Results 91 to 100 of about 19,643 (207)

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley   +1 more source

MicroRNA-129 modulates neuronal migration by targeting Fmr1 in the developing mouse cortex

Cell Death and Disease, 2019
During cortical development, neuronal migration is one of the most important steps for normal cortical formation and function, and defects in this process cause many brain diseases. However, the molecular mechanisms underlying this process remain largely
Chao Wu, Xiaoling Zhang, Pan Chen, Xiangbin Ruan, Wei Liu, Yanchao Li, Changjie Sun, Lin Hou, B. Yin, B. Qiang, P. Shu, Xiaozhong Peng   +11 more
semanticscholar   +1 more source

Resilience to audiogenic seizures is associated with p-ERK1/2 dephosphorylation in the subiculum of Fmr1 knockout mice

Frontiers in Cellular Neuroscience, 2013
Young, but not adult, Fmr1 knockout (KO) mice display audiogenic seizures (AGS) that can be prevented by inhibiting extracellular signal-regulated kinases 1/2 (ERK1/2) phosphorylation. In order to identify the cerebral regions involved in these phenomena,
Giulia eCuria, Fabio eGualtieri, Fabio eGualtieri, Regina eBartolomeo, Riccardo eVezzali, Giuseppe eBiagini   +5 more
doaj   +1 more source

Mouse models of fragile X-related disorders

Disease Models & Mechanisms, 2023
Rob Willemsen, R. Frank Kooy
doaj   +1 more source

Reduced perineuronal net expression in Fmr1 KO mice auditory cortex and amygdala is linked to impaired fear -associated memory.

Neurobiology of Learning and Memory, 2019
Fragile X syndrome (FXS) is a leading cause of heritable intellectual disability and autism. Humans with FXS show anxiety, sensory hypersensitivity and impaired learning.
Sarah M. Reinhard, Maham Rais, Sonia Afroz, Yasmien Hanania, Kasim Pendi, Katherine Espinoza, R. Rosenthal, D. Binder, I. Ethell, K. Razak   +9 more
semanticscholar   +1 more source

Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency

Reproductive and Developmental Medicine, 2017
Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1 (FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency (POI) using a rapid and cost-effective method.
Qing Chen, Qi-Qi Wang, Bao-Zhu Cai, Xiao-Jun Ren, Feng Zhang, Xiao-Jin Zhang   +5 more
doaj   +1 more source

GABA-B Agonist Baclofen Normalizes Auditory-Evoked Neural Oscillations and Behavioral Deficits in the Fmr1 Knockout Mouse Model of Fragile X Syndrome

eNeuro, 2017
Fragile X syndrome is a genetic condition resulting from FMR1 gene mutation that leads to intellectual disability, autism-like symptoms, and sensory hypersensitivity.
D. Sinclair, R. Featherstone, M. Naschek, J. Nam, A. Du, Suzie Wright, K. Pance, O. Melnychenko, Rachel Weger, Shinobu Akuzawa, Mitsuyuki Matsumoto, Steven J. Siegel   +11 more
semanticscholar   +1 more source

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

PLoS ONE, 2010
BackgroundFragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus.
Stephen C Collins, Brad Coffee, Paul J Benke, Elizabeth Berry-Kravis, Fred Gilbert, Ben Oostra, Dicky Halley, Michael E Zwick, David J Cutler, Stephen T Warren   +9 more
doaj   +1 more source

Genetic reduction of MMP-9 in the Fmr1 KO mouse partially rescues prepulse inhibition of acoustic startle response.

Brain Research, 2019
Sensory processing abnormalities are consistently associated with autism, but the underlying mechanisms and treatment options are unclear. Fragile X Syndrome (FXS) is the leading known genetic cause of intellectual disabilities and autism.
Jamiela Kokash, E. Alderson, Sarah M. Reinhard, C. Crawford, D. Binder, I. Ethell, K. Razak   +6 more
semanticscholar   +1 more source

Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing

Stem Cell Research, 2019
Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play ...
Subhajit Giri, Meera Purushottam, Biju Viswanath, Ravi S. Muddashetty   +3 more
doaj   +1 more source