Alpha-protein kinase 3

Definition:

Involved in cardiomyocyte differentiation.

References:

[1]. Dean G Phelan, et al. ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy. Eur Heart J. 2016 Sep 1;37(33):2586-90. [Content Brief]

[2]. Rowida Almomani, et al. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. [Content Brief]

[3]. Hager Jaouadi, et al. Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. J Hum Genet. 2018 Oct;63(10):1077-1082. [Content Brief]

[4]. Ahmet Okay Çağlayan, et al. ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001859. [Content Brief]

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