Ryanodine receptor mutations: in sickness and in health

Ryanodine Receptors (RyR) are large ion channels necessary for Ca2+ release from intracellular stores in many cell types. Since RyR was discovered nearly 30 years ago, a fruitful research field has devoted to understanding the physiological regulation of the three protein isoforms in health, and the...

Descripción completa

Detalles Bibliográficos
Autores principales: Alvarado, Francisco J., Valdivia, Carmen R.
Formato: Articulo Revision
Lenguaje:Inglés
Publicado: 2018
Materias:
Bioquímica
Excitation-contraction coupling
Ryanodine receptor
Calcium
Cardiac arrhythmia
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/127226
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-127226
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Bioquímica
Excitation-contraction coupling
Ryanodine receptor
Calcium
Cardiac arrhythmia
spellingShingle Bioquímica
Excitation-contraction coupling
Ryanodine receptor
Calcium
Cardiac arrhythmia
Alvarado, Francisco J.
Valdivia, Carmen R.
Ryanodine receptor mutations: in sickness and in health
topic_facet Bioquímica
Excitation-contraction coupling
Ryanodine receptor
Calcium
Cardiac arrhythmia
description Ryanodine Receptors (RyR) are large ion channels necessary for Ca2+ release from intracellular stores in many cell types. Since RyR was discovered nearly 30 years ago, a fruitful research field has devoted to understanding the physiological regulation of the three protein isoforms in health, and the mechanisms underlying their dysfunction in sickness. This minireview discusses the structural characteristics of RyR2, the cardiac isoform, its regulation during cardiac function and the clinical significance of specific mutations. While hundreds of RyR2 mutations are associated with cardiac disease with different levels of confidence, close to 1500 variants appear in the general population without inducing harmful phenotypes. Hence, studying RyR2 mutations variants may shed light on overall protein regulation and the mechanisms that compensate for constitutive changes in RyR2 function.
format Articulo
Revision
author Alvarado, Francisco J.
Valdivia, Carmen R.
author_facet Alvarado, Francisco J.
Valdivia, Carmen R.
author_sort Alvarado, Francisco J.
title Ryanodine receptor mutations: in sickness and in health
title_short Ryanodine receptor mutations: in sickness and in health
title_full Ryanodine receptor mutations: in sickness and in health
title_fullStr Ryanodine receptor mutations: in sickness and in health
title_full_unstemmed Ryanodine receptor mutations: in sickness and in health
title_sort ryanodine receptor mutations: in sickness and in health
publishDate 2018
url http://sedici.unlp.edu.ar/handle/10915/127226
work_keys_str_mv AT alvaradofranciscoj ryanodinereceptormutationsinsicknessandinhealth
AT valdiviacarmenr ryanodinereceptormutationsinsicknessandinhealth
bdutipo_str Repositorios
_version_ 1764820451473752064

Ejemplares similares