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Kritika Bhalla

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Recent Articles
1.
Monnens Y, Theodoropoulou A, Rosier K, Bhalla K, Mahy A, Vanhoutte R, et al.
JCI Insight . 2024 Jul; 9(17). PMID: 39078710
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...
2.
Bhalla K, Rosier K, Monnens Y, Meulemans S, Vervoort E, Thorrez L, et al.
Biochim Biophys Acta Mol Basis Dis . 2024 Apr; 1870(5):167175. PMID: 38626828
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, feeding...
3.
Rosier K, McDevitt M, Smet J, Floyd B, Verschoore M, Marcaida M, et al.
iScience . 2021 Dec; 24(12):103460. PMID: 34888501
Deficiency of the serine hydrolase prolyl endopeptidase-like (PREPL) causes a recessive metabolic disorder characterized by neonatal hypotonia, feeding difficulties, and growth hormone deficiency. The pathophysiology of PREPL deficiency and the...