Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Haritha P. Reddy"'
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:
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
Publikováno v:
Journal of Molecular Neuroscience. 61:459-467
Orexin-A and orexin-B (Ox-A, Ox-B) are neuropeptides produced by a small number of neurons that originate in the hypothalamus and project widely in the brain. Only discovered in 1998, the orexins are already known to regulate several behaviours. Most
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
Autor:
Amal Kanti Bera, Mariam Ashkar, Reem Handklo Jamal, Neta Theodor, Haritha P. Reddy, Boris Shalomov, Nathan Dascal
Publikováno v:
Biophysical Journal. 118:117a