Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Elena Arystarkhova"'
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 13, p 7414 (2024)
The Na,K-ATPase is an α–β heterodimer. It is well known that the Na,K-ATPase β subunit is required for the biosynthesis and trafficking of the α subunit to the plasma membrane. During investigation of properties of human ATP1A3 mutations in 293
Externí odkaz:
https://doaj.org/article/309c16a1af53466ba9ff443f60ce1556
Autor:
Elena Arystarkhova, Ihtsham U. Haq, Timothy Luebbert, Fanny Mochel, Rachel Saunders-Pullman, Susan B. Bressman, Polina Feschenko, Cynthia Salazar, Jared F. Cook, Scott Demarest, Allison Brashear, Laurie J. Ozelius, Kathleen J. Sweadner
Publikováno v:
Neurobiology of Disease, Vol 132, Iss , Pp - (2019)
Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new mutations and their phenotypes are reported here (p.Asp366His, p.Asp742Tyr, p.Asp743His, p
Externí odkaz:
https://doaj.org/article/82e95045cee04ce6ab9eb9a710e01a73
Impaired AQP2 trafficking in Fxyd1 knockout mice: A role for FXYD1 in regulated vesicular transport.
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0188006 (2017)
The final adjustment of urine volume occurs in the inner medullary collecting duct (IMCD), chiefly mediated by the water channel aquaporin 2 (AQP2). With vasopressin stimulation, AQP2 accumulation in the apical plasma membrane of principal cells allo
Externí odkaz:
https://doaj.org/article/90ffcd8aaa944fdf90a4d5e8832c30fb
Autor:
Yi Bessie Liu, Ambika Tewari, Johnny Salameh, Elena Arystarkhova, Thomas G Hampton, Allison Brashear, Laurie J Ozelius, Kamran Khodakhah, Kathleen J Sweadner
Publikováno v:
eLife, Vol 4 (2015)
A new mutant mouse (lamb1t) exhibits intermittent dystonic hindlimb movements and postures when awake, and hyperextension when asleep. Experiments showed co-contraction of opposing muscle groups, and indicated that symptoms depended on the interactio
Externí odkaz:
https://doaj.org/article/c7a8205741164a5787ced801c1b8309f
Publikováno v:
The Journal of Biological Chemistry
Missense mutations in ATP1A3, the α3 isoform of Na,K-ATPase, cause neurological phenotypes that differ greatly in symptoms and severity. A mechanistic basis for differences is lacking, but reduction of activity alone cannot explain them. Isogenic ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b84f0e296198a9bf694f744e12b710d
http://europepmc.org/articles/PMC7949067
http://europepmc.org/articles/PMC7949067
Autor:
Kathleen J. Sweadner, Kathryn J. Swoboda, Allison Brashear, Laurie J. Ozelius, Elena Arystarkhova, John T. Penniston
Publikováno v:
Neurology: Genetics
ObjectiveWe tested the assumption that closely related genes should have similar pathogenic variants by analyzing >200 pathogenic variants in a gene family with high neurologic impact and high sequence identity, the Na,K-ATPases ATP1A1, ATP1A2, and A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c849a3458256e551cdfcf7aab57d91
https://doi.org/10.1212/nxg.0000000000000303
https://doi.org/10.1212/nxg.0000000000000303
Autor:
Rebecca J. Clifford, Elena Arystarkhova, Violeta Stanojevic, Kathleen J. Sweadner, Gerald M. Kidder, Cynthia Salazar, Yi B. Liu, Jack H. Kaplan
Publikováno v:
Journal of Biological Chemistry. 288:7077-7085
Restoration of the functional potency of pancreatic islets either through enhanced proliferation (hyperplasia) or increase in size (hypertrophy) of beta cells is a major objective for intervention in diabetes. We have obtained experimental evidence t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23503065a93ce04e52ee781173c4a723
https://doi.org/10.1074/jbc.m112.401190
https://doi.org/10.1074/jbc.m112.401190
Autor:
Elena Arystarkhova
Publikováno v:
Frontiers in Physiology
Frontiers in Physiology, Vol 7 (2016)
Frontiers in Physiology, Vol 7 (2016)
The fundamental role of Na,K-ATPase in eukaryotic cells calls for complex and efficient regulation of its activity. Besides alterations in gene expression and trafficking, kinetic properties of the pump are modulated by reversible association with si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4af78afffd376ca422322d8aaf1c2fc8
Publikováno v:
P-Type ATPases ISBN: 9781493931781
The properties of different combinations of Na,K-ATPase subunits or their mutations can be studied in stably transfected mammalian cells. As a specific example, the methods here are for transfection of a modulatory subunit into cells with endogenous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::001437a14990fbf72c2c095a76150f54
https://doi.org/10.1007/978-1-4939-3179-8_28
https://doi.org/10.1007/978-1-4939-3179-8_28
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1377
The properties of different combinations of Na,K-ATPase subunits or their mutations can be studied in stably transfected mammalian cells. As a specific example, the methods here are for transfection of a modulatory subunit into cells with endogenous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::440ced7added804caccbfc87b17d1c05
https://pubmed.ncbi.nlm.nih.gov/26695043
https://pubmed.ncbi.nlm.nih.gov/26695043