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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society for Biochemistry and Molecular Biology
2023
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| Materias: | |
| 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 |