title: L-type Ca2+ channels in Ca2+ channelopathies.
abstract: Voltage-gated L-type Ca2+ channels (LTCCs) mediate depolarization-induced Ca2+ entry in electrically excitable cells, including muscle cells, neurons, and endocrine and sensory cells. In this review we summarize the role of LTCCs for human diseases caused by genetic Ca2+ channel defects (channelopathies). LTCC dysfunction can result from structural aberrations within pore-forming alpha1 subunits causing incomplete congenital stationary night blindness, malignant hyperthermia sensitivity or hypokalemic periodic paralysis. However, studies in mice revealed that LTCC dysfunction also contributes to neurological symptoms in Ca2+ channelopathies affecting non-LTCCs, such as Ca(v)2.1 alpha1 in tottering mice. Ca2+ channelopathies provide exciting molecular tools to elucidate the contribution of different LTCC isoforms to human diseases.
authors.affiliation: Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter-Mayr-Strasse 1, A-6020 Innsbruck, Austria. joerg.striessnig@uibk.ac.at
authors.forename: Jörg
authors.initials: J
authors.lastname: Striessnig
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Hoda
authors.forename: Alexandra
authors.initials: A
authors.lastname: Koschak
authors.forename: Francesca
authors.initials: F
authors.lastname: Zaghetto
authors.forename: Carmen
authors.initials: C
authors.lastname: Müllner
authors.forename: Martina J
authors.initials: MJ
authors.lastname: Sinnegger-Brauns
authors.forename: Claudia
authors.initials: C
authors.lastname: Wild
authors.forename: Katrin
authors.initials: K
authors.lastname: Watschinger
authors.forename: Alexander
authors.initials: A
authors.lastname: Trockenbacher
authors.forename: Gilda
authors.initials: G
authors.lastname: Pelster
mesh_terms: D000818:Animals; D020746:Calcium Channels, L-Type / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D008305:Malignant Hyperthermia / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D051379:Mice; D009755:Night Blindness / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
chemical_list: D020746:Calcium Channels, L-Type