title: Calcium channels, neuromuscular synaptic transmission and neurological diseases.
abstract: Voltage-dependent calcium channels are essential in neuronal signaling and synaptic transmission, and their functional alterations underlie numerous human disorders whether monogenic (e.g., ataxia, migraine, etc.) or autoimmune. We review recent work on Ca(V)2.1 or P/Q channelopathies, mostly using neuromuscular junction preparations, and focus specially on the functional hierarchy among the calcium channels recruited to mediate neurotransmitter release when Ca(V)2.1 channels are mutated or depleted. In either case, synaptic transmission is greatly compromised; evidently, none of the reported functional replacements with other calcium channels compensates fully.
authors.affiliation: Laboratorio de Fisiología y Biología Molecular, Instituto de Fisiología y Biología Molecular y Neurociencias, Universidad de Buenos Aires-CONICET, Facultad de Ciencias Exactas y Naturales, Ciudad Universitaria, C1428-Buenos Aires, Argentina.
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Urbano
authors.forename: Mario R
authors.initials: MR
authors.lastname: Pagani
authors.forename: Osvaldo D
authors.initials: OD
authors.lastname: Uchitel
mesh_terms: D000818:Animals; D015220:Calcium Channels / Q000502:physiology*; D006801:Humans; D008954:Models, Biological; D008958:Models, Molecular; D009422:Nervous System Diseases / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009469:Neuromuscular Junction / Q000502:physiology*; D009435:Synaptic Transmission / Q000502:physiology*
chemical_list: D015220:Calcium Channels