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Towards Mechanism-based Treatments for Fragile X Syndrome

dc.contributor.authorKumari, Daman*
dc.contributor.authorGazy, Inbal*
dc.date.accessioned2021-02-12T06:10:59Z
dc.date.available2021-02-12T06:10:59Z
dc.date.issued2019*
dc.date.submitted2019-12-09 11:49:15*
dc.identifier42526*
dc.identifier.urihttps://directory.doabooks.org/handle/20.500.12854/61057
dc.description.abstractIt 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.*
dc.languageEnglish*
dc.subjectQH301-705.5*
dc.subjectQ1-390*
dc.subject.classificationthema EDItEUR::P Mathematics and Science::PS Biology, life sciencesen_US
dc.subject.othern/a*
dc.subject.otherlymphoblast*
dc.subject.otherpluripotent stem cells*
dc.subject.otherFMR1*
dc.subject.otherGene editing*
dc.subject.otherX chromosome*
dc.subject.otherFmr1*
dc.subject.otherepigenetic gene silencing*
dc.subject.otherFMR1 gene*
dc.subject.otherFragile X syndrome 1*
dc.subject.otherrepeat instability*
dc.subject.othercharacteristics that have the greatest impact*
dc.subject.otherDNA instability*
dc.subject.otherworking memory*
dc.subject.otherlanguage development*
dc.subject.othermosaicism*
dc.subject.otherCRISPR 3*
dc.subject.otherclinical trials*
dc.subject.otherautism spectrum disorders*
dc.subject.otherFmr1 KO mouse*
dc.subject.otherautomated vocal analysis*
dc.subject.otherbase excision repair (BER)*
dc.subject.otherinhibitory control*
dc.subject.othercerebral spinal fluid*
dc.subject.otheriPSC*
dc.subject.otherdrug development*
dc.subject.othertargeted treatments*
dc.subject.othermolecular biomarkers*
dc.subject.otherviral vector*
dc.subject.otheravoidance*
dc.subject.otherbiomarker*
dc.subject.otherset-shifting*
dc.subject.otherearly identification*
dc.subject.otherexpansion*
dc.subject.otheranxiety*
dc.subject.otherplanning*
dc.subject.othervoice of the person*
dc.subject.othermismatch repair (MMR)*
dc.subject.othergene reactivation*
dc.subject.otherdouble-strand break repair (DSBR)*
dc.subject.othernewborn screening*
dc.subject.otherintellectual disability*
dc.subject.otherprocessing speed*
dc.subject.othervoice of the patient*
dc.subject.otherfragile X syndrome*
dc.subject.otheradeno-associated virus*
dc.subject.otherneurodevelopmental disorders*
dc.subject.otherhistone methylation*
dc.subject.otherNon-homologous end-joining (NHEJ)*
dc.subject.otherASD*
dc.subject.otherFxr2*
dc.subject.otherFragile X-associated Tremor/Ataxia Syndrome 2*
dc.subject.otherTrinucleotide Repeat 4*
dc.subject.otherCGG Repeat Expansion Disease*
dc.subject.otherDNA methylation*
dc.subject.othercontraction*
dc.subject.otherfragile X mental retardation protein*
dc.subject.otherRNA:DNA hybrid*
dc.subject.otherbehavior*
dc.subject.otherdevelopmental disorders*
dc.subject.othercognition*
dc.subject.otherfemales*
dc.subject.otherFMRP*
dc.subject.otherFragile X Syndrome*
dc.subject.otherunstable repeat diseases*
dc.subject.otherprotein synthesis*
dc.subject.otherbrain*
dc.subject.othercognitive flexibility*
dc.subject.othertreatment development*
dc.subject.otherfibroblast*
dc.subject.otherPRC2*
dc.subject.othertranscription coupled repair (TCR)*
dc.subject.otherbest practices*
dc.subject.otherattention*
dc.subject.otherFragile X*
dc.subject.otherexecutive function*
dc.titleTowards Mechanism-based Treatments for Fragile X Syndrome*
dc.typebook
oapen.identifier.doi10.3390/books978-3-03921-506-5*
oapen.relation.isPublishedBy46cabcaa-dd94-4bfe-87b4-55023c1b36d0*
oapen.relation.isbn9783039215065*
oapen.relation.isbn9783039215058*
oapen.pages250*
oapen.edition1st*


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