From wings to whiskers to stem cells: why every model matters in fragile X syndrome research
Year: 2024
Type: review
Abstract: Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It is the most prevalent inherited form of intellectual disability and the highest single genetic cause of autism. Since the discovery of the genetic basis of FXS, extensive studies using animal models and human pluripotent stem cells have unveiled the functions of FMRP and mechanisms underlying FXS. However, clinical trials have not yielded successful treatment. Here we review what we have learned from commonly used models for FXS, potential limitations of these models, and recommendations for future steps.
Institution: University of Wisconsin–Madison
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,890
Funders: U.S. Department of Defense, FRAXA Research Foundation, Waisman Center, Eagles Autism Foundation, National Institutes of Health, National Institute of Mental Health, National Institute of General Medical Sciences, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: The role of RNA binding protein in FXR1P in interneurons, G4119534169, G5850682332, The Role of MDM2 in FMRP regulation of neuronal development, Interrogate FMRP functions in primate brain development, Waisman Center Intellectual and Developmental Disabilities Research Center, Graduate Training in Molecular and Cellular Pharmacology, Characterization of Fragile X Syndrome 3D Cortical Organoids
OpenAlex ID: W4399694825