Towards Mechanism-based Treatments for Fragile X Syndrome

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...

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Bibliographic Details
Main Author: Kumari, Daman (auth)
Other Authors: Gazy, Inbal (auth)
Format: Book Chapter
Published: MDPI - Multidisciplinary Digital Publishing Institute 2019
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100 1 |a Kumari, Daman  |4 auth 
700 1 |a Gazy, Inbal  |4 auth 
245 1 0 |a Towards Mechanism-based Treatments for Fragile X Syndrome 
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300 |a 1 electronic resource (250 p.) 
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520 |a 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 remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS. 
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546 |a English 
653 |a n/a 
653 |a lymphoblast 
653 |a pluripotent stem cells 
653 |a FMR1 
653 |a Gene editing 
653 |a X chromosome 
653 |a Fmr1 
653 |a epigenetic gene silencing 
653 |a FMR1 gene 
653 |a Fragile X syndrome 1 
653 |a repeat instability 
653 |a characteristics that have the greatest impact 
653 |a DNA instability 
653 |a working memory 
653 |a language development 
653 |a mosaicism 
653 |a CRISPR 3 
653 |a clinical trials 
653 |a autism spectrum disorders 
653 |a Fmr1 KO mouse 
653 |a automated vocal analysis 
653 |a base excision repair (BER) 
653 |a inhibitory control 
653 |a cerebral spinal fluid 
653 |a iPSC 
653 |a drug development 
653 |a targeted treatments 
653 |a molecular biomarkers 
653 |a viral vector 
653 |a avoidance 
653 |a biomarker 
653 |a set-shifting 
653 |a early identification 
653 |a expansion 
653 |a anxiety 
653 |a planning 
653 |a voice of the person 
653 |a mismatch repair (MMR) 
653 |a gene reactivation 
653 |a double-strand break repair (DSBR) 
653 |a newborn screening 
653 |a intellectual disability 
653 |a processing speed 
653 |a voice of the patient 
653 |a fragile X syndrome 
653 |a adeno-associated virus 
653 |a neurodevelopmental disorders 
653 |a histone methylation 
653 |a Non-homologous end-joining (NHEJ) 
653 |a ASD 
653 |a Fxr2 
653 |a Fragile X-associated Tremor/Ataxia Syndrome 2 
653 |a Trinucleotide Repeat 4 
653 |a CGG Repeat Expansion Disease 
653 |a DNA methylation 
653 |a contraction 
653 |a fragile X mental retardation protein 
653 |a RNA:DNA hybrid 
653 |a behavior 
653 |a developmental disorders 
653 |a cognition 
653 |a females 
653 |a FMRP 
653 |a Fragile X Syndrome 
653 |a unstable repeat diseases 
653 |a protein synthesis 
653 |a brain 
653 |a cognitive flexibility 
653 |a treatment development 
653 |a fibroblast 
653 |a PRC2 
653 |a transcription coupled repair (TCR) 
653 |a best practices 
653 |a attention 
653 |a Fragile X 
653 |a executive function 
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