Schneider, T., Neumaier, F., Hescheler, J. and Alpdogan, S. (2020). Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective. Pflugers Arch., 472 (7). S. 811 - 817. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-2013

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Abstract

So-called pharmacoresistant (R-type) voltage-gated Ca(2+)channels are structurally only partially characterized. Most of them are encoded by the CACNA1E gene and are expressed as different Ca(v)2.3 splice variants (variant Ca(v)2.3a to Ca(v)2.3e or f) as the ion conducting subunit. So far, no inherited disease is known for the CACNA1E gene but recently spontaneous mutations leading to early death were identified, which will be brought into focus. In addition, a short historical overview may highlight the development to understand that upregulation during aging, easier activation by spontaneous mutations or lack of bioavailable inorganic cations (Zn(2+)and Cu2+) may lead to similar pathologies caused by cellular overexcitation.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Schneider, T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neumaier, F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hescheler, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alpdogan, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-330075
DOI: 10.1007/s00424-020-02395-0
Journal or Publication Title: Pflugers Arch.
Volume: 472
Number: 7
Page Range: S. 811 - 817
Date: 2020
Publisher: SPRINGER HEIDELBERG
Place of Publication: HEIDELBERG
ISSN: 1432-2013
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
II-III LOOP; FUNCTIONAL EXPRESSION; CA2+ CHANNELS; T-TYPE; MOLECULAR CHARACTERIZATION; AUXILIARY SUBUNITS; PHARMACOLOGY; PHYSIOLOGY; DIVERSITY; TERMINUSMultiple languages
PhysiologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/33007

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