Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Matthew C Weston"'
Autor:
Amy N Shore, Keyong Li, Mona Safari, Alshaima'a M Qunies, Brittany D Spitznagel, C David Weaver, Kyle Emmitte, Wayne Frankel, Matthew C Weston
Publikováno v:
eLife, Vol 13 (2024)
More than 20 recurrent missense gain-of-function (GOF) mutations have been identified in the sodium-activated potassium (KNa) channel gene KCNT1 in patients with severe developmental and epileptic encephalopathies (DEEs), most of which are resistant
Externí odkaz:
https://doaj.org/article/c400c6aeddf44a7fa69400b6b4b9e3a2
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:
Megha Sah, Amy N. Shore, Sabrina Petri, Ayla Kanber, Mu Yang, Matthew C. Weston, Wayne N. Frankel
Publikováno v:
Neurobiology of Disease, Vol 137, Iss , Pp 104758- (2020)
Mutations in the X-linked gene IQSEC2 are associated with multiple cases of epilepsy, epileptic encephalopathy, intellectual disability and autism spectrum disorder, the mechanistic understanding and successful treatment of which remain a significant
Externí odkaz:
https://doaj.org/article/783d723c27634366825b055ff123b033
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::433a70e17ef6be6322ab322d46e25d26
https://pubmed.ncbi.nlm.nih.gov/36526374
https://pubmed.ncbi.nlm.nih.gov/36526374
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9662f4edd98e58fd355f90572ab734e1
https://pubmed.ncbi.nlm.nih.gov/36323257
https://pubmed.ncbi.nlm.nih.gov/36323257
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ae4bd3fda15b8dd507993bf59012773
https://pubmed.ncbi.nlm.nih.gov/34924859
https://pubmed.ncbi.nlm.nih.gov/34924859
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8efcee6097dbf7b258cfa42aec45150f
https://doi.org/10.1177/1535759720956992
https://doi.org/10.1177/1535759720956992
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