Genetic T-type calcium channelopathies

0519316 - ÚOCHB 2021 RIV GB eng J - Článek v odborném periodiku
Weiss, Norbert - Zamponi, G. W.
Genetic T-type calcium channelopathies.
Journal of Medical Genetics. Roč. 57, č. 1 (2020), s. 1-10. ISSN 0022-2593. E-ISSN 1468-6244
Institucionální podpora: RVO:61388963
Klíčová slova: calcium channels * T-type channels * Ca(v)3 channels * mutation * channelopathies * epilepsy * autism spectrum disorders * schizophrenia * amyotrophic lateral sclerosis * aldosteronism
Obor OECD: Biochemistry and molecular biology
Impakt faktor: 6.318, rok: 2020
Způsob publikování: Open access
https://jmg.bmj.com/content/57/1/1

T-type channels are low-voltage-activated calcium channels that contribute to a variety of cellular and physiological functions, including neuronal excitability, hormone and neurotransmitter release as well as developmental aspects. Several human conditions including epilepsy, autism spectrum disorders, schizophrenia, motor neuron disorders and aldosteronism have been traced to variations in genes encoding T-type channels. In this short review, we present the genetics of T-type channels with an emphasis on structure-function relationships and associated channelopathies.
Trvalý link: http://hdl.handle.net/11104/0304525