Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Ruth E. Westenbroek"'
Autor:
Franck Kalume, John C. Oakley, Ruth E. Westenbroek, Jennifer Gile, Horacio O. de la Iglesia, Todd Scheuer, William A. Catterall
Publikováno v:
Neurobiology of Disease, Vol 77, Iss , Pp 141-154 (2015)
Dravet Syndrome (DS) is caused by heterozygous loss-of-function mutations in voltage-gated sodium channel NaV1.1. Our mouse genetic model of DS recapitulates its severe seizures and premature death. Sleep disturbance is common in DS, but its mechanis
Externí odkaz:
https://doaj.org/article/b314935a52a54e599be040ad91f6eb73
Autor:
Moran Rubinstein, Ruth E. Westenbroek, Frank H. Yu, Christina J. Jones, Todd Scheuer, William A. Catterall
Publikováno v:
Neurobiology of Disease, Vol 73, Iss , Pp 106-117 (2015)
Dominant loss-of-function mutations in voltage-gated sodium channel NaV1.1 cause Dravet Syndrome, an intractable childhood-onset epilepsy. NaV1.1+/− Dravet Syndrome mice in C57BL/6 genetic background exhibit severe seizures, cognitive and social im
Externí odkaz:
https://doaj.org/article/9bfdec89a6fd49b1a551dc468c52ccd8
Publikováno v:
Journal of experimental neurology
Dravet Syndrome (DS) is a severe childhood epilepsy caused by heterozygous loss-of-function mutations in the SCN1A gene encoding brain type-I voltage-gated sodium channel Nav1.1. DS is a devastating disease that typically begins at six to nine months
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e58396b671a8dd197bce6dc5f77df50d
https://doi.org/10.33696/neurol.2.040
https://doi.org/10.33696/neurol.2.040
Publikováno v:
Journal of General Physiology. 150:883-889
Stimulation of the L-type Ca2+ current conducted by CaV1.2 channels in cardiac myocytes by the β-adrenergic/protein kinase A (PKA) signaling pathway requires anchoring of PKA to the CaV1.2 channel by an A-kinase anchoring protein (AKAP). However, th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e96b35709ccd35d01a4b146fe53fe06
https://doi.org/10.1085/jgp.201711818
https://doi.org/10.1085/jgp.201711818
Publikováno v:
J Neurosci Methods
Background Dravet Syndrome (DS) is an epileptic disorder characterized by spontaneous and thermally-induced seizures, hyperactivity, cognitive deficits, autistic-like behaviors, and Sudden Unexpected Death in Epilepsy (SUDEP). DS is caused by de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833f71de72d19c3031117f3dfaaa05ec
https://pubmed.ncbi.nlm.nih.gov/31265868
https://pubmed.ncbi.nlm.nih.gov/31265868
Autor:
Hai Qian, Tommaso Patriarchi, Geoffrey G. Murphy, William A. Catterall, Franz Hofmann, Olivia R. Buonarati, Chao Ye Chen, Erik A. Hammes, Ruth E. Westenbroek, Jennifer L. Price, Yang Kevin Xiang, Zulfiquar A. Malik, Dhrubajyoti Chowdhury, Manuel F. Navedo, Johannes W. Hell, Valentina Di Biase
Publikováno v:
The EMBO journal, vol 35, iss 12
Agonist‐triggered downregulation of β‐adrenergic receptors (ARs) constitutes vital negative feedback to prevent cellular overexcitation. Here, we report a novel downregulation of β2 AR signaling highly specific for Cav1.2. We find that β2‐AR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4bc0d9c8d7d8a4c47513762c28adede
https://doi.org/10.15252/embj.201593409
https://doi.org/10.15252/embj.201593409
Autor:
Todd Scheuer, Frank H. Yu, Christina J. Jones, Ruth E. Westenbroek, William A. Catterall, Moran Rubinstein
Publikováno v:
Neurobiology of Disease, Vol 73, Iss, Pp 106-117 (2015)
Dominant loss-of-function mutations in voltage-gated sodium channel NaV1.1 cause Dravet Syndrome, an intractable childhood-onset epilepsy. NaV1.1(+/-) Dravet Syndrome mice in C57BL/6 genetic background exhibit severe seizures, cognitive and social im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adc4d0dd39f7ff8192e6b9df87c3931f
https://doi.org/10.1016/j.nbd.2014.09.017
https://doi.org/10.1016/j.nbd.2014.09.017
Worldwide medicinal use of cannabis is rapidly escalating, despite limited evidence of its efficacy from preclinical and clinical studies. Here we show that cannabidiol (CBD) effectively reduced seizures and autistic-like social deficits in a well-va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9e9f8747ba8ffe4d8b3d1c951d043f
https://europepmc.org/articles/PMC5651774/
https://europepmc.org/articles/PMC5651774/
Publikováno v:
The Journal of General Physiology
A-kinase anchoring proteins are required for β-adrenergic stimulation of L-type Ca2+ channels in cardiac myocytes, but the molecular species that is responsible for this regulation remains unknown. Yu et al. reveal that Cypher/Zasp is a key regulato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9c228e1789c1052d7ae70639b92a8488
https://pubmed.ncbi.nlm.nih.gov/29743299
https://pubmed.ncbi.nlm.nih.gov/29743299
Autor:
Laura A. Jansen, Franck Kalume, John C. Oakley, William H. Roden, William A. Catterall, Ruth E. Westenbroek, Christine S. Cheah
Publikováno v:
Channels. 7:468-472
Dravet Syndrome (DS) is an intractable genetic epilepsy caused by loss-of-function mutations in SCN1A, the gene encoding brain sodium channel Nav 1.1. DS is associated with increased frequency of sudden unexpected death in humans and in a mouse genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bec2dce8ef1f919edb1048fd662ee8e7
https://doi.org/10.4161/chan.26023
https://doi.org/10.4161/chan.26023