Melania Muscas

Melania Muscas
The University of Edinburgh | UoE · Centre for Integrative Physiology

About

7
Publications
625
Reads
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92
Citations
Citations since 2016
7 Research Items
92 Citations
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201620172018201920202021202205101520

Publications

Publications (7)
Article
Significance statement The statin drug lovastatin normalizes excessive protein synthesis and thereby ameliorates pathological changes in animal models of Fragile X Syndrome (FX), the most commonly identified genetic cause of autism. Recently, we compared the efficacy of lovastatin to the more potent and brain-penetrant drug simvastatin for correcti...
Article
The cholesterol-lowering drug lovastatin corrects neurological phenotypes in animal models of fragile X syndrome (FX), a commonly identified genetic cause of autism and intellectual disability (ID). The therapeutic efficacy of lovastatin is being tested in clinical trials for FX; however, the structurally similar drug simvastatin has been proposed...
Preprint
The cholesterol-lowering drug lovastatin corrects neurological phenotypes in animal models of fragile X syndrome (FX), a commonly identified genetic cause of autism and intellectual disability. The therapeutic efficacy of lovastatin is being tested in clinical trials for FX, however the structurally similar drug simvastatin has been proposed as an...
Article
Full-text available
Excessive mRNA translation downstream of group I metabotropic glutamate receptors (mGlu1/5) is a core pathophysiology of fragile X syndrome (FX); however, the differentially translating mRNAs that contribute to altered neural function are not known. We used translating ribosome affinity purification (TRAP) and RNA-seq to identify mistranslating mRN...
Article
Background and purpose: Disease severity varies considerably among patients with Spinal and Bulbar Muscular Atrophy (SBMA). Our aim was to investigate the role of androgen receptor (AR) polymorphic repeats in SBMA phenotype. Methods: We analyzed the length of AR polyQ and polyG tracts in 159 SBMA patients. Results: No relationship between poly...

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