Publications by authors named "K F Des Rosier"
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.
Infantile hypercalcemia (IH) is a rare genetic disorder characterized by hypercalcemia, hypercalciuria, low parathyroid hormone, and nephrocalcinosis during the first months of life. Biallelic variants in the genes CYP24A1 and SCL34A1 cause IH1 and 2, respectively. We present the case of a newborn with an antenatal diagnosis of IH2 due to the identification of echogenic, yet normal-sized kidneys at 23 weeks gestation.
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- Aortic aneurysms (AA) often happen because of problems with a protein called TGF-β, and researchers were looking at a gene called FURIN that helps process this protein.
- They found rare changes in the FURIN gene in some patients with aortic aneurysms, and these changes were linked to more serious health issues.
- The study suggests that FURIN is an important gene that can increase the chances of having different types of aortic aneurysms, and how it affects people can vary based on their unique genetics.
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.
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