1. Iuso, Arcangela, Zhang, Fangfang, Rusha, Ejona, Laugwitz, Karl-Ludwig, Moretti, Alessandra. 2022. Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene. In Stem cell research, 61, 102773. doi:10.1016/j.scr.2022.102773. https://pubmed.ncbi.nlm.nih.gov/35397396/
2. Lok, Aishin, Fernandez-Garcia, Miguel A, Taylor, Robert W, Milan, Anna, Singh, Rahul R. 2022. Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders. In American journal of medical genetics. Part A, 188, 2783-2789. doi:10.1002/ajmg.a.62848. https://pubmed.ncbi.nlm.nih.gov/35616428/
3. Iuso, Arcangela, Wiersma, Marit, Schüller, Hans-Joachim, Sibon, Ody C M, Anikster, Yair. 2018. Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. In American journal of human genetics, 102, 1018-1030. doi:10.1016/j.ajhg.2018.03.022. https://pubmed.ncbi.nlm.nih.gov/29754768/