Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

• Main Authors: Malgorzata Drozd (Author), Sébastien Delhaye (Author), Thomas Maurin (Author), Sara Castagnola (Author), Mauro Grossi (Author), Frédéric Brau (Author), Marielle Jarjat (Author), Rob Willemsen (Author), Maria Capovilla (Author), Renate K. Hukema (Author), Enzo Lalli (Author), Barbara Bardoni (Author)
• Format: Book
• Published: Elsevier, 2019-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Fragile X-associated tremor ataxia syndrome (FXTAS) is a rare disorder associated to the presence of the fragile X premutation, a 55-200 CGG repeat expansion in the 5' UTR of the FMR1 gene. Two main neurological phenotypes have been described in carriers of the CGG premutation: (1) neurodevelop...