Publications by authors named "Kritika Bhalla"
Article Synopsis
- Congenital myasthenic syndrome-22 (CMS22) is a rare genetic condition linked to variations in the PREPL gene, with previous research focusing mainly on deletions and nonsense mutations.
- This study investigates missense variants in PREPL from three CMS22 patients, revealing that these variants do not affect hydrolase activity, which contradicts existing diagnostic standards.
- Structural analysis indicates that these missense variants interfere with protein interactions and highlight the significance of PREPL's nonhydrolytic functions, suggesting that CMS22 can arise from different types of genetic changes beyond just deletions.
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome.
Biochim Biophys Acta Mol Basis Dis
June 2024
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 problems, growth retardation, and hyperphagia leading to rapid weight gain later in childhood. The phenotypic similarities with Prader-Willi syndrome (PWS) are striking, suggesting that similar pathways are affected.
View Article and Find Full Text PDFDeficiency 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 physiological substrates of PREPL remain largely unknown. In this study, we connect PREPL with mitochondrial gene expression and oxidative phosphorylation by analyzing its protein interactors.
View Article and Find Full Text PDF