Publications by authors named "A E Belkadi"
Alcohol dehydrogenase 1B (ADH1B) is a primate-specific enzyme which, uniquely among the ADH class 1 family, is highly expressed both in adipose tissue and liver. Its expression in adipose tissue is reduced in obesity and increased by insulin stimulation. Interference with expression has also been reported to impair adipocyte function.
View Article and Find Full Text PDFArticle Synopsis
- TRPM4 is a calcium-activated channel that influences immune cell functions, and mutations in this gene are linked to heart issues but not previously studied for immune problems.
- This study investigates immune dysregulation in a patient with a TRPM4 mutation using various biological techniques, revealing that complete loss of TRPM4 causes heightened vulnerability to bacterial and fungal infections through impaired immune cell migration.
- Findings confirm that TRPM4 is essential for the proper migration of immune cells, suggesting that its dysfunction may lead to increased infection risk.
Introduction: Various tests have been developed to evaluate aerobic fitness and performance of runners. However, a systematic understanding of which methods are more accurate is necessary to provide coaches and the sports sciences community with useful and confident outcomes. This study aims to summarize the evidence regarding the validity, reliability and sensitivity of tests for measuring aerobic fitness and performance in runners of several background of training.
View Article and Find Full Text PDFBackground: Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of BBS.
Case Presentation: A patient with an unclear diagnosis of syndromic type 2 diabetes mellitus, another affected sibling and unaffected siblings and parents were sequenced using DNA extracted from saliva samples.
Environmental factors, including pesticide exposure, have been identified as substantial contributors to neurodegeneration and cognitive impairments. Previously, we demonstrated that repeated exposure to deltamethrin induces endoplasmic reticulum (ER) stress, reduces hippocampal neurogenesis, and impairs cognition in adult mice. Here, we investigated the potential relationship between ER stress and hippocampal neurogenesis following exposure to deltamethrin, utilizing both pharmacological and genetic approaches.
View Article and Find Full Text PDF