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Loss-of-Function Piezo1 Mutations Display Altered Stability Driven by Ubiquitination and Proteasomal Degradation

Missense mutations in the gene that encodes for the mechanically-gated ion channel Piezo1 have been linked to a number of diseases. Gain-of-function variants are linked to a hereditary anaemia and loss-of-function variants have been linked to generalized lymphatic dysplasia and bicuspid aortic valve...

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Detalles Bibliográficos
Autores principales: Zhou, Zijing, Li, Jinyuan Vero, Martinac, Boris, Cox, Charles D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8640252/
https://www.ncbi.nlm.nih.gov/pubmed/34867393
http://dx.doi.org/10.3389/fphar.2021.766416