Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Boris Shalomov"'
Autor:
Haritha Reddy, Daniel Yakubovitch, Tal Raifman, Maria Pederson, Boris Shalomov, Jonathan Javitch, Amal Bera, Nathan Dascal
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S130- (2023)
Externí odkaz:
https://doaj.org/article/643833eee0154337bc675886ec80cc0e
Autor:
Sophie Colombo, Haritha P. Reddy, Sabrina Petri, Damian J. Williams, Boris Shalomov, Ryan S. Dhindsa, Sahar Gelfman, Daniel Krizay, Amal K. Bera, Mu Yang, Yueqing Peng, Christopher D. Makinson, Michael J. Boland, Wayne N. Frankel, David B. Goldstein, Nathan Dascal
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
De novo mutations in GNB1, encoding the Gβ1 subunit of G proteins, cause a neurodevelopmental disorder with global developmental delay and epilepsy, GNB1 encephalopathy. Here, we show that mice carrying a pathogenic mutation, K78R, recapitulate aspe
Externí odkaz:
https://doaj.org/article/dac698f6f6cf4d51b12011c167d1b0e2
Autor:
Theres Friesacher, Haritha P. Reddy, Harald Bernsteiner, J. Carlo Combista, Boris Shalomov, Amal K. Bera, Eva-Maria Zangerl-Plessl, Nathan Dascal, Anna Stary-Weinzinger
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-13 (2022)
Gly selectivity filter (TIGYGYR) mutant of the GIRK2 channel causes rare but severe neurological disorder called the Keppen-Lubinsky syndrome. Here, the authors explore the molecular mechanism of action of this glycine to serine mutant causing diseas
Externí odkaz:
https://doaj.org/article/06836862f38b478c94f96d2c99760011
Autor:
Haritha P. Reddy, Daniel Yakubovich, Tal Keren-Raifman, Galit Tabak, Vladimir A. Tsemakhovich, Maria H. Pedersen, Boris Shalomov, Sophie Colombo, David B. Goldstein, Jonathan A. Javitch, Amal K. Bera, Nathan Dascal
Publikováno v:
iScience, Vol 24, Iss 9, Pp 103018- (2021)
Summary: Mutations in the GNB1 gene, encoding the Gβ1 subunit of heterotrimeric G proteins, cause GNB1 Encephalopathy. Patients experience seizures, pointing to abnormal activity of ion channels or neurotransmitter receptors. We studied three Gβ1 m
Externí odkaz:
https://doaj.org/article/a8509ea3478949a6968a13d4ac66ac37
Autor:
Boris Shalomov, J. Carlo Combista, Haritha P. Reddy, Shoham Dabbah, Daniel Yakubovich, Nathan Dascal
Publikováno v:
Biophysical Journal. 122:258a
Autor:
Theres Friesacher, Haritha P. Reddy, Harald Bernsteiner, John Carlo Combista, Boris Shalomov, Amal K. Bera, Eva-Maria Zangerl-Plessl, Nathan Dascal, Anna Stary-Weinzinger
Supplemental material to the study "A selectivity filter mutation provides insights into gating regulation of a K+ channel", published in Communications Biology. The upload contains Molecular Dynamics simulation data ofmGIRK2wt as well asmGIRK2weaver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abeca013af4c231e4541f8937a909bad
Autor:
Tal Keren-Raifman, Sophie Colombo, Amal Kanti Bera, Daniel Yakubovich, Jonathan A. Javitch, Nathan Dascal, Galit Tabak, Haritha P. Reddy, David Goldstein, Vladimir Tsemakhovich, Boris Shalomov, Maria Hauge Pedersen
Publikováno v:
iScience, Vol 24, Iss 9, Pp 103018-(2021)
Reddy, H P, Yakubovich, D, Keren-Raifman, T, Tabak, G, Tsemakhovich, V A, Pedersen, M H, Shalomov, B, Colombo, S, Goldstein, D B, Javitch, J A, Bera, A K & Dascal, N 2021, ' Encephalopathy-causing mutations in G beta(1) (GNB1) alter regulation of neuronal GIRK channels ', iScience, vol. 24, no. 9, 103018 . https://doi.org/10.1016/j.isci.2021.103018
Reddy, H P, Yakubovich, D, Keren-Raifman, T, Tabak, G, Tsemakhovich, V A, Pedersen, M H, Shalomov, B, Colombo, S, Goldstein, D B, Javitch, J A, Bera, A K & Dascal, N 2021, ' Encephalopathy-causing mutations in G beta(1) (GNB1) alter regulation of neuronal GIRK channels ', iScience, vol. 24, no. 9, 103018 . https://doi.org/10.1016/j.isci.2021.103018
Mutations in the GNB1 gene, encoding the G beta(1) subunit of heterotrimeric G proteins, cause GNB1 Encephalopathy. Patients experience seizures, pointing to abnormal activity of ion channels or neurotransmitter receptors. We studied three G beta(1)
Autor:
Meng Cui, Keman Xu, Kirin D. Gada, Boris Shalomov, Michelle Ban, Giasemi C. Eptaminitaki, Takeharu Kawano, Leigh D. Plant, Nathan Dascal, Diomedes E. Logothetis
Publikováno v:
Journal of Biological Chemistry. 298:102009
G protein-sensitive inwardly rectifying potassium (GIRK) channels are important pharmaceutical targets for neuronal, cardiac, and endocrine diseases. Although a number of GIRK channel modulators have been discovered in recent years, most lack selecti
Autor:
Reem Handklo-Jamal, Neta Theodor, Haritha P. Reddy, Boris Shalomov, Amal Kanti Bera, Nathan Dascal
G-protein gated, inwardly rectifying potassium channels (GIRK) mediate inhibitory transmission in brain, heart, and adrenal cortex. GIRK4 (KCNJ5) subunits are abundant in the heart and adrenal cortex. Multiple mutations ofKCNJ5cause primary aldostero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a209d083ad8723f0568ddb23b4f26147
https://doi.org/10.1101/866202
https://doi.org/10.1101/866202
Autor:
Sophie Colombo, Sahar Gelfman, Boris Shalomov, Mu Yang, Yueqing Peng, Michael J. Boland, Daniel Krizay, Amal Kanti Bera, Haritha P. Reddy, Nathan Dascal, Ryan S. Dhindsa, Galit Tabak, Wayne N. Frankel, Sabrina Petri, Elizabeth E. Rafikian, David Goldstein, Sasa Teng
SUMMARYDe novo mutations in GNB1, encoding the Gβ1 subunit of G proteins, cause a neurodevelopmental disorder with global developmental delay and epilepsy. Mice carrying a pathogenic mutation, K78R, recapitulate aspects of the disorder, including de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562d36e4c68997a0710af1d7837bf1ee
https://doi.org/10.1101/697235
https://doi.org/10.1101/697235