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

Pathogenesis of Cardiomyopathy Caused by Variants in <i>ALPK3</i> , 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.We explored the putative kinase activity o...

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Detaylı Bibliyografya
Asıl Yazarlar: Radhika Agarwal, Hiroko Wakimoto, João A. Paulo, Qi Zhang, Daniel Reichart, Christopher N. Toepfer, Arun Sharma, Angela C. Tai, Mingyue Lun, Joshua M. Gorham, Steven R. DePalma, Steven P. Gygi, Jonathan G. Seidman, Christine E. Seidman
Materyal Türü: Artigo
Dil:İngilizce
Baskı/Yayın Bilgisi: 2022
Online Erişim:https://doi.org/10.1161/circulationaha.122.059688
Etiketler: Etiketle
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https://doi.org/10.1161/circulationaha.122.059688

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