Results 51 to 60 of about 8,347 (127)

Overexpression of the autism candidate gene Cyfip1 pathologically enhances olivo-cerebellar signaling in mice

Frontiers in Cellular Neuroscience, 2023
Cyfip1, the gene encoding cytoplasmic FMR1 interacting protein 1, has been of interest as an autism candidate gene for years. A potential role in autism spectrum disorder (ASD) is suggested by its location on human chromosome 15q11-13, an instable region
Silas E. Busch, Dana H. Simmons, Eric Gama, Xiaofei Du, Francesco Longo, Francesco Longo, Christopher M. Gomez, Eric Klann, Christian Hansel   +8 more
doaj   +1 more source

Aberrant Neural Entrainment to Word‐Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit

Autism Research, Volume 19, Issue 8, August 2026.
ABSTRACT Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism spectrum disorder, causes significant language and cognitive impairments. Statistical learning refers to the ability to extract patterns from sensory input through mere exposure and plays a central role in language acquisition.
Laura J. Batterink, Yanchen Liu, Grace Westerkamp, Jae Citarella, Peyton Siekierski, Lynxie Voorhees, Lauren E. Ethridge, Elizabeth Smith, Rana Elmaghraby, Craig A. Erickson, Zag ElSayed, Anubhuti Goel, Steve W. Wu, Ernest V. Pedapati   +13 more
wiley   +1 more source

Chloride imbalance in Fragile X syndrome

Frontiers in Neuroscience, 2022
Developmental changes in ionic balance are associated with crucial hallmarks in neural circuit formation, including changes in excitation and inhibition, neurogenesis, and synaptogenesis.
Kaleb Dee Miles, Caleb Andrew Doll
doaj   +1 more source

Hippocampal Astrocytes Impact Postnatal Development of Inhibitory Connections, Parvalbumin Levels, Social, and Spatial Navigation Behaviors in a Mouse Model of Fragile X Syndrome

Journal of Neurochemistry, Volume 170, Issue 8, August 2026.
Astrocyte‐specific postnatal deletion of Fmr1 affects GABAergic gene expression and phasic inhibition of CA1 neurons in the hippocampus. While GABA transport in astrocytes does not alter tonic inhibition of CA1 pyramidal cells, it affects PV levels and is implicated in impaired spatial memories and social behaviors in astrocyte‐specific Fmr1 cKO mice ...
Victoria A. Wagner, Sarah Maples, Ritika Thapa, Jordan Wimberly, Ellie Pettijohn, Alexandra Varallo, Maham Rais, Samantha Sutley‐Koury, Peter Hickmott, Iryna M. Ethell   +9 more
wiley   +1 more source

FMRP‐Mediated Proteasome Regulation: A Novel Mechanism in ALS Pathology

The FASEB Journal, Volume 40, Issue 13, 15 July 2026.
Schematic model of TDP‐43/TNKS‐mediated proteasome regulation in WT, FMRP‐depleted, and TDP‐43A315T‐Tg ALS neurons. In WT neurons, cytoplasmic TDP‐43 partially sequesters TNKS, maintaining balanced PI31 ribosylation and proteasome activity. FMRP depletion promotes nuclear translocation of TDP‐43, enhances TNKS/PI31 interaction, and increases axonal ...
Pritha Majumder, Asmar Ahsan, Pitchapa Bubphachat, Khadiza Akter, Jeffrey K. Huang, Chi‐Chen Sarah Huang   +5 more
wiley   +1 more source

CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons

Cell Reports
Summary: The human genome has many short tandem repeats, yet the normal functions of these repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene contains polymorphic CGG repeats, the length of ...
Carissa L. Sirois, Yu Guo, Meng Li, Natalie E. Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M.M. Sousa, Anita Bhattacharyya, Xinyu Zhao   +11 more
doaj   +1 more source

Unraveling the Individualized Shared and Distinct Dynamic Functional Connectivity in Idiopathic Autism Spectrum Disorder and Fragile X Syndrome

CNS Neuroscience &Therapeutics, Volume 32, Issue 7, July 2026.
Enhancing the prediction accuracy of clinical symptoms in ASD and FXS through analysis of Shared and Distinct Individualized Dynamic Functional Connectivity Patterns. (A) Dynamic functional connectivity (dFC) pattern identification. (B) Modeling based on dFC patterns and demographic features.
Boli Pan, Junbo Wang, Danyong Feng, Yiting Zhu, Ning Tang, Dongyun Li, Qiong Xu, Rihui Li   +7 more
wiley   +1 more source

Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype

Neurobiology of Disease
The FMR 1 premutation is associated with a complex clinical phenotype, with increased risk for outcomes across the domains of psychological disorders, motor functioning, and reproductive health. A key gap is understanding intermediate processing that may help to explain how the FMR 1 premutation alters brain functioning to confer increased risk across ...
Harold, Roslyn, Kamat, Roma, Neo, Wei Siong, Novak, Keisha, Nossa, Gianna, Monsivais, Humberto, Durham, Phillip, Zhou, Xiaopeng, Dydak, Ulrike, Berry-Kravis, Elizabeth, Foti, Dan, Kelleher, Bridgette L.   +11 more
openaire   +1 more source

Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

MedComm, Volume 7, Issue 7, July 2026.
Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang, Yiqiong Song, Ziyang Wang, Ke Chao, Lifeng Li, Xu Zhang, Xiaoran Duan, Chenglong Yu, Ruyue Xue, Jie Zhao   +9 more
wiley   +1 more source

A Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice

Scientific Data
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. FXS patients exhibit autistic behaviors and abnormal brain structures, with notable sex differences.
Sara Ebrahimiazar, Takako Kikkawa, Yohei Minakuchi, Satoshi Miyashita, Shyu Manabe, Mikio Hoshino, Atsushi Toyoda, Noriko Osumi   +7 more
doaj   +1 more source