Journal article

Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets

Rahul Krishnaraj, Florencia Haase, Bronte Coorey, Edward J Luca, Ingar Wong, Alexandra Boyling, Carolyn Ellaway, John Christodoulou, Wendy A Gold

Human Mutation | WILEY | Published : 2019


The discovery that Rett syndrome is caused by mutations in the MECP2 gene has provided a major breakthrough in our understanding of the disorder. However, despite this, there is still limited understanding of the underlying pathophysiology of the disorder hampering the development of curative treatments. Over the years, a number of animal models have been developed contributing to our knowledge on the role of MECP2 in development and improving our understanding of how subtle expression levels affect brain morphology and function. Transcriptomic and proteomic studies of animal models are useful in identifying perturbations in functional pathways and providing avenues for novel areas of resear..

View full abstract


Funding Acknowledgements

This study was supported by the Rett Syndrome Association of Australia and the International Rett Syndrome Foundation. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The authors declare that there are no commercial or other conflicts of interest in connection with this study.