Article
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.
JCI insight - 10 Sept 2024
Monnens Yenthe, Theodoropoulou Anastasia, Rosier Karen, Bhalla Kritika, Mahy Alexia, Vanhoutte Roeland, Meulemans Sandra, Cavani Edoardo, Antanasijevic Aleksandar, Lemmens Irma, Lee Jennifer A, Spellicy Catherine J, Schroer Richard J, Maselli Ricardo A, Laverty Chamindra G, Agostinis Patrizia, Pagliarini David J, Verhelst Steven, Marcaida Maria J, Rochtus Anne, Dal Peraro Matteo, Creemers John Wm
Abstract excerpt
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 variants in PREPL, but nothing is known about the effect of missense variants in the pathology of CMS22. In this study, we have functionally characterized missense variants in...
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