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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Detalhes bibliográficos
Main Authors: Kumari, Daman, Gazy, Inbal
Formato: Livro
Idioma:Inglês
Publicado em: MDPI - Multidisciplinary Digital Publishing Institute 2019
Assuntos:
QH301-705.5
Q1-390
thema EDItEUR::P Mathematics and Science::PS 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
Acesso em linha:https://directory.doabooks.org/handle/20.500.12854/61057
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