Article
Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.
PloS one - 1 Jan 2013
Rubio-Moscardo Fanny, Setó-Salvia Núria, Pera Marta, Bosch-Morató Mònica, Plata Cristina, Belbin Olivia, Gené Gemma, Dols-Icardo Oriol, Ingelsson Martin, Helisalmi Seppo, Soininen Hilkka, Hiltunen Mikko, Giedraitis Vilmantas, Lannfelt Lars, Frank Ana, Bullido Ma Jesús, Combarros Onofre, Sánchez-Juan Pascual, Boada Mercè, Tárraga Lluís, Pastor Pau, Pérez-Tur Jordi, Baquero Miquel, Molinuevo José L, Sánchez-Valle Raquel, Fuentes-Prior Pablo, Fortea Juan, Blesa Rafael, Muñoz Francisco J, Lleó Alberto, Valverde Miguel A, Clarimón Jordi
Abstract excerpt
Calcium signaling in the brain is fundamental to the learning and memory process and there is evidence to suggest that its dysfunction is involved in the pathological pathways underlying Alzheimer's disease (AD). Recently, the calcium hypothesis of AD has received support with the identification of the non-selective Ca(2+)-permeable channel CALHM1. A genetic polymorphism (p. P86L) in CALHM1 reduces plasma...
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