Schutzius, Gabi, Bleckmann, Dorothee, Kapps-Fouthier, Sandra, Di Giorgio, Francesco, Gerhartz, Bernd and Weiss, Andreas (2013) A high-throughput compatible quantitative homogenous assay for Fragile X Mental Retardation 1 Protein. Journal for Neurodevelopmental Disorders, 5 (1). p. 8. ISSN 1866-1947

Abstract

Hypermethylation of the FMR1 gene results in decreased expression of FMRP protein which is the underlying cause of Fragile X Syndrome, an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism. Disease modifying therapies for Fragile X are thus aimed at treatments increasing FMRP expression levels in the brain. Here we describe the development and characterization of two homogenous immunoassays for quantitative detection of FMRP protein using time-resolved FRET. The assays display high stability and reproducibility and can be used to quantify endogenous FMRP in human fibroblast. Importantly, due to the simplicity of the assay protocol, the method is well suited to be used in high-throughput screening applications to identify compounds or genetic interventions that result in increased FMRP levels in human cells.

Item Type:	Article
Keywords:	Fragile X Syndrome, FMRP, time-resolved FRET, immunoassay, high-throughput screening
Date Deposited:	13 Oct 2015 13:13
Last Modified:	04 Jul 2016 23:46
URI:	https://oak.novartis.com/id/eprint/9459