Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky Ca(2+) channels and activation of store-operated Ca(2+) entry

Mutations in all subtypes of the inositol 1,4,5-trisphosphate receptor Ca(2+) release channel are associated with human diseases. In this report, we investigated the functionality of three neuropathy-associated missense mutations in IP(3)R3 (V615M, T1424M, and R2524C). The mutants only exhibited fun...

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Detalles Bibliográficos
Autores principales: Terry, Lara E., Arige, Vikas, Neumann, Julika, Wahl, Amanda M., Knebel, Taylor R., Chaffer, James W., Malik, Sundeep, Liston, Adrian, Humblet-Baron, Stephanie, Bultynck, Geert, Yule, David I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700043/
https://www.ncbi.nlm.nih.gov/pubmed/36444295
http://dx.doi.org/10.1016/j.isci.2022.105523

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700043/
https://www.ncbi.nlm.nih.gov/pubmed/36444295
http://dx.doi.org/10.1016/j.isci.2022.105523

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