Associated Papers
Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.
Zhang F et al.
Communications Medicine, 2025
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Lok A et al.
American Journal of Medical Genetics. Part A, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene.
Iuso A et al.
Stem Cell Research, 2022
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Iuso A et al.
American Journal of Human Genetics, 2018
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