Associated Papers
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.
D'Incal CP et al.
European Journal of Human Genetics : Ejhg, 2025
Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.
Hasan H et al.
Case Reports in Genetics, 2025
Age-dependent impairment of dopamine D1 receptor signalling in mouse striatum by FMR1 variant P626L.
Fu J et al.
Brain Communications, 2025
Conformational and dynamic properties of the KH1 domain of FMRP and its fragile X syndrome linked G266E variant.
Catalano F et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2024
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.
Yang S et al.
Archives of Pharmacal Research, 2023
Function of FMRP Domains in Regulating Distinct Roles of Neuronal Protein Synthesis.
D'Souza MN et al.
Molecular Neurobiology, 2022
A noncanonical RNA-binding domain of the fragile X protein, FMRP, elicits translational repression independent of mRNA G-quadruplexes.
Scarpitti MR et al.
The Journal of Biological Chemistry, 2022
FXS causing missense mutations disrupt FMRP granule formation, dynamics, and function.
Starke EL et al.
Plos Genetics, 2022
Dysregulation of BMP, Wnt, and Insulin Signaling in Fragile X Syndrome.
Song C et al.
Frontiers in Cell and Developmental Biology, 2022
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Tekendo-Ngongang C et al.
Genes, 2021
Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice.
Prieto M et al.
Nature Communications, 2021
The Human Fragile X Mental Retardation Protein Inhibits the Elongation Step of Translation through Its RGG and C-Terminal Domains.
Athar YM et al.
Biochemistry, 2020
Fragile X-related protein family: a double-edged sword in neurodevelopmental disorders and cancer.
Majumder M et al.
Critical Reviews in Biochemistry and Molecular Biology, 2020
Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction.
Prieto M et al.
Molecular Psychiatry, 2020
Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.
Schepici G et al.
Brain Sciences, 2019
Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats.
Golden CEM et al.
Cerebral Cortex (new York, N.y. : 1991), 2019
Rare FMR1 gene mutations causing fragile X syndrome: A review.
Sitzmann AF et al.
American Journal of Medical Genetics. Part A, 2018
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
Quartier A et al.
European Journal of Human Genetics : Ejhg, 2017
Fragile X syndrome and fragile X-associated disorders.
Rajaratnam A et al.
F1000research, 2017
In Silico Analysis of FMR1 Gene Missense SNPs.
Tekcan A
Cell Biochemistry and Biophysics, 2016
Fragile X mental retardation protein: A paradigm for translational control by RNA-binding proteins.
Chen E et al.
Biochimie, 2015
Mutational analyses of the FMR1 gene in Chinese pediatric population of fragile x suspects: low tolerance for point mutation.
Luo S et al.
Journal of Child Neurology, 2015
Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures.
Myrick LK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP.
Suhl JA et al.
Journal of Experimental Neuroscience, 2015
Fragile X syndrome due to a missense mutation.
Myrick LK et al.
European Journal of Human Genetics : Ejhg, 2014