Associated Papers
Arginine methylation-dependent METTL14-SMN interaction regulates RNA m6A homeostasis.
Zhang Y et al.
Embo Reports, 2025
Arginine methylation-enabled FUS phase separation with SMN contributes to neuronal granule formation.
Wang L et al.
Cell Reports, 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
The TUDOR domain of SMN is an H3K79me1 histone mark reader.
Binda O et al.
Life Science Alliance, 2023
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Niba ETE et al.
Genes, 2022
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
Advances in therapeutic development for spinal muscular atrophy.
Howell MD et al.
Future Medicinal Chemistry, 2014
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
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
Nölle A et al.
Human Molecular Genetics, 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
Regulation of SMN protein stability.
Burnett BG et al.
Molecular and Cellular Biology, 2009
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.
Rossoll W et al.
Results and Problems in Cell Differentiation, 2009
Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies.
Lorson MA et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2008
SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.
Tran VK et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2008
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins.
Kotani T et al.
Journal of Neurology, 2007
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O et al.
Human Mutation, 2004
Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus.
Hua Y et al.
Cellular and Molecular Life Sciences : Cmls, 2004
Molecular genetic analyses of five Vietnamese patients with spinal muscular atrophy.
Khanh TV et al.
The Kobe Journal of Medical Sciences, 2002
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Wirth B
Human Mutation, 2000