Perturbed Ca

Autor: D S, Osypenko, A V, Dovgan, N I, Kononenko, A V, Dromaretsky, M, Matvieienko, O A, Rybachuk, J, Zhang, S M, Korogod, V, Venkataraman, P, Belan
Rok vydání: 2019
Předmět:
Zdroj: Neurobiology of disease. 132
ISSN: 1095-953X
Popis: A recent report of autosomal-recessive primary isolated dystonia (DYT2 dystonia) identified mutations in HPCA, a gene encoding a neuronal calcium sensor protein, hippocalcin (HPCA), as the cause of this disease. However, how mutant HPCA leads to neuronal dysfunction remains unknown. Using a multidisciplinary approach, we demonstrated the failure of dystonic N75K HPCA mutant to decode short bursts of action potentials and theta rhythms in hippocampal neurons by its Ca
Databáze: OpenAIRE