Results 11 to 20 of about 14,329 (173)

FMRP modulates the Wnt signalling pathway in glioblastoma [PDF]

Cell Death and Disease, 2022
Converging evidence indicates that the Fragile X Messenger Ribonucleoprotein (FMRP), which absent or mutated in Fragile X Syndrome (FXS), plays a role in many types of cancers.
Giorgia Pedini, Mariachiara Buccarelli, Fabrizio Bianchi, Laura Pacini, Giulia Cencelli, Quintino Giorgio D’Alessandris, Maurizio Martini, Stefano Giannetti, Franceschina Sasso, Valentina Melocchi, Maria Giulia Farace, Tilmann Achsel, Luigi M. Larocca, Lucia Ricci-Vitiani, Roberto Pallini, Claudia Bagni   +15 more
doaj   +3 more sources

The KIF6-RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly. [PDF]

Adv Sci (Weinh)
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Xie C, Yi S, Lin X, Zhang S, Wang W, Yuan S, Meng L, Li Y, Tan C, Wei C, Yu Y, Liang Y, Zhang H, Hu L, Lu G, He W, Zhang Q, Du J, Lin G, Tu C, Tan YQ.   +20 more
europepmc   +2 more sources

Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome-linked mutations. [PDF]

FEBS J
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
Catalano F, Bigi A, Troilo F, Gabriele F, Pistoia G, Asteriti IA, Angelucci F, Giardina G, Chiti F, Travaglini-Allocatelli C, Di Matteo A.   +10 more
europepmc   +2 more sources

EGFP-FMRP Granules Are Proto-Granules That Can Be Shunted to Stress Granules During a Stress Response [PDF]

, 2010
Overexpressed EGFP-FMRP has been used as a substitute for endogenous fragile X mental retardation protein (FMRP) in protein-protein interaction studies, and in studies concerning the composition, the formation and the localization of neuronal granules ...
Robert Denman
core   +1 more source

The Identification of Nuclear FMRP Isoform Iso6 Partners

Cells, 2023
A deficiency of FMRP, a canonical RNA-binding protein, causes the development of Fragile X Syndrome (FXS), which is characterised by multiple phenotypes, including neurodevelopmental disorders, intellectual disability, and autism.
Nassim Ledoux, Emeline I. J. Lelong, Alexandre Simard, Samer Hussein, Pauline Adjibade, Jean-Philippe Lambert, Rachid Mazroui   +6 more
doaj   +1 more source

Aberrant hyperexpression of the RNA binding protein FMRP in tumors mediates immune evasion. [PDF]

, 2022
Many human cancers manifest the capability to circumvent attack by the adaptive immune system. In this work, we identified a component of immune evasion that involves frequent up-regulation of fragile X mental retardation protein (FMRP) in solid tumors ...
Chryplewicz, Agnieszka, Zeng, Q., Zhang, Peng, Karamitopoulou, Eva, Ataca, Dalya, Guillot, J., Saghafinia, S., Tichet, M., Tichet, Mélanie, Yucel, Simge, Galván, José A, Gallean, Fleuriane, Chryplewicz, A., Galván, J.A., Fournier, Nadine, Yucel, S., Homicsko, Krisztian, Xie, Y.Q., Li, P., Zhang, P., Zlobec, Inti, Christe, Lucine, Xie, Yu-Qing, Fournier, N., Gallean, F., Zlobec, I., Ataca, D., Li, Pumin, Rodríguez-Calero, José Antonio, Rubin, Mark, Guillot, Jeremy, Zeng, Qiqun, Homicsko, K., Christe, L., Hanahan, D., Saghafinia, Sadegh, Karamitopoulou, E., Hanahan, Douglas, Rodriguez-Calero, J.A., Rubin, M., Chryplewicz, Agnieszka Alicja, Galvan, Jose A.   +41 more
core   +1 more source

MOV10 and FMRP Regulate AGO2 Association with MicroRNA Recognition Elements

Cell Reports, 2014
Summary: The fragile X mental retardation protein FMRP regulates translation of its bound mRNAs through incompletely defined mechanisms. FMRP has been linked to the microRNA pathway, and we show here that it associates with the RNA helicase MOV10, also ...
Phillip J. Kenny, Hongjun Zhou, Miri Kim, Geena Skariah, Radhika S. Khetani, Jenny Drnevich, Mary Luz Arcila, Kenneth S. Kosik, Stephanie Ceman   +8 more
doaj   +1 more source

Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype

The Application of Clinical Genetics, 2021
César Payán-Gómez,1 Julian Ramirez-Cheyne,2,3 Wilmar Saldarriaga2,3 1Deparment of Biology, Faculty of Natural Sciences, Universidad del Rosario, Bogotá, Colombia; 2Health Faculty, Universidad del Valle, Cali, Colombia; 3Hospital Universitario del Valle ...
Payán-Gómez C, Ramirez-Cheyne J, Saldarriaga W   +2 more
doaj  

Cellular stress-induced up-regulation of FMRP promotes cell survival by modulating PI3K-Akt phosphorylation cascades

Journal of Biomedical Science, 2011
Background Fragile X syndrome (FXS), the most commonly inherited mental retardation and single gene cause of autistic spectrum disorder, occurs when the Fmr1 gene is mutated.
Wells David, Choi Ji, Yang Sung-Il, Seo Jung, Jeon Se, Shin Chan, Ko Kwang   +6 more
doaj   +1 more source

Fragile X Mental Retardation Protein Regulates Activity-Dependent Membrane Trafficking and Trans-Synaptic Signaling Mediating Synaptic Remodeling

Frontiers in Molecular Neuroscience, 2018
Fragile X syndrome (FXS) is the leading monogenic cause of autism and intellectual disability. The disease arises through loss of fragile X mental retardation protein (FMRP), which normally exhibits peak expression levels in early-use critical periods ...
James C. Sears, Kendal Broadie, Kendal Broadie, Kendal Broadie   +3 more
doaj   +1 more source