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.
Fragile X Syndrome
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.
Kris Saha, PhD
Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed.