Towards Mechanism-based Treatments for Fragile X Syndrome

• Main Author: Kumari, Daman (auth)
• Other Authors: Gazy, Inbal (auth)
• Format: Electronic Book Chapter
• Language: English
• Published: MDPI - Multidisciplinary Digital Publishing Institute 2019
• Subjects: Biology, life sciences; n/a; lymphoblast; pluripotent stem cells; FMR1; Gene editing; X chromosome; Fmr1; epigenetic gene silencing; FMR1 gene; Fragile X syndrome 1; repeat instability; characteristics that have the greatest impact; DNA instability; working memory; language development; mosaicism; CRISPR 3; clinical trials; autism spectrum disorders; Fmr1 KO mouse; automated vocal analysis; base excision repair (BER); inhibitory control; cerebral spinal fluid; iPSC; drug development; targeted treatments; molecular biomarkers; viral vector; avoidance; biomarker; set-shifting; early identification; expansion; anxiety; planning; voice of the person; mismatch repair (MMR); gene reactivation; double-strand break repair (DSBR); newborn screening; intellectual disability; processing speed; voice of the patient; fragile X syndrome; adeno-associated virus; neurodevelopmental disorders; histone methylation; Non-homologous end-joining (NHEJ); ASD; Fxr2; Fragile X-associated Tremor/Ataxia Syndrome 2; Trinucleotide Repeat 4; CGG Repeat Expansion Disease; DNA methylation; contraction; fragile X mental retardation protein; RNA:DNA hybrid; behavior; developmental disorders; cognition; females; FMRP; Fragile X Syndrome; unstable repeat diseases; protein synthesis; brain; cognitive flexibility; treatment development; fibroblast; PRC2; transcription coupled repair (TCR); best practices; attention; Fragile X; executive function
• Online Access: DOAB: download the publication; DOAB: description of the publication

It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still r...