Mechanism of Repeat-Associated MicroRNAs in Fragile X Syndrome by Karen Kelley, Shin-Ju E. Chang, Shi-Lung Lin

“…Many of these trinucleotide repeats are involved in triplet repeat expansion diseases (TREDs) such as fragile X syndrome (FXS). After transcription, the trinucleotide repeats can fold into RNA hairpins and are further processed by Dicer endoribonuclases to form microRNA (miRNA)-like molecules that are capable of triggering targeted gene-silencing effects in the TREDs. …”
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Impaired GABA Neural Circuits Are Critical for Fragile X Syndrome by Fei Gao, Lijun Qi, Zhongzhen Yang, Tao Yang, Yan Zhang, Hui Xu, Huan Zhao

“…Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by silence of the fmr1 gene and the deficiency of Fragile X mental retardation protein (FMRP). …”
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Involvement and Therapeutic Potential of the GABAergic System in the Fragile X Syndrome by Inge Heulens, Charlotte D'Hulst, Sien Braat, Liesbeth Rooms, R. Frank Kooy

“…The recent observation that the GABAA receptor is underexpressed in the fragile X syndrome, an inherited mental retardation disorder, therefore raised hopes for targeted therapy of the disorder. …”
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Synaptic Plasticity, a Prominent Contributor to the Anxiety in Fragile X Syndrome by Tao Yang, Huan Zhao, Changbo Lu, Xiaoyu Li, Yingli Xie, Hao Fu, Hui Xu

“…Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by expansion of the CGG trinucleotide repeat affecting the fmr1 gene on X chromosome, resulting in silence of the fmr1 gene and failed expression of FMRP. …”
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Altered olfactory responses in Fmr1 KO mice by Jan Tuma, Amtul-Noor Rana, Teena Philip, Jeong Ben Park, Hye Young Lee

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A transgenic cell line with inducible transcription for studying (CGG)n repeat expansion mechanisms by I. V. Grishchenko, A. A. Tulupov, Y. M. Rymareva, E. D. Petrovskiy, A. A. Savelov, A. M. Korostyshevskaya, Y. V. Maksimova, A. R. Shorina, E. M. Shitik, D. V. Yudkin

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Fmr1 KO Mice as a Possible Model of Autistic Features by Maude Bernardet, Wim E. Crusio

“…The Fmr1 KO mouse is a valid model of the Fragile X Syndrome and many data on behavioral and sensory-motor characteristics of this model have been gathered. …”
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Alterations of Amino Acids and Monoamine Metabolism in Male Fmr1 Knockout Mice: A Putative Animal Model of the Human Fragile X Mental Retardation Syndrome by Michael Gruss, Katharina Braun

“…The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) geneleading to the absence of the encoded fragile X mental retardation protein 1 (FMRP). …”
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Astrocytes and Developmental Plasticity in Fragile X by Connie Cheng, Mary Sourial, Laurie C. Doering

“…With overall synaptic function standing as a prominent link to the expression of the disease phenotype in a number of neurodevelopmental disorders and knowing that astrocytes influence synapse development and function, this paper highlights the current knowledge of astrocyte biology with a focus on their involvement in fragile X syndrome.…”
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Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders by I. De Toma, L. Manubens Gil, S. Ossowski, M. Dierssen

“…Two examples are Down Syndrome (DS) and Fragile X Syndrome (FXS), where global and local epigenetic alterations lead to impairments in synaptic plasticity, memory, and learning. …”
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Recent Advances in the Pathogenesis of Syndromic Autisms by A. Benvenuto, B. Manzi, R. Alessandrelli, C. Galasso, P. Curatolo

“…Alterations of the neocortical excitatory/inhibitory balance and perturbations of interneurons' development represent the most probable pathogenetic mechanisms underlying the autistic phenotype in Fragile X-Syndrome and Tuberous Sclerosis Complex. Chromosomal abnormalities and potential candidate genes are strongly implicated in the disruption of neural connections, brain growth, and synaptic/dendritic morphology. …”
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Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran by Nafiseh Todarbary, Abouzar Irandegani, Mojtaba Meshkat, Aida Gholoobi, Tayebeh Hamzehloei

“…Education level was associated with abortion agreement for various conditions, including cleft lip or palate, Alzheimer’s disease, Turner syndrome, cystic fibrosis, phenylketonuria, Huntington’s disease, autism, fragile X syndrome, and epilepsy. Additionally, the number of children was correlated with congenital blindness, Duchenne muscular dystrophy, autism, Proteus syndrome, Klinefelter syndrome, anencephaly, mental retardation (MR), quadriplegia, and severe learning disability and mental health (LDMH). …”
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Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases by Mohammadmersad Ghorbani, Simon J. E. Taylor, Mark A. Pook, Annette Payne

“…We have combined this data and used a pattern searching algorithm to identify motifs in the DNA surrounding aberrantly methylated CpGs found in the DNA of patients with one of the three trinucleotide repeat (TNR) expansion diseases: fragile X syndrome (FRAXA), myotonic dystrophy type I (DM1), or Friedreich’s ataxia (FRDA). …”
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Human Brain Organoid: A Versatile Tool for Modeling Neurodegeneration Diseases and for Drug Screening by Cuili Ma, Hwanwook Seong, Xiaowei Li, Xiao Yu, Shunliang Xu, Yujing Li

“…For example, the clinical trials for human fragile X syndrome (FXS) solely based on animal models have failed such as mGluR5 antagonists. …”
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