A quantitative homogeneous assay for fragile X mental retardation 1 protein

@inproceedings{Schutzius2012AQH,
  title={A quantitative homogeneous assay for fragile X mental retardation 1 protein},
  author={Gabi Schutzius and Doroth{\'e}e Bleckmann and Sandra Kapps-Fouthier and Francesco Paolo Di Giorgio and Bernd Gerhartz and Andreas M. Weiss},
  booktitle={Journal of Neurodevelopmental Disorders},
  year={2012}
}
Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, 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 syndrome are thus aimed at treatments that increase the FMRP expression levels in the brain. We describe the development and characterization of two assays for simple and… CONTINUE READING