Results 41 to 50 of about 8,347 (127)

Combining affinity purification and mass spectrometry to define the network of the nuclear proteins interacting with the N-terminal region of FMRP

Frontiers in Molecular Biosciences, 2022
Fragile X-Syndrome (FXS) represents the most common inherited form of intellectual disability and the leading monogenic cause of Autism Spectrum Disorders.
Félicie Kieffer, Fahd Hilal, Anne-Sophie Gay, Delphine Debayle, Marie Pronot, Gwénola Poupon, Iliona Lacagne, Barbara Bardoni, Stéphane Martin, Carole Gwizdek   +9 more
doaj   +1 more source

The elusive folding mechanism of KH1 domain of Fragile X messenger ribonucleoprotein 1

Archives of Biochemistry and Biophysics
: K-homology (KH) domains are widespread RNA-binding modules characterized by a conserved fold despite low sequence identity. Among these, the KH domains of the Fragile X messenger ribonucleoprotein 1 (FMRP) play a key role in regulating mRNA translation in neurons, and their dysfunction, caused by missense mutations, is associated with Fragile X ...
Troilo, Francesca, Catalano, Flavia, Comparini, Eleonora, Pistoia, Gianluca, Giardina, Giorgio, Di Matteo, Adele, Toto, Angelo, Travaglini-Allocatelli, Carlo   +7 more
openaire   +1 more source

Targeting m6A Modifications Regulating Ferroptosis Offers Novel Therapy in Diseases

Cell Proliferation, EarlyView.
m6A RNA modification regulates ferroptosis by balancing iron metabolism, lipid peroxidation, and antioxidant defenses. Dysregulated m6A signaling disrupts pro‐ and anti‐ferroptotic factors, leading to excess ROS, Fe3+ accumulation, and lipid peroxidation–driven cell death. Targeting m6A‐mediated ferroptotic regulation represents a promising therapeutic
Lida Du, Joshua S. Fleishman, Shuang Wu, Yuan Zhou, Clara X. Wang, Haitong Wang, Yumin Wang, Hongquan Wang   +7 more
wiley   +1 more source

FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability

Scientific Reports, 2022
Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder emerging in early life characterized by impairments in social interaction, poor verbal and non-verbal communication, and repetitive patterns of behaviors.
Annunziata D’Elia, Sara Schiavi, Antonia Manduca, Alessandro Rava, Valeria Buzzelli, Fabrizio Ascone, Tiziana Orsini, Sabrina Putti, Andrea Soluri, Filippo Galli, Alessandro Soluri, Maurizio Mattei, Rosella Cicconi, Roberto Massari, Viviana Trezza   +14 more
doaj   +1 more source

Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome‐linked mutations

The FEBS Journal, EarlyView.
Fragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Flavia Catalano, Alessandra Bigi, Francesca Troilo, Federica Gabriele, Gianluca Pistoia, Italia A. Asteriti, Francesco Angelucci, Giorgio Giardina, Fabrizio Chiti, Carlo Travaglini‐Allocatelli, Adele Di Matteo   +10 more
wiley   +1 more source

Social cognition in children and adolescents with fragile X syndrome: A comparison with individuals with autism symptoms and typical development

Journal of Neuropsychology, EarlyView.
Abstract Most individuals with fragile X syndrome (FXS) exhibit symptoms of autism spectrum disorder (ASD), suggesting a substantial overlap in social cognitive profiles. This cross‐sectional study aimed to explore social cognitive abilities in children and adolescents with FXS in comparison with an age‐matched heterogeneous ASD group and typically ...
Kamil R. Hiralal, Nienke Bouw, Britt R. Kok, Kyra Lubbers, Bram Dierckx, Kirstin Greaves‐Lord, Manon H. J. Hillegers, Gwendolyn C. Dieleman, Sabine E. Mous   +8 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 6, Page 406-419, September 2026.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment

Journal of Neurodevelopmental Disorders, 2023
Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cognitive function and in the pathogenesis of fragile X syndrome (FXS).
Joseph M. Palumbo, Brian F. Thomas, Dejan Budimirovic, Steven Siegel, Flora Tassone, Randi Hagerman, Christopher Faulk, Stephen O’Quinn, Terri Sebree   +8 more
doaj   +1 more source

The mutated cytoplasmic fragile X messenger ribonucleoprotein 1 (FMR1)‐interacting protein 2 (CYFIP2 S968F) regulates cocaine‐induced reward behaviour and plasticity in the nucleus accumbens

British Journal of Pharmacology
Background and PurposeCytoplasmic fragile X messenger ribonucleoprotein 1 (FMR1)‐interacting protein 2 (CYFIP2), as a component of the Wiskott–Aldrich syndrome protein family verprolin‐homologous protein (WAVE) regulatory complex, is involved in actin polymerization, contributing to neuronal development and structural plasticity. Mutating serine‐968 to
Young‐Jung Kim, Kyungin Kim, Youyoung Lee, Hee‐Won Min, Yong‐Hyun Ko, Bo‐Ram Lee, Kwang‐Hyun Hur, Seon‐Kyung Kim, Seok‐Yong Lee, Choon‐Gon Jang   +9 more
openaire   +2 more sources

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report

Case Reports in Genetics
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due
Hasan Hasan, Ellery R. Santos, Seyedeh Ala Mokhtabad Amrei, Flora Tassone, Jamie Leah Randol, Paul Hagerman, Randi J. Hagerman   +6 more
doaj   +1 more source