Article
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Cells - 21 Sept 2023
Tassone Flora, Protic Dragana, Allen Emily Graves, Archibald Alison D, Baud Anna, Brown Ted W, Budimirovic Dejan B, Cohen Jonathan, Dufour Brett, Eiges Rachel, Elvassore Nicola, Gabis Lidia V, Grudzien Samantha J, Hall Deborah A, Hessl David, Hogan Abigail, Hunter Jessica Ezzell, Jin Peng, Jiraanont Poonnada, Klusek Jessica, Kooy R Frank, Kraan Claudine M, Laterza Cecilia, Lee Andrea, Lipworth Karen, Losh Molly, Loesch Danuta, Lozano Reymundo, Mailick Marsha R, Manolopoulos Apostolos, Martinez-Cerdeno Veronica, McLennan Yingratana, Miller Robert M, Montanaro Federica Alice Maria, Mosconi Matthew W, Potter Sarah Nelson, Raspa Melissa, Rivera Susan M, Shelly Katharine, Todd Peter K, Tutak Katarzyna, Wang Jun Yi, Wheeler Anne, Winarni Tri Indah, Zafarullah Marwa, Hagerman Randi J
Abstract excerpt
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci...
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