Associated Papers
Arginine methylation-dependent METTL14-SMN interaction regulates RNA m6A homeostasis.
Zhang Y et al.
Embo Reports, 2025
Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS.
Xing X et al.
The Analyst, 2024
Dissecting the role of SMN multimerization in its dissociation from the Cajal body using harmine as a tool compound.
Ohazama S et al.
Journal of Cell Science, 2024
Arginine methylation-enabled FUS phase separation with SMN contributes to neuronal granule formation.
Wang L et al.
Cell Reports, 2024
Effect of E134K pathogenic mutation of SMN protein on SMN-SmD1 interaction, with implication in spinal muscular atrophy: A molecular dynamics study.
Polverini E et al.
International Journal of Biological Macromolecules, 2024
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III.
Lu M et al.
Cns Neuroscience & Therapeutics, 2024
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.
Bai J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments.
Musawi S et al.
Nature Communications, 2023
Functional Implications of Protein Arginine Methyltransferases (PRMTs) in Neurodegenerative Diseases.
Angelopoulou E et al.
Biology, 2023
The TUDOR domain of SMN is an H3K79me1 histone mark reader.
Binda O et al.
Life Science Alliance, 2023
SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members.
Binda O et al.
Life Science Alliance, 2023
Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
Miller CR et al.
Human Mutation, 2023
SMN-deficient cells exhibit increased ribosomal DNA damage.
Karyka E et al.
Life Science Alliance, 2022
A novel CARM1-HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy.
Ravel-Chapuis A et al.
Human Molecular Genetics, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Niba ETE et al.
Genes, 2022
Sumoylation regulates the assembly and activity of the SMN complex.
Riboldi GM et al.
Nature Communications, 2021
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.
Butchbach MER
International Journal of Molecular Sciences, 2021
Conditional deletion of SMN in cell culture identifies functional SMN alleles.
Blatnik AJ et al.
Human Molecular Genetics, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
Sneha P et al.
Metabolic Brain Disease, 2018
HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation.
Hao le T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein.
Takarada T et al.
Brain & Development, 2017
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Li W
Plos One, 2017
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Qu YJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
SMN and coilin negatively regulate dyskerin association with telomerase RNA.
Poole AR et al.
Biology Open, 2016
The SMN Tudor SIM-like domain is key to SmD1 and coilin interactions and to Cajal body biogenesis.
Tapia O et al.
Journal of Cell Science, 2014
Phosphoregulation of the human SMN complex.
Husedzinovic A et al.
European Journal of Cell Biology, 2014
Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.
Liu WL et al.
Genetics and Molecular Research : Gmr, 2013
The Tudor protein survival motor neuron (SMN) is a chromatin-binding protein that interacts with methylated lysine 79 of histone H3.
Sabra M et al.
Journal of Cell Science, 2013
A novel function for the survival motoneuron protein as a translational regulator.
Sanchez G et al.
Human Molecular Genetics, 2013
Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.
Tsuiji H et al.
Embo Molecular Medicine, 2013
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
Yu-Jin Q et al.
Bmc Medical Genetics, 2012
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy.
Workman E et al.
Brain Research, 2012
Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron.
Locatelli D et al.
Journal of Neurochemistry, 2012
Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.
Tripsianes K et al.
Nature Structural & Molecular Biology, 2011
[Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
DU J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.
Fallini C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies.
Morse R et al.
Neuromolecular Medicine, 2011
Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain.
Fuentes JL et al.
Plos One, 2010
[Study of SMN gene in Chinese children with spinal muscular atrophy].
Liu WL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2010
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
Workman E et al.
Human Molecular Genetics, 2009
Intrinsic disorder in proteins associated with neurodegenerative diseases.
Uversky VN
Frontiers in Bioscience (landmark Edition), 2009
Regulation of SMN protein stability.
Burnett BG et al.
Molecular and Cellular Biology, 2009