Morphological and molecular studies of synaptic memory mechanisms: Links to the fragile X mental retardation syndrome.

2001 ◽  
pp. 59-77 ◽  
Author(s):  
William T. Greenough
Keyword(s):  
Mental Retardation ◽  
Fragile X ◽  
Fragile X Mental Retardation ◽  
Molecular Studies

scholarly journals ASFMR1splice variant

2018 ◽  
Vol 4 (4) ◽  
pp. e246 ◽  
Author(s):  
Padmaja Vittal ◽  
Shrikant Pandya ◽  
Kevin Sharp ◽  
Elizabeth Berry-Kravis ◽  
Lili Zhou ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Splice Variant ◽  
Messenger Rna ◽  
Clinical Symptoms ◽  
Fragile X ◽  
Cgg Repeat ◽  
Men And Women ◽  
Fragile X Mental Retardation ◽  
Repeat Size ◽  
Ataxia Syndrome

ObjectiveTo explore the association of a splice variant of theantisense fragile X mental retardation 1(ASFMR1) gene, loss offragile X mental retardation 1(FMR1) AGG interspersions andFMR1CGG repeat size with manifestation, and severity of clinical symptoms of fragile X-associated tremor/ataxia syndrome (FXTAS).MethodsPremutation carriers (PMCs) with FXTAS, without FXTAS, and normal controls (NCs) had a neurologic evaluation and collection of skin and blood samples. Expression ofASFMR1transcript/splice variant 2 (ASFMR1-TV2), nonsplicedASFMR1, totalASFMR1, andFMR1messenger RNA were quantified and compared using analysis of variance. Least absolute shrinkage and selection operator (LASSO) logistic regression and receiver operating characteristic analyses were performed.ResultsPremutation men and women both with and without FXTAS had higherASFMR1-TV2 levels compared with NC men and women (n = 135,135,p< 0.0001), andASFMR1-TV2 had good discriminating power for FXTAS compared with NCs but not for FXTAS from PMC. After adjusting for age, loss of AGG, larger CGG repeat size (in men), and elevatedASFMR1-TV2 level (in women) were strongly associated with FXTAS compared with NC and PMC (combined).ConclusionsThis study found elevated levels ofASFMR1-TV2and loss of AGG interruptions in both men and women with FXTAS. Future studies will be needed to determine whether these variables can provide useful diagnostic or predictive information.

scholarly journals Structural Studies of the Tandem Tudor Domains of Fragile X Mental Retardation Related Proteins FXR1 and FXR2

PLoS ONE ◽  
2010 ◽  
Vol 5 (11) ◽  
pp. e13559 ◽  
Author(s):  
Melanie A. Adams-Cioaba ◽  
Yahong Guo ◽  
ChuanBing Bian ◽  
Maria F. Amaya ◽  
Robert Lam ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Fragile X ◽  
Structural Studies ◽  
Fragile X Mental Retardation ◽  
Related Proteins

scholarly journals A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots

2018 ◽  
Vol 9 ◽  
Author(s):  
Vivienne J. Tan ◽  
Mulias Lian ◽  
Sultana M.H. Faradz ◽  
Tri I. Winarni ◽  
Samuel S. Chong
Keyword(s):  
Mental Retardation ◽  
Fragile X ◽  
Dried Blood Spots ◽  
Blood Spots ◽  
Fragile X Mental Retardation
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