Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Jeff W Barclay"'
Publikováno v:
Epilepsia Open, Vol 9, Iss 4, Pp 1458-1466 (2024)
Abstract Objective GABAA receptor subunit mutations pose a significant risk for genetic generalized epilepsy; however, there are over 150 identified variants, many with unknown or unvalidated pathogenicity. We aimed to develop in vivo models for test
Externí odkaz:
https://doaj.org/article/149613b0daa04cda9fa5cbb6e56dd64c
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e81117 (2013)
The molecular mechanisms underlying sensitivity to alcohol are incompletely understood. Recent research has highlighted the involvement of two presynaptic proteins, Munc18 and Rab3. We have previously characterised biochemically a number of specific
Externí odkaz:
https://doaj.org/article/d9bf7cce36164da2a2e156534bd2b840
Autor:
Margaret E Graham, Gerald R Prescott, James R Johnson, Mathew Jones, Alice Walmesley, Lee P Haynes, Alan Morgan, Robert D Burgoyne, Jeff W Barclay
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e17999 (2011)
Munc18-1 is an essential synaptic protein functioning during multiple stages of the exocytotic process including vesicle recruitment, docking and fusion. These functions require a number of distinct syntaxin-dependent interactions; however, Munc18-1
Externí odkaz:
https://doaj.org/article/c56eebfb9b8540b3b6a65436a2b5354b
Autor:
Felix O’Farrell, Benjamin Aleyakpo, Rima Mustafa, Xiyun Jiang, Rui Climaco Pinto, Paul Elliott, Ioanna Tzoulaki, Abbas Dehghan, Samantha H. Y. Loh, Jeff W. Barclay, L. Miguel Martins, Raha Pazoki
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract Biological pathways between alcohol consumption and alcohol liver disease (ALD) are not fully understood. We selected genes with known effect on (1) alcohol consumption, (2) liver function, and (3) gene expression. Expression of the ortholog
Externí odkaz:
https://doaj.org/article/0325f1b64d454089b354873fd13c3280
Autor:
Shi Quan Wong, Matthew G. Pontifex, Marie M. Phelan, Chandra Pidathala, Brian C. Kraemer, Jeff W. Barclay, Neil G. Berry, Paul M. O'Neill, Robert D. Burgoyne, Alan Morgan
Publikováno v:
Neurobiology of Disease, Vol 118, Iss , Pp 40-54 (2018)
The antiepileptic drug ethosuximide has recently been shown to be neuroprotective in various Caenorhabditis elegans and rodent neurodegeneration models. It is therefore a promising repurposing candidate for the treatment of multiple neurodegenerative
Externí odkaz:
https://doaj.org/article/a0a5900ed9fb48d482ef100848244392
Autor:
Felix O’Farrell, Benjamin Aleyakpo, Rima Mustafa, Xiyun Jiang, Rui Climaco Pinto, Paul Elliott, Ioanna Tzoulaki, Abbas Dehghan, Samantha H. Y. Loh, Jeff W. Barclay, L. Miguel Martins, Raha Pazoki
Alcohol consumption continues to cause a significant health burden globally. The advent of genome-wide association studies has unraveled many genetic loci associated with alcohol consumption. However, the biological effect of these loci and the pathw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60d383f4aeda4a45c520b6a011217587
https://doi.org/10.1101/2023.04.11.536418
https://doi.org/10.1101/2023.04.11.536418
Autor:
Jeff W. Barclay, Claire E. Eyers, Alan Morgan, Kimberley Burrow, Richard Campion, Patricia Thomas, Philip Brownridge, Leanne Bloxam, Campbell W. Gourlay, Daniel R Pentland
Publikováno v:
Biochemical Journal
BIOCHEMICAL JOURNAL
BIOCHEMICAL JOURNAL
Dietary restriction (DR) has been shown to increase lifespan in organisms ranging from yeast to mammals. This suggests that the underlying mechanisms may be evolutionarily conserved. Indeed, upstream signalling pathways, such as TOR, are strongly lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::001c2b957e65bce57d990b8e60397836
http://europepmc.org/articles/PMC8786290
http://europepmc.org/articles/PMC8786290
Publikováno v:
Human molecular genetics.
Autosomal dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is a rare neurodegenerative disorder characterized by progressive dementia and premature death. Four ANCL-causing mutations have been identified, all mapping to the DNAJC5 gene that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49409cb364871a767ceeb340560c944f
https://pubmed.ncbi.nlm.nih.gov/36282524
https://pubmed.ncbi.nlm.nih.gov/36282524
Autor:
Bangfu Zhu, Jennifer C. H. Mak, Andrew P. Morris, Jeff W. Barclay, Anthony G Marson, Alan Morgan, Graeme J. Sills
Publikováno v:
Epilepsia
Zhu, B, Mak, J C H, Morris, A P, Marson, A G, Barclay, J W, Sills, G J & Morgan, A 2020, ' Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans ', Epilepsia, vol. 61, no. 4, pp. 810-821 . https://doi.org/10.1111/epi.16464
Zhu, B, Mak, J C H, Morris, A P, Marson, A G, Barclay, J W, Sills, G J & Morgan, A 2020, ' Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans ', Epilepsia, vol. 61, no. 4, pp. 810-821 . https://doi.org/10.1111/epi.16464
Objective:\ud \ud Genetic variants in STXBP1 , which encodes the conserved exocytosis protein Munc18‐1, are associated with a variety of infantile epilepsy syndromes. We aimed to develop an in vivo Caenorhabditis elegans model that could be used to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce98fe1ca265384b907e47bad3bb6627
https://doi.org/10.1111/epi.16464
https://doi.org/10.1111/epi.16464
Autor:
Eric Jorgenson, Hélène Choquet, Tarja Kinnunen, Munir Pirmohamed, Jie Yin, Andrew Thompson, Jeff W. Barclay, Andrew P. Morris, James P. Cook
Publikováno v:
Science Advances
Thompson, A, Cook, J, Choquet, H, Jorgenson, E, Yin, J, Kinnunen, T, Barclay, J, Morris, A P & Pirmohamed, M 2020, ' Functional validity, role, and implications of heavy alcohol consumption genetic loci ', Science Advances, vol. 6, no. 3, eaay5034 . https://doi.org/10.1126/sciadv.aay5034
Thompson, A, Cook, J, Choquet, H, Jorgenson, E, Yin, J, Kinnunen, T, Barclay, J, Morris, A P & Pirmohamed, M 2020, ' Functional validity, role, and implications of heavy alcohol consumption genetic loci ', Science Advances, vol. 6, no. 3, eaay5034 . https://doi.org/10.1126/sciadv.aay5034
We identify six genetic loci associated with heavy alcohol intake in humans, and provide functional validation in C. elegans.
High alcohol consumption is a risk factor for morbidity and mortality, yet few genetic loci have been robustly associat
High alcohol consumption is a risk factor for morbidity and mortality, yet few genetic loci have been robustly associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8715718f9e067ae4331d815b7dd142f
http://livrepository.liverpool.ac.uk/3072318/1/eaay5034.full.pdf
http://livrepository.liverpool.ac.uk/3072318/1/eaay5034.full.pdf