Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere

ALPK3 encodes α-kinase 3, a muscle-specific protein of unknown function. ALPK3 loss-of-function variants cause cardiomyopathy with distinctive clinical manifestations in both children and adults, but the molecular functions of ALPK3 remain poorly understood. METHODS: We explored the putative kinase...

Descripción completa

Detalles Bibliográficos
Autores principales: Agarwal, Radhika, Wakimoto, Hiroko, Paulo, Joao A., Zhang, Qi, Reichart, Daniel, Toepfer, Christopher, Sharma, Arun, Tai, Angela C., Lun, Mingyue, Gorham, Joshua, DePalma, Steven R., Gygi, Steven P., Seidman, J.G., Seidman, Christine E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Original Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9698156/
https://www.ncbi.nlm.nih.gov/pubmed/36321451
http://dx.doi.org/10.1161/CIRCULATIONAHA.122.059688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9698156/
https://www.ncbi.nlm.nih.gov/pubmed/36321451
http://dx.doi.org/10.1161/CIRCULATIONAHA.122.059688

Ejemplares similares