Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia

Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia

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 multidis...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2019-12-01
Series:Neurobiology of Disease
Subjects:
Primary dystonia
Hippocalcin
Dystonia-causing mutations
Slow afterhyperpolarization
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996119301974

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http://www.sciencedirect.com/science/article/pii/S0969996119301974

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