Results 1 to 10 of about 19,643 (207)

Gene therapy using human FMRP isoforms driven by the human FMR1 promoter rescues fragile X syndrome mouse deficits

Molecular Therapy: Methods & Clinical Development, 2022
Fragile X syndrome (FXS) is caused by the loss of the fragile X messenger ribonucleoprotein 1 (FMRP) encoded by the FMR1 gene. Gene therapy using adeno-associated virus (AAV) to restore FMRP expression is a promising therapeutic strategy. However, so far
Yiru Jiang, Linkun Han, Jian Meng, Zijie Wang, Yunqiang Zhou, Huilong Yuan, Hui Xu, Xian Zhang, Yingjun Zhao, Jinsheng Lu, Huaxi Xu, Chen Zhang, Yun-wu Zhang   +12 more
doaj   +1 more source

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation

Stem Cell Reports, 2014
Silencing of the FMR1 gene leads to fragile X syndrome, the most common cause of inherited intellectual disability. To study the epigenetic modifications of the FMR1 gene during silencing in time, we used fibroblasts and induced pluripotent stem cells ...
Celine E.F. de Esch, Mehrnaz Ghazvini, Friedemann Loos, Nune Schelling-Kazaryan, W. Widagdo, Shashini T. Munshi, Erik van der Wal, Hannie Douben, Nilhan Gunhanlar, Steven A. Kushner, W.W.M. Pim Pijnappel, Femke M.S. de Vrij, Niels Geijsen, Joost Gribnau, Rob Willemsen   +14 more
doaj   +1 more source

Reduced mitochondrial fusion and Huntingtin levels contribute to impaired dendritic maturation and behavioral deficits in Fmr1 mutant mice

Nature Neuroscience, 2019
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.
Minjie Shen, Feifei Wang, M. Li, N. Sah, Michael E. Stockton, Joseph J. Tidei, Yu Gao, Tomer Korabelnikov, Sudharsan Kannan, Jason D. Vevea, E. Chapman, A. Bhattacharyya, H. van Praag, Xinyu Zhao   +13 more
semanticscholar   +1 more source

Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations

Translational Psychiatry, 2020
Fragile X syndrome (FXS) is caused by a full mutation of the FMR1 gene (>200 CGG repeats and subsequent methylation), such that there is little or no FMR1 protein (FMRP) produced, leading to intellectual disability (ID).
A. Schneider, T. Winarni, A. Cabal-Herrera, S. Bacalman, L. Gane, P. Hagerman, F. Tassone, R. Hagerman   +7 more
semanticscholar   +1 more source

A sound-driven cortical phase-locking change in the Fmr1 KO mouse requires Fmr1 deletion in a subpopulation of brainstem neurons

Neurobiology of Disease, 2022
Background: Sensory impairments commonly occur in patients with autism or intellectual disability. Fragile X syndrome (FXS) is one form of intellectual disability that is often comorbid with autism.
Andrew J. Holley, Aleya Shedd, Anna Boggs, Jonathan Lovelace, Craig Erickson, Christina Gross, Miranda Jankovic, Khaleel Razak, Kimberly Huber, Jay R. Gibson   +9 more
doaj   +1 more source

Deletion of Fmr1 from Forebrain Excitatory Neurons Triggers Abnormal Cellular, EEG, and Behavioral Phenotypes in the Auditory Cortex of a Mouse Model of Fragile X Syndrome.

Cerebral Cortex, 2019
Fragile X syndrome (FXS) is a leading genetic cause of autism with symptoms that include sensory processing deficits. In both humans with FXS and a mouse model [Fmr1 knockout (KO) mouse], electroencephalographic (EEG) recordings show enhanced resting ...
J. Lovelace, Maham Rais, Arnold R. Palacios, Xinghao S. Shuai, Steven Bishay, O. Popa, P. S. Pirbhoy, D. Binder, D. Nelson, I. Ethell, K. Razak   +10 more
semanticscholar   +1 more source

Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated FMR1 Alleles in Fragile X Syndrome Patient Derived Cells

Genes, 2020
In fragile X syndrome (FXS), expansion of a CGG repeat tract in the 5′-untranslated region of the FMR1 gene to >200 repeats causes transcriptional silencing by inducing heterochromatin formation. Understanding the mechanism of FMR1 silencing is important
D. Kumari, Nicholas Sciascia, K. Usdin
semanticscholar   +1 more source

Modeling Fragile X Syndrome: Characterizing Fmr1 Gene Knockout Mice across Genotype, Behavior, and Morphology

Neurological Sciences and Neurophysiology
Objective: Fragile X syndrome (FXS) is a hereditary condition resulting from dynamic mutations in the Fmr1 gene, leading to reduced or absent fragile X mental retardation protein (FMRP). Although molecular genetic diagnostics for FXS have advanced, there
Yonghua Liao, Junjie Liu, Jinyuan Zhang, Da Chen, Yifan Liu, Zhuolin Li, Hao Su, Jiaye Tang, Shengqiang Chen   +8 more
doaj   +1 more source

Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions

PLoS ONE, 2019
Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 repeats) in the 5′ untranslated region of the fragile X mental retardation 1 ...
Kyoungmi Kim, D. Hessl, J. Randol, G. Espinal, A. Schneider, D. Protic, E. Y. Aydin, R. Hagerman, P. Hagerman   +8 more
semanticscholar   +1 more source

Deficient Sleep in Mouse Models of Fragile X Syndrome

Frontiers in Molecular Neuroscience, 2017
In patients with fragile X syndrome (FXS), sleep problems are commonly observed but are not well characterized. In animal models of FXS (dfmr1 and Fmr1 knockout (KO)/Fxr2 heterozygote) circadian rhythmicity is affected, but sleep per se has not been ...
R. Michelle Saré, Lee Harkless, Merlin Levine, Anita Torossian, Carrie A. Sheeler, Carolyn B. Smith   +5 more
doaj   +1 more source