The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2

Autosomal dominant polycystic kidney disease is caused by mutations in PKD1 or PKD2 genes. The latter encodes polycystin-2 (PC2, also known as TRPP2), a member of the transient receptor potential ion channel family. Despite most pathogenic mutations in PKD2 being truncation variants, there are also...

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Detalles Bibliográficos
Autores principales: Wang, Yan, Wang, Zhifei, Pavel, Mahmud Arif, Ng, Courtney, Kashyap, Parul, Li, Bin, Morais, Tiago D.C., Ulloa, Gabriella A., Yu, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10192930/
https://www.ncbi.nlm.nih.gov/pubmed/37028763
http://dx.doi.org/10.1016/j.jbc.2023.104674

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10192930/
https://www.ncbi.nlm.nih.gov/pubmed/37028763
http://dx.doi.org/10.1016/j.jbc.2023.104674

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