Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Amy N. Shore"'
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:
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
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
Publikováno v:
eNeuro
Developmental epileptic encephalopathies (DEEs) are severe seizure disorders that occur in infants and young children, characterized by developmental delay, cognitive decline, and early mortality. Recent efforts have identified a wide variety of gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9b6b036be16634f1ed415e8320d69d7
https://pubmed.ncbi.nlm.nih.gov/33372033
https://pubmed.ncbi.nlm.nih.gov/33372033
Autor:
Matthew C. Weston, David Goldstein, Sabrina Petri, Sophie Colombo, Cathleen M. Lutz, Soledad Dominguez, Michael J. Boland, Mu Yang, Yueqing Peng, Erin R. Cullen, Michael A. Beaumont, William F. Tobin, Wayne N. Frankel, Damian J. Williams, Jennifer N. Gelinas, Amy N. Shore, Dion Khodagholy, Christopher D. Bostick
Gain-of-function (GOF) variants in K+ channels cause severe childhood epilepsies, but there are no mechanisms to explain how increased K+ currents lead to network hyperexcitability. Here, we introduced a human Na+-activated K+ (KNa) channel variant (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbedc01c382c29d4803ceb411ce433c8
https://doi.org/10.1101/2020.03.05.978841
https://doi.org/10.1101/2020.03.05.978841
Autor:
Kathryn A Laprade, Erin R. Cullen, Matthew C. Weston, Amy N. Shore, Caitlynn M. Barrows, James M. Stafford, Matthew P. McCabe, Katherine I Tooke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6499ca85ffffab7f92f7178dc05eacf4
https://doi.org/10.7554/elife.51440.sa2
https://doi.org/10.7554/elife.51440.sa2
Autor:
Amy N Shore, Elena B Kabotyanski, Kevin Roarty, Martin A Smith, Yiqun Zhang, Chad J Creighton, Marcel E Dinger, Jeffrey M Rosen
Publikováno v:
PLoS Genetics, Vol 8, Iss 7, p e1002840 (2012)
Pregnancy-induced noncoding RNA (PINC) and retinoblastoma-associated protein 46 (RbAp46) are upregulated in alveolar cells of the mammary gland during pregnancy and persist in alveolar cells that remain in the regressed lobules following involution.
Externí odkaz:
https://doaj.org/article/edd1211b52174fa2bb87b24ead25b82f
Autor:
Katherine I Tooke, Kathryn A Laprade, Matthew P. McCabe, James M. Stafford, Matthew C. Weston, Caitlynn M. Barrows, Erin R. Cullen, Amy N. Shore
Publikováno v:
eLife
eLife, Vol 9 (2020)
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bafa0e10ee0131045ecd63a340b4676
https://pubmed.ncbi.nlm.nih.gov/32125271
https://pubmed.ncbi.nlm.nih.gov/32125271
Autor:
Matthew C. Weston, Amy N. Shore, Katharine Tooke, Caitlynn M. Barrows, Erin R. Cullen, Matthew P. McCabe
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd6ab43a5d34bef8f52dabf8bebd1ccd
https://doi.org/10.1101/731554
https://doi.org/10.1101/731554