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
FMRP drives mRNP targets into translationally silenced complexes.
Kurosaki T et al.
Molecular Cell, 2025
Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex.
Xie S et al.
Journal of Chemical Information and Modeling, 2025
FMR1 KH0-KH1 domains coordinate m6A binding and phase separation in Fragile X syndrome.
Zhou X et al.
Experimental Cell Research, 2025
RNA sculpting by the primordial Helix-clasp-Helix-Strand-Loop (HcH-SL) motif enforces chemical recognition enabling diverse KH domain functions.
Tainer JA et al.
The Journal of Biological Chemistry, 2025
Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons.
Kaiser J et al.
Biological Psychiatry, 2025
A humanized NOVA1 splicing factor alters mouse vocal communications.
Tajima Y et al.
Nature Communications, 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
Recurrent Neurodevelopmentally Associated Variants of the Pre-mRNA Splicing Factor U2AF2 Alter RNA Binding Affinities and Interactions.
Maji D et al.
Biochemistry, 2024
A De Novo Splicing Mutation of STXBP1 in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy.
Wang Z et al.
International Journal of Molecular Sciences, 2024
The FXR1 network acts as a signaling scaffold for actomyosin remodeling.
Chen X et al.
Cell, 2024
Characterization of ribosome stalling and no-go mRNA decay stimulated by the fragile X protein, FMRP.
Scarpitti MR et al.
The Journal of Biological Chemistry, 2024
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
Complex interplay between FMRP and DHX9 during DNA replication stress.
Chakraborty A et al.
The Journal of Biological Chemistry, 2024
Phosphorylation alters FMRP granules and determines their transport or protein synthesis abilities.
Kharod SC et al.
Biorxiv : the Preprint Server for Biology, 2023
Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.
Dy ABC et al.
Journal of Autism and Developmental Disorders, 2023
Mouse models of fragile X-related disorders.
Willemsen R et al.
Disease Models & Mechanisms, 2023
Long non-coding RNA TILR constitutively represses TP53 and apoptosis in lung cancer.
Iwai M et al.
Oncogene, 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
Across Dimensions: Developing 2D and 3D Human iPSC-Based Models of Fragile X Syndrome.
Lee A et al.
Cells, 2022
FMRP promotes transcription-coupled homologous recombination via facilitating TET1-mediated m5C RNA modification demethylation.
Yang H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
FMRP Sustains Presynaptic Function via Control of Activity-Dependent Bulk Endocytosis.
Bonnycastle K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022
FXS causing missense mutations disrupt FMRP granule formation, dynamics, and function.
Starke EL et al.
Plos Genetics, 2022
Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.
Gall-Duncan T et al.
Genome Research, 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
RNA-binding proteins in neurological development and disease.
Prashad S et al.
Rna Biology, 2021
FMRP Interacts with RARα in Synaptic Retinoic Acid Signaling and Homeostatic Synaptic Plasticity.
Park E et al.
International Journal of Molecular Sciences, 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 molecular view of mechanical stress of brain cells, local translation, and neurodegenerative diseases.
Khlebodarova TM
Vavilovskii Zhurnal Genetiki I Selektsii, 2021
FUS contributes to mTOR-dependent inhibition of translation.
Sévigny M et al.
The Journal of Biological Chemistry, 2020
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
Replication Stress Induces Global Chromosome Breakage in the Fragile X Genome.
Chakraborty A et al.
Cell Reports, 2020
Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction.
Prieto M et al.
Molecular Psychiatry, 2020
The RNA-binding fragile-X mental retardation protein and its role beyond the brain.
Malecki C et al.
Biophysical Reviews, 2020
FMRP Control of Ribosome Translocation Promotes Chromatin Modifications and Alternative Splicing of Neuronal Genes Linked to Autism.
Shah S et al.
Cell Reports, 2020
A de novo mutation in FMR1 in a patient with intellectual disability.
Maddirevula S et al.
European Journal of Medical Genetics, 2020
The FMRP-MOV10 complex: a translational regulatory switch modulated by G-Quadruplexes.
Kenny PJ et al.
Nucleic Acids Research, 2020
The Fragile X Mental Retardation Protein Regulates Striatal Medium Spiny Neuron Synapse Density and Dendritic Spine Morphology.
Huebschman JL et al.
Frontiers in Molecular Neuroscience, 2020
FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory.
Sawicka K et al.
Elife, 2019
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
EGFP insertional mutagenesis reveals multiple FXR2P fibrillar states with differing ribosome association in neurons.
Stackpole EE et al.
Biology Open, 2019
A genome-wide scan statistic framework for whole-genome sequence data analysis.
He Z et al.
Nature Communications, 2019