PubMed 15336981

Title: L-type Ca2+ channels in Ca2+ channelopathies.

Authors: Jörg Striessnig, Jean-Charles Hoda, Alexandra Koschak, Francesca Zaghetto, Carmen Müllner, Martina J Sinnegger-Brauns, Claudia Wild, Katrin Watschinger, Alexander Trockenbacher, Gilda Pelster

Journal, date & volume: Biochem. Biophys. Res. Commun., 2004 Oct 1 , 322, 1341-6

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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.