Researchers at the Waisman Center made a significant step in understanding the function of a specific protein, FMR1, whose absence causes fragile X syndrome, or FXS. Waisman investigators Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, with research associate Meng Li, published their paper “Identification of FMR1-regulated molecular networks in human neurodevelopment” in the March issue of the journal Genome Research.
Fragile X Syndrome
Xinyu Zhao, PhD – Slide of the Week
Fragile X syndrome results from a loss of the RNA-binding protein fragile X mental retardation protein (FMRP). How FMRP regulates neuronal development and function remains unclear. Here we show that FMRP-deficient immature neurons exhibit impaired dendritic maturation, altered expression of mitochondrial genes, fragmented mitochondria, impaired mitochondrial function, and increased oxidative stress.
Audra Sterling, PhD – Slide of the Week
This study investigated the production of demonstratives (e.g., this, that, these) and personal pronouns in school-age boys with idiopathic autism spectrum disorder (ASD) and school-age boys with fragile X syndrome (FXS) with a co-diagnosis of ASD (FXS+ASD).
Neuroimaging in FXS and ASD
The Waisman Center at the University of Wisconsin-Madison is recruiting boys with fragile X syndrome and autism spectrum disorder for a study on language and communication skills and Magnetic Resonance Imaging (MRI). Boys should be …
Cell component breakdown suggests possible treatment for multiple neural disorders
UW-Madison research published today (Feb. 11, 2019) reveals how one mutation causes fragile X, the most common inherited intellectual disability. “Fragile X syndrome has been studied as a model of intellectual disability because in theory it’s comparatively simple,” says senior author Xinyu Zhao, a professor of neuroscience in the Waisman Center at the University of Wisconsin–Madison.
Xinyu Zhao, PhD – Slide of the Week
Adult neural stem cells in mouse models of fragile X syndrome (FXS) have elevated histone acetylation, leading to reduced neurogenesis. Treatment with either Nutlin-3 or Curcumin rebalances histone acetylation and rescues cognitive functions
Xinyu Zhao receives 2018 National Fragile X Foundation (NFXF) Research Award
Xinyu Zhao, PhD, received the 2018 National Fragile X Foundation (NFXF) Research Award for outstanding contributions to the understanding of fragile X syndrome. Zhao is a professor of neuroscience and Waisman Center investigator at the University of Wisconsin-Madison.
Study points researchers toward new therapies for fragile X syndrome
By Adityarup “Rup” Chakravorty New insights into the molecular machinations behind fragile X syndrome, the most common inherited intellectual disability, may help researchers develop potential therapies. Fragile X is a genetic condition that affects one …
Marsha R. Mailick, PhD – Slide of the Week
The FMR1 premutation is of increasing interest to the fragile X syndrome (FXS) community, as questions about a primary premutation phenotype warrant research attention. One hundred FMR1 premutation carrier mothers (mean age = 58; 67 to 138 CGG repeats) of adults with fragile X syndrome were studied with respect to their physical and mental health, and motor and neurocognitive characteristics.
Seminar: Anis Contractor, PhD, “Correction of Synaptic and Network Alterations in Fragile X Mice”
Research in the Contractor laboratory is directed towards understanding the functional role of neurotransmitter receptors, particularly glutamate receptors, in mediating and modulating synaptic transmission and plasticity.