Fragile X syndrome: from molecular pathology to therapy

T Maurin, S Zongaro, B Bardoni - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Abstract Fragile X Syndrome (FXS) is the most common form of inherited intellectual
disability due to the silencing of the FMR1 gene encoding FMRP (Fragile X Mental …

Fragile X syndrome: A review of clinical management

R Lozano, A Azarang, T Wilaisakditipakorn… - Intractable & rare …, 2016 - jstage.jst.go.jp
The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1
protein, usually has 5 to 40 CGG repeats in the 5'untranslated promoter. The full mutation is …

Fragile x syndrome

Y McLennan, J Polussa, F Tassone… - Current …, 2011 - ingentaconnect.com
Recent data from a national survey highlighted a significant difference in obesity rates in
young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome …

Fragile X syndrome and targeted treatment trials

R Hagerman, J Lauterborn, J Au… - Modeling fragile X …, 2012 - Springer
Work in recent years has revealed an abundance of possible new treatment targets for
fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse …

Benefits of agomelatine in behavioral, neurochemical and blood brain barrier alterations in prenatal valproic acid induced autism spectrum disorder

H Kumar, BM Sharma, B Sharma - Neurochemistry International, 2015 - Elsevier
Valproic acid administration during gestational period causes behavior and biochemical
deficits similar to those observed in humans with autism spectrum disorder. Although …

Long-lasting effects of minocycline on behavior in young but not adult Fragile X mice

LE Dansie, K Phommahaxay, AG Okusanya, J Uwadia… - Neuroscience, 2013 - Elsevier
Fragile X Syndrome (FXS) is the most common single-gene inherited form of intellectual
disability with behaviors characteristic of autism. People with FXS display childhood …

Sleep as a translationally-relevant endpoint in studies of autism spectrum disorder (ASD)

G Missig, CJ McDougle, WA Carlezon Jr - Neuropsychopharmacology, 2020 - nature.com
Sleep has numerous advantages for aligning clinical and preclinical (basic neuroscience)
studies of neuropsychiatric illness. Sleep has high translational relevance, because the …

Unstable Mutations in the FMR1 Gene and the Phenotypes

D Loesch, R Hagerman - … : Genetic plasticity, neural diversity and disease, 2012 - Springer
Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest
disorders linked to an unstable ('dynamic') mutation, is caused by the large (> 200) CGG …

Sleep, plasticity and the pathophysiology of neurodevelopmental disorders: the potential roles of protein synthesis and other cellular processes

D Picchioni, RM Reith, JL Nadel, CB Smith - Brain sciences, 2014 - mdpi.com
Sleep is important for neural plasticity, and plasticity underlies sleep-dependent memory
consolidation. It is widely appreciated that protein synthesis plays an essential role in neural …

[HTML][HTML] Molecular advances leading to treatment implications for fragile X premutation carriers

J Polussa, A Schneider, R Hagerman - Brain disorders & therapy, 2014 - ncbi.nlm.nih.gov
Fragile X syndrome (FXS) is the most common single gene cause of intellectual disability
and it is characterized by a CGG expansion of more than 200 repeats in the FMR1 gene …