Yenthe Monnens
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View article: Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions Open
Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a rare genetic disorder caused by deleterious genetic variation in the prolyl endopeptidase-like (PREPL) gene. Previous reports have described patients with deletions and nonsense v…
View article: Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions
Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions Open
Congenital myasthenic syndrome-22 (CMS22) is a rare genetic disorder caused by mutations in the prolyl endopeptidase-like ( PREPL ) gene. Since previous reports only described patients with deletions and nonsense mutations in PREPL , nothi…
View article: Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome Open
Loss of prolyl endopeptidase-like ( PREPL ) encoding a serine hydrolase with (thio)esterase activity leads to the recessive metabolic disorder Congenital Myasthenic Syndrome-22 (CMS22). It is characterized by severe neonatal hypotonia, fee…