Results 101 to 110 of about 28,100 (214)

Premature recruitment of oocyte pool and increased mTOR activity in Fmr1 knockout mice and reversal of phenotype with rapamycin. [PDF]

, 2018
While mutations in the fragile X mental retardation-1 (FMR1) gene are associated with varying reproductive outcomes in females, the effects of a complete lack of FMR1 expression are not known.
Ascano, M, Mok-Lin, E, Rosenwaks, Z, Serganov, A, Tuschl, T, Williams, Z   +5 more
core   +2 more sources

Fmr1 knockout disrupts multiple intrinsic properties via reduced HCN channel activity in mediodorsal thalamocortical neurons

Experimental Physiology, Volume 111, Issue 3, Page 1340-1364, 1 March 2026.
Abstract The neurodevelopmental disorder fragile X syndrome (FXS) results from hypermethylation of the FMR1 gene, which prevents production of the FMRP protein. FMRP modulates the expression and function of a variety of proteins, including voltage‐gated ion channels, such as hyperpolarization‐activated and cyclic nucleotide‐gated (HCN) channels, which ...
Gregory J. Ordemann, Polina Lyuboslavsky, Alena Kizimenko, Audrey C. Brumback   +3 more
wiley   +1 more source

Cerebral Protein Synthesis in a Knockin Mouse Model of the Fragile X Premutation

ASN Neuro, 2014
The (CGG)n-repeat in the 5′-untranslated region of the fragile X mental retardation gene ( FMR1 ) gene is polymorphic and may become unstable on transmission to the next generation.
Mei Qin, Tianjian Huang, Zhonghua Liu, Michael Kader, Thomas Burlin, Zengyan Xia, Zachary Zeidler, Renate K. Hukema, Carolyn B. Smith   +8 more
doaj   +1 more source

Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model

Neurobiology of Disease, 2006
It is still unclear why absence of the fragile X protein (FMRP) leads to mental retardation and specific behavioral problems. In neurons, the protein transports specific mRNAs towards the actively translating ribosomes near the synapses.To unravel the ...
Ilse Gantois, Jo Vandesompele, Frank Speleman, Edwin Reyniers, Rudi D'Hooge, Lies-Anne Severijnen, Rob Willemsen, Flora Tassone, R. Frank Kooy   +8 more
doaj   +1 more source

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. [PDF]

, 2020
BackgroundThe purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (
Abbeduto, Leonard, Banasik, Amy, Bullard, Lauren, Hagerman, Randi, Kim, Kyoungmi, McDuffie, Andrea, Nguyen, Vivian, Potter, Laura A, Potter, Sarah Nelson, Tassone, Flora, Thurman, Angela John   +10 more
core  

Fragile X mental retardation protein levels are decreased in major psychiatric disorders [PDF]

Schizophrenia Research, 2010
In individuals with fragile X syndrome (FXS), there is a silencing of the fragile X mental retardation (FMR1) gene, usually due to an expansion of a CGG repeat in the 5’ untranslated region (Oostra and Willemsen, 2009). The subsequent loss of the FMR1 gene product, fragile X mental retardation protein (FMRP), an RNA-binding protein that travels between
S Hossein, Fatemi, Rachel E, Kneeland, Stephanie B, Liesch, Timothy D, Folsom   +3 more
openaire   +2 more sources

Esketamine/Ketamine: Dual‐Action Mechanisms and Clinical Prospects beyond Anesthesia in Psychiatry, Immunology, and Oncology

Advanced Science, Volume 13, Issue 7, 3 February 2026.
Esketamine and ketamine are widely used for perioperative analgesia and anesthesia. Despite their established roles in analgesia, sedation, and anesthesia, as well as emerging antidepressant, anti‐tumor, and anti‐inflammatory effects, their clinical use is limited due to side effects and addiction potential.
Yinxin Wang, Jiangang Xu, Xinyu Zhou, Lu Che, Minghan Qiu, Yang Liu, Ming Gao, Zhen Yang   +7 more
wiley   +1 more source

Clinical, molecular, and pharmacological aspects of FMR1-related disorders

Neurología (English Edition), 2017
Background: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family.
A. Pugin, V. Faundes, L. Santa María, B. Curotto, S. Aliaga, I. Salas, P. Soto, P. Bravo, M.I. Peña, M.A. Alliende   +9 more
doaj   +1 more source

Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]

, 2018
We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe, Colamartino, Marco, Di Menna, Luisa, Fiori, Elena, Iacovelli, Luisa, Leuzzi, Vincenzo, Nardecchia, Francesca, Nicoletti, Ferdinando, Nistico, Robert, Orlando, Rosamaria, Pascucci, Tiziana, Piccinin, Sonia, Puglisi-Allegra, Stefano   +12 more
core   +2 more sources

Neurogenesis and the Epigenetic Landscape: Role of Histone Modifications and Chromatin Remodeling

Brain and Behavior, Volume 16, Issue 2, February 2026.
Histone methylation and acetylation modulate gene expression by inducing chromatin condensation or relaxation, which in turn regulates transcriptional activity and impacts neurogenesis. ABSTRACT Aims The purpose of this review is to examine how epigenetic regulation particularly chromatin modification and histone methylation controls gene expression ...
Degisew Yinur Mengistu, Biniam Moges Eskeziyaw   +1 more
wiley   +1 more source