Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective.

Pflügers Archiv : European journal of physiology
Toni SchneiderS Alpdogan

Abstract

So-called pharmacoresistant (R-type) voltage-gated Ca2+ channels are structurally only partially characterized. Most of them are encoded by the CACNA1E gene and are expressed as different Cav2.3 splice variants (variant Cav2.3a to Cav2.3e 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 (Zn2+ and Cu2+) may lead to similar pathologies caused by cellular overexcitation.

References

May 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·W A HorneT L Schwarz
Oct 3, 1998·Journal of Bioenergetics and Biomembranes·E Perez-Reyes
Aug 2, 2002·Biochimica Et Biophysica Acta·Jennifer W MitchellPhilip M Best
Jul 9, 2005·Science·Stephen B LongRoderick Mackinnon
Jul 31, 2007·The Journal of Biological Chemistry·Alexandra RaybaudLucie Parent
Jun 18, 2014·Brain : a Journal of Neurology·Elena DragicevicBirgit Liss
Mar 31, 2015·Progress in Neurobiology·Felix NeumaierToni Schneider
Mar 31, 2015·Journal of Cellular Physiology·Marta Campiglio, Bernhard E Flucher
May 15, 2015·Current Molecular Pharmacology·Alexandra F BreitenkampStefan Herzig
Apr 14, 2017·Nature Chemical Biology·William A CatterallNing Zheng
Jun 29, 2018·Pflügers Archiv : European journal of physiology·S HeringE N Timin
Jul 5, 2018·Journal of Neurochemistry·Felix NeumaierToni Schneider
Jul 20, 2019·Experimental Brain Research·Serdar AlpdoganToni Schneider
Nov 11, 2019·Nature Communications·Julia BenkertBirgit Liss
Feb 19, 2020·Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology·Serdar AlpdoganToni Schneider

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Datasets Mentioned

BETA
L27745.2

Software Mentioned

Discopyge

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.