Ontology highlight
ABSTRACT:
SUBMITTER: Hiess F
PROVIDER: S-EPMC8888588 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature
Hiess Florian F Yao Jinjing J Song Zhenpeng Z Sun Bo B Zhang Zizhen Z Huang Junting J Chen Lina L Institoris Adam A Estillore John Paul JP Wang Ruiwu R Ter Keurs Henk E D J HEDJ Stys Peter K PK Gordon Grant R GR Zamponi Gerald W GW Ganguly Anutosh A Chen S R Wayne SRW
Communications biology 20220301 1
Ryanodine receptor 2 (RyR2) is abundantly expressed in the heart and brain. Mutations in RyR2 are associated with both cardiac arrhythmias and intellectual disability. While the mechanisms of RyR2-linked arrhythmias are well characterized, little is known about the mechanism underlying RyR2-associated intellectual disability. Here, we employed a mouse model expressing a green fluorescent protein (GFP)-tagged RyR2 and a specific GFP probe to determine the subcellular localization of RyR2 in hippo ...[more]