about
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicingGemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gemsGemin4. A novel component of the SMN complex that is found in both gems and nucleoliPurification of native survival of motor neurons complexes and identification of Gemin6 as a novel componentIdentification and characterization of Gemin7, a novel component of the survival of motor neuron complexGemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assemblyGemin8 is required for the architecture and function of the survival motor neuron complexDifferent forms of U15 snoRNA are encoded in the introns of the ribosomal protein S1 gene of Xenopus laevisA functional interaction between the survival motor neuron complex and RNA polymerase IIThe survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1Unrip is a component of SMN complexes active in snRNP assemblyEffects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophyPostsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.SMN is required for sensory-motor circuit function in Drosophila.Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophyRibonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPsSequence-specific interaction of U1 snRNA with the SMN complexThe SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathwayEssential role for the SMN complex in the specificity of snRNP assembly.A cell system for phenotypic screening of modifiers of SMN2 gene expression and function.SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.Disease mechanisms and therapeutic approaches in spinal muscular atrophy.Chaperoning ribonucleoprotein biogenesis in health and disease.snRNAs contain specific SMN-binding domains that are essential for snRNP assemblyThe DcpS inhibitor RG3039 improves motor function in SMA mice.SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs.SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease.Advances in modeling and treating spinal muscular atrophyAn SMN-dependent U12 splicing event essential for motor circuit functionA Stem Cell Model of the Motor Circuit Uncouples Motor Neuron Death from Hyperexcitability Induced by SMN Deficiency.The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy.Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic developmentAXenopus laevisHomologue of the La Autoantigen Binds the Pyrimidine Tract of the 5′ UTR of Ribosomal Protein mRNAsin Vitro: Implication of a Protein Factor in Complex FormationDysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy.Cellular nucleic acid binding protein binds a conserved region of the 5' UTR of Xenopus laevis ribosomal protein mRNAsThe survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organismsInvolvement of the Xenopus laevis Ro60 autoantigen in the alternative interaction of La and CNBP proteins with the 5'UTR of L4 ribosomal protein mRNAA systems view of spliceosomal assembly and branchpoints with iCLIP
P50
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P50
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Livio Pellizzoni
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Livio Pellizzoni
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P106
P1153
6603883368
P31
P496
0000-0002-9168-5628