 8, Iss 3, p e60141 (2013)

Missense mutations in ATP1A3 encoding Na(+),K(+)-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. Affected children tend to be of shor

Externí odkaz: https://doaj.org/article/f77497bbfa82468199347510a9502a64

The glycinergic system in human startle disease: a genetic screening approach

Autor: Jeff S Davies, Seo-Kyung Chung, Rhys H Thomas, Angela Robinson, Carrie L Hammond, Jonathan G L Mullins, Eloisa Carta, Brian R Pearce, Kirsten Harvey, Robert J Harvey, Mark I Rees

Publikováno v: Frontiers in Molecular Neuroscience, Vol 3 (2010)

Human startle disease, also known as hyperekplexia (OMIM 149400), is a paroxysmal neurological disorder caused by defects in glycinergic neurotransmission. Hyperekplexia is characterised by an exaggerated startle reflex in response to tactile or acou

Externí odkaz: https://doaj.org/article/ba58d2bc7f0a425cad44123b79781c6e

In Vitro and In Silico Analyses of the Inhibition of Human Aldehyde Oxidase by Bazedoxifene, Lasofoxifene, and Structural Analogues

Autor: Jonathan G. L. Mullins, Karl Austin-Muttitt, Shiyan Chen, Linghua Harris Zhang, Aik Jiang Lau

Publikováno v: Journal of Pharmacology and Experimental Therapeutics. 371:75-86

Tamoxifen, raloxifene, and nafoxidine are selective estrogen receptor modulators (SERMs) reported to inhibit the catalytic activity of human aldehyde oxidase 1 (AOX1). How these drugs interact with AOX1 and whether other SERMs inhibit this drug-metab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::395f34d59c0bad1e3a3940b3948c1c3d
https://doi.org/10.1124/jpet.119.259267

Structure-Related Differences between Cytochrome Oxidase I Proteins in a Stable Heteroplasmic Mitochondrial System

Autor: Fabrizio Ghiselli, Angel P. Diz, Jonathan G. L. Mullins, David O. F. Skibinski, Liliana Milani

Publikováno v: Genome Biology and Evolution

Many bivalve species have two types of mitochondrial DNA passed independently through the female line (F genome) and male line (M genome). Here we study the cytochrome oxidase I protein in such bivalve species and provide evidence for differences bet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b52d290d8b0ff9856748419ab3e09ce
https://doi.org/10.1093/gbe/evx235

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Autor: Alison M. Muir, Hongjie Yuan, Belinda A.N. Thompson, Hirofumi Kusumoto, Ehud Banne, Fabienne Giuliano, Amanda B. Mackenzie, Vardiella Meiner, Chun Hu, Michael Patrick Kerr, Valérie Layet, Kristin M. Knight, Gil Shaulsky, Heledd F. Iago, Hood Mugalaasi, Daniela T. Pilz, Varun Kannan, Lilach Shemer-Meiri, William B. Dobyns, Andrew E. Fry, Nathanel Zelnik, Mark I. Rees, Jin Zhang, Johannes R. Lemke, David Sims, Chirag Patel, Laura H. Kofman, Nadia Bahi-Buisson, Louise A. Brueton, Seo-Kyung Chung, Stephen F. Traynelis, Thomas D. Cushion, Wenjuan Chen, Katherine L. Helbig, Heather C Mefford, Tally Lerman-Sagie, Ghayda M. Mirzaa, Jonathan G. L. Mullins, Neil Stoodley, Katherine A. Fawcett, Sharon A. Swanger

Publikováno v: Mackenzie, A, Fry, A, Thomposon, B, Fawcett, K, Zelnik, N, Shemer-Meiri, L, cushion, T, Mugalaasi, H & Stoodley, N 2018, ' De novo mutations in GRIN1 cause extensive bilateral polymicrogyria ', Brain : A Journal of Neurology . https://doi.org/10.1093/brain/awx358
Brain

NMDA receptor agonists have been used for many years to generate animal models of polymicrogyria, a malformation of cortical development. Fry et al. identify de novo GRIN1 mutations in eleven patients with severe bilateral polymicrogyria. Polymicrogy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb67bb771886856a19333313ed3281ab
https://purehost.bath.ac.uk/ws/files/160097231/Fry_GRIN1_Main_Text_R1_171017_accepted.pdf