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210512 ||| eng |
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|a 9783039215058
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|a books978-3-03921-506-5
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|a 9783039215065
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| 100 |
1 |
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|a Kumari, Daman
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| 245 |
0 |
0 |
|a Towards Mechanism-based Treatments for Fragile X Syndrome
|h Elektronische Ressource
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| 260 |
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|b MDPI - Multidisciplinary Digital Publishing Institute
|c 2019
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| 300 |
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|a 1 electronic resource (250 p.)
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| 653 |
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|a autism spectrum disorders
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| 653 |
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|a X chromosome
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|a cognitive flexibility
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|a inhibitory control
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|a CRISPR 3
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|a double-strand break repair (DSBR)
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|a cognition
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|a working memory
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|a repeat instability
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|a DNA instability
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|a n/a
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|a ASD
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| 653 |
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|a protein synthesis
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| 653 |
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|a automated vocal analysis
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| 653 |
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|a Fxr2
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| 653 |
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|a executive function
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| 653 |
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|a unstable repeat diseases
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| 653 |
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|a developmental disorders
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| 653 |
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|a histone methylation
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| 653 |
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|a RNA:DNA hybrid
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| 653 |
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|a mismatch repair (MMR)
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|a adeno-associated virus
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|a fragile X syndrome
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|a CGG Repeat Expansion Disease
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|a brain
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|a clinical trials
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|a base excision repair (BER)
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|a FMRP
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| 653 |
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|a Non-homologous end-joining (NHEJ)
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| 653 |
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|a language development
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| 653 |
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|a molecular biomarkers
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| 653 |
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|a pluripotent stem cells
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| 653 |
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|a Fragile X
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| 653 |
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|a Fragile X Syndrome
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|a neurodevelopmental disorders
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|a Fragile X syndrome 1
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|a PRC2
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|a processing speed
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|a voice of the patient
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| 653 |
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|a early identification
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|a iPSC
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|a DNA methylation
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|a planning
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|a FMR1 gene
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|a cerebral spinal fluid
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|a viral vector
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|a Biology, life sciences / bicssc
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|a newborn screening
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|a behavior
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|a voice of the person
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|a fibroblast
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|a drug development
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|a biomarker
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|a intellectual disability
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|a Gene editing
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|a set-shifting
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|a best practices
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|a Fmr1 KO mouse
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|a treatment development
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|a anxiety
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| 653 |
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|a fragile X mental retardation protein
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| 653 |
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|a mosaicism
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| 653 |
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|a Fmr1
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|a Fragile X-associated Tremor/Ataxia Syndrome 2
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| 653 |
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|a contraction
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|a targeted treatments
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|a epigenetic gene silencing
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|a characteristics that have the greatest impact
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|a transcription coupled repair (TCR)
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|a expansion
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|a females
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|a Trinucleotide Repeat 4
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|a avoidance
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|a lymphoblast
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|a attention
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| 653 |
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|a FMR1
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| 653 |
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|a gene reactivation
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| 700 |
1 |
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|a Gazy, Inbal
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| 041 |
0 |
7 |
|a eng
|2 ISO 639-2
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| 989 |
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|b DOAB
|a Directory of Open Access Books
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| 500 |
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|a Creative Commons (cc), https://creativecommons.org/licenses/by-nc-nd/4.0/
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| 024 |
8 |
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|a 10.3390/books978-3-03921-506-5
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| 856 |
4 |
2 |
|u https://directory.doabooks.org/handle/20.500.12854/61057
|z DOAB: description of the publication
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| 856 |
4 |
0 |
|u https://www.mdpi.com/books/pdfview/book/1554
|7 0
|x Verlag
|3 Volltext
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| 082 |
0 |
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|a 400
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|a 610
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|a 333
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|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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