González Rojo, Paula(Universitat Politècnica de València, 2018-09-14)
[EN] Huntington's disease (HD) is a rare neurodegenerative pathology that presents an autosomal dominant inheritance. HD is caused by the presence of an abnormal number of CAG triplets (CAG expansion mutation) in the first ...
Leiva Yuste, Diego(Universitat Politècnica de València, 2017-10-16)
[ES] La enfermedad de Huntington (EH) es una patología neurodegenerativa de
herencia autosómica dominante y de baja prevalencia. Se encuentra dentro de los desórdenes
causados por expansiones de tripletes CAG. En el exón ...
Calpena-Corpas, Eduardo; Lopez del Amo, V; Chakraborty M; Llamusi, B; Artero R; Espinos, Carmen; Galindo, Máximo Ibo(The Company of Biologists, 2018-01)
[EN] Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells, with crucial implications for human pathophysiology. In mammals, this family consists of four members (JPH1-JPH4) ...