ALPK3

Publications

Almomani R et al. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. J Am Coll Cardiol. 2016;67(5):515-25. PMID: 26846950.

Çağlayan AO et al. ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. Cold Spring Harb Mol Case Stud. 2017;3(5):a001859. PMID: 28630369.

Herkert JC et al. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. Am Heart J. 2020.

Jaouadi H et al. Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. J Hum Genet. 2018;63(10):1077-1082. PMID: 30046096.

Phelan DG 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;37(33):2586-90. PMID: 27106955.

Al Senaidi K et al. Phenotypic spectrum of ALPK3-related cardiomyopathy. Am J Med Genet A. 2019;179(7):1235-1240. PMID: 31074094.

van Sligtenhorst I et al. Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice. Vet Pathol. 2012;49(1):131-41. PMID: 21441111.