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
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.
Parra A et al.
Clinical Genetics, 2025
Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations.
Hasan H et al.
International Journal of Molecular Sciences, 2025
FMR1 KH0-KH1 domains coordinate m6A binding and phase separation in Fragile X syndrome.
Zhou X et al.
Experimental Cell Research, 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
Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.
Dy ABC et al.
Journal of Autism and Developmental Disorders, 2023
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
Folding Mechanism and Aggregation Propensity of the KH0 Domain of FMRP and Its R138Q Pathological Variant.
Santorelli D et al.
International Journal of Molecular Sciences, 2022
Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits in the visual system: a case report.
Perche O et al.
Journal of Medical Case Reports, 2022
Reversal of behavioural phenotype by the cannabinoid-like compound VSN16R in fragile X syndrome mice.
Hurley MJ et al.
Brain : a Journal of Neurology, 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
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
Channelopathies in fragile X syndrome.
Deng PY et al.
Nature Reviews. Neuroscience, 2021
Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice.
Prieto M et al.
Nature Communications, 2021
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
Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon.
Yang WJ et al.
Bmc Genetics, 2020
Differential regulation of BK channels by fragile X mental retardation protein.
Kshatri A et al.
The Journal of General Physiology, 2020
Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.
Schepici G et al.
Brain Sciences, 2019
Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation.
Khayachi A et al.
Nature Communications, 2018
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
Presynaptic BK channels control transmitter release: physiological relevance and potential therapeutic implications.
Griguoli M et al.
The Journal of Physiology, 2016
In Silico Analysis of FMR1 Gene Missense SNPs.
Tekcan A
Cell Biochemistry and Biophysics, 2016
Fragile X Syndrome: Scientific Background and Screening Technologies.
Lyons JI et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Altered Neuronal and Circuit Excitability in Fragile X Syndrome.
Contractor A et al.
Neuron, 2015
Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.
Laissue P
Molecular and Cellular Endocrinology, 2015
Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain.
Myrick LK et al.
Human Molecular Genetics, 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
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response.
Alpatov R et al.
Cell, 2014
[From intellectual disability to new treatment modalities of fragile X syndrome].
Jønch AE et al.
Ugeskrift for Laeger, 2014
The unstable repeats--three evolving faces of neurological disease.
Nelson DL et al.
Neuron, 2013
New perspectives on the biology of fragile X syndrome.
Wang T et al.
Current Opinion in Genetics & Development, 2012
Molecular mechanisms of fragile X syndrome: a twenty-year perspective.
Santoro MR et al.
Annual Review of Pathology, 2012
A nonsense mutation in FMR1 causing fragile X syndrome.
Grønskov K et al.
European Journal of Human Genetics : Ejhg, 2011
Genes involved in human premature ovarian failure.
Persani L et al.
Journal of Molecular Endocrinology, 2010
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.
Collins SC et al.
American Journal of Medical Genetics. Part A, 2010
[Fragile X syndrome. Diagnosis, genetics and clinical findings].
Hjalgrim H et al.
Ugeskrift for Laeger, 1998
Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.
Handt M et al.
Molecular and Cellular Probes, 0
Ubiquitin and Ubiquitin-Like Proteins in the Critical Equilibrium between Synapse Physiology and Intellectual Disability.
Folci A et al.
Eneuro, 0