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

Human Mutation
Rahul KrishnarajWendy A Gold

Abstract

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 of 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 research into disease. This review focuses on published transcriptomic and proteomic studies of mouse models of Rett syndrome with the aim of providing a summary of all the studies, the reported dysregulated genes and functional pathways that are found to be perturbed. The 36 articles identified highlighted a number of dysfunctional pathways as well as perturbed biological networks and cellular functions including synaptic dysfunction and neuronal transmission, inflammation, and mitochondrial dysfunction. These data reveal biological insights that...Continue Reading

References

Mar 15, 2001·Disability and Rehabilitation·C Ellaway, J Christodoulou
Sep 11, 2002·Biochimica Et Biophysica Acta·Hermann Schägger
Nov 15, 2002·Proceedings of the National Academy of Sciences of the United States of America·Matthew TudorRudolf Jaenisch
Mar 23, 2004·Nucleic Acids Research·Skirmantas Kriaucionis, Adrian Bird
May 7, 2004·Proceedings of the National Academy of Sciences of the United States of America·Valéry Matarazzo, Gabriele V Ronnett
Jul 9, 2005·Human Molecular Genetics·Ulrike A NuberAdrian Bird
Jul 15, 2005·European Journal of Human Genetics : EJHG·Julie C EvansAngus J Clarke
Jun 20, 2006·Molecular and Cellular Biology·Skirmantas KriaucionisAdrian Bird
Jun 24, 2008·American Journal of Human Genetics·Francesca ArianiAlessandra Renieri
Nov 8, 2008·PloS One·Rocio G UrdinguioManel Esteller
Apr 17, 2009·Human Molecular Genetics·Shay Ben-ShacharHuda Y Zoghbi
Jul 1, 2009·Journal of Medical Genetics·C PhilippeP Jonveaux
Apr 29, 2010·American Journal of Medical Genetics. Part a·Melissa B RamockiSarika U Peters
Dec 15, 2010·Annals of Neurology·Jeffrey L NeulUNKNOWN RettSearch Consortium
Jan 18, 2011·Experimental Biology and Medicine·Gaston CalfaLucas Pozzo-Miller
Apr 5, 2011·Trends in Neurosciences·Humberto Gutierrez, Alun M Davies
Jun 4, 2011·Science·Christopher M McGrawHuda Y Zoghbi
Mar 3, 2012·American Journal of Medical Genetics. Part a·Roksana ArmaniJohn Christodoulou
Jan 29, 2013·Molecular Autism·Dag H YasuiIzumi Maezawa
Aug 21, 2013·Neurobiology of Disease·Ying-Tao ZhaoZhaolan Zhou
Mar 13, 2014·Neuromolecular Medicine·Vichithra R B Liyanage, Mojgan Rastegar
Sep 19, 2014·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Ken SuginoSacha B Nelson
Dec 9, 2014·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Torsten Klengel, Elisabeth B Binder
Mar 13, 2015·Nature·Harrison W GabelMichael E Greenberg
Apr 15, 2015·Proceedings of the National Academy of Sciences of the United States of America·Lin ChenHuda Y Zoghbi
May 17, 2015·Cerebral Cortex·Francesco BedogniNicoletta Landsberger
Jul 26, 2015·Neuromolecular Medicine·Chloé DelépineThierry Bienvenu

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