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: |
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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 |
Externí odkaz: |
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