Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Matthew C Weston"'
Publikováno v:
eLife, Vol 12 (2024)
Gene variants that hyperactivate PI3K-mTOR signaling in the brain lead to epilepsy and cortical malformations in humans. Some gene variants associated with these pathologies only hyperactivate mTORC1, but others, such as PTEN, PIK3CA, and AKT, hypera
Externí odkaz:
https://doaj.org/article/120548ace96a4c5fa68f775c53d60ad7
Autor:
Matthew P McCabe, Erin R Cullen, Caitlynn M Barrows, Amy N Shore, Katherine I Tooke, Kathryn A Laprade, James M Stafford, Matthew C Weston
Publikováno v:
eLife, Vol 9 (2020)
Although mTOR signaling is known as a broad regulator of cell growth and proliferation, in neurons it regulates synaptic transmission, which is thought to be a major mechanism through which altered mTOR signaling leads to neurological disease. Althou
Externí odkaz:
https://doaj.org/article/3c48f14c2ef0425787d145d466e11f86
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 7 (2014)
The Pten and Tsc1 genes both encode proteins that repress mechanistic target of rapamycin (mTOR) signaling. Disruption of either gene in the brain results in epilepsy and autism-like symptoms in humans and mouse models, therefore it is important to u
Externí odkaz:
https://doaj.org/article/28d38b8c4e0742fab747fbb9dfe24627
Publikováno v:
The Journal of neuroscience : the official journal of the Society for Neuroscience.
Hyperactivation of PI3K/PTEN-mTOR signaling during neural development is associated with focal cortical dysplasia (FCD), autism, and epilepsy. mTOR can signal through two major hubs, mTORC1 and mTORC2, both of which are hyperactive following PTEN los
Autor:
Kamran Tariq, Erin Cullen, Stephanie A. Getz, Andie K.S. Conching, Andrew R. Goyette, Mackenzi L. Prina, Wei Wang, Meijie Li, Matthew C. Weston, Bryan W. Luikart
Publikováno v:
Cell reports. 41(5)
Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a negative regulator of AKT/mTOR signaling pathway. Mutations in PTEN are found in patients with autism, epilepsy, or macrocephaly. In mouse models, Pten loss results in neuronal hyper
Autor:
William F. Tobin, Matthew C. Weston
Genetic epilepsies are often caused by variants in widely expressed genes, potentially impacting numerous brain regions and functions. For instance, gain-of-function (GOF) variants in the widely expressed Na+-activated K+ channel gene KCNT1 alter bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d993a659aa0acd0048a6092ee834184
https://doi.org/10.1101/2021.12.23.473545
https://doi.org/10.1101/2021.12.23.473545
Autor:
Erin R. Cullen, Matthew C. Weston
Publikováno v:
Epilepsy Currents
Autor:
Matthew C. Weston
Publikováno v:
Neuron
Epilepsy Currents
Epilepsy Currents
Expression of the Neuronal tRNA n-Tr20 Regulates Synaptic Transmission and Seizure Susceptibility Kapur M, Ganguly A, Nagy G, Adamson SI, Chuang JH, Frankel WN, Ackerman SL. Neuron. 2020;108(1):193-208. e9. doi:10.1016/j.neuron.2020.07.023; PMID: 328
Autor:
Matthew C. Weston
Publikováno v:
Epilepsy Currents
Acute Knockdown of Depdc5 Leads to Synaptic Defects in mTOR-Related Epileptogenesis De Fusco A, Cerullo MS, Marte A, Michetti C, Romei A, Castroflorio E. Neurobiol Dis. 2020;139:104822. doi:10.1016/j.nbd.2020.104822DEP-domain containing 5 (DEPDC5) is
Publikováno v:
King, M, Ball, D, Weston, M, McCunn, R & Gibson, N 2021, ' Initial fitness, maturity status, and total training time explain small and inconsistent proportions of the variance in physical development of adolescent footballers across one season ', Research in Sports Medicine . https://doi.org/10.1080/15438627.2021.1888106
To investigate how initial fitness, maturity status, and training time explain changes in physical performance across one season. Eighty-eight adolescent male footballers, representing four age categories (Under 15 [n = 12], Under 14 [n = 21], Under