Faculty members Carmine Settembre, Ph.D. Autophagy is an essential, homeostatic process by which cells break down their own components by targeting them to the lysosome. Autophagy is critical in a range of normal human physiological processes since it is deputed to constitutive turnover of cytosolic components such as organelles and pro...MORE
Research Breakthroughs TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nat Cell Biol. April 2013Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function. Hum Mol Genet. March 2013 An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related DisordersCell, February 2013Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes & Development, February 2013 Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans. PLoS Biology, 2012Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. 2012 Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome Mutant Mice. December 2011 CREB-activity and nmnat2 transcription are down-regulated prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy. 2011 Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua. Science, November 2011Inhibition of the mammalian target of rapamycin blocks epilepsy progression in NS-Pten conditional knockout mice. Epilepsia, November 2011 ATXN1 Protein Family and CIC Regulate Extracellular Matrix Remodeling and Lung Alveolarization. Developmental Cell, October 2011 prev 1 / 2 next
About NRI The Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital (NRI) opened in December 2010. Dedicated to improving the lives of patients facing devastating neurological disorders, the NRI is a basic research institute committed to understanding the pathogenesis of neurological diseases with the ultimate goal of developing treatments. Collaboration and leadership in genetics and neuroscience have allowed faculty at Baylor College of Medicine and Texas Children's Hospital to discover the underlying causes of dozens of neurological disorders. More
NRI News Dr. Christian Schaaf wins 2013 William K. Bowes, Jr. Award in Medical Genetics NRI investigator Jeffrey L. Neul, M.D., Ph.D., elected into the American Society for Clinical Investigation (ASCI). NRI investigator Christian Schaaf, M.D., Ph.D., elected Vice Chair of Education of the American College of Medical Genetics (ACMG). Solving the Mystery of Autism Mutation location is key to prognosis More
NRI Events Symposium on Neuronal Development, Function and Demise: A Genetic Perspective April 1-2, 2013 More