Chaperoning ribonucleoprotein biogenesis in health and disease.
about
Development of a single vector system that enhances trans-splicing of SMN2 transcriptsAlternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophyThe splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophyIGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophyThe Cajal body and histone locus bodyA SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA miceDephosphorylation of survival motor neurons (SMN) by PPM1G/PP2Cgamma governs Cajal body localization and stability of the SMN complexCopy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesSpinal muscular atrophy: from gene discovery to clinical trialsSpinal muscular atrophy: development and implementation of potential treatmentsSpinal Muscular AtrophyIn vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation proteinThe SMN structure reveals its crucial role in snRNP assemblyA role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophySMN in spinal muscular atrophy and snRNP biogenesisSMN is required for sensory-motor circuit function in Drosophila.Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophyMolecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpainRibonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPsTrans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy.A novel functional role for MMSET in RNA processing based on the link between the REIIBP isoform and its interaction with the SMN complexSpinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Proteomic assessment of a cell model of spinal muscular atrophyInvertebrate models of spinal muscular atrophy: insights into mechanisms and potential therapeutics.SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminalsAssays for the identification and prioritization of drug candidates for spinal muscular atrophyTemporal requirement for high SMN expression in SMA miceA single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouseSMN-inducing compounds for the treatment of spinal muscular atrophy.Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy.SMN regulates axonal local translation via miR-183/mTOR pathwayIncreased IGF-1 in muscle modulates the phenotype of severe SMA miceTDRD3, a novel Tudor domain-containing protein, localizes to cytoplasmic stress granulesA cell system for phenotypic screening of modifiers of SMN2 gene expression and function.Identification of the phosphorylation sites in the survival motor neuron protein by protein kinase A.Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents.Disease mechanisms and therapeutic approaches in spinal muscular atrophy.IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy.
P2860
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P2860
Chaperoning ribonucleoprotein biogenesis in health and disease.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Chaperoning ribonucleoprotein biogenesis in health and disease.
@ast
Chaperoning ribonucleoprotein biogenesis in health and disease.
@en
type
label
Chaperoning ribonucleoprotein biogenesis in health and disease.
@ast
Chaperoning ribonucleoprotein biogenesis in health and disease.
@en
prefLabel
Chaperoning ribonucleoprotein biogenesis in health and disease.
@ast
Chaperoning ribonucleoprotein biogenesis in health and disease.
@en
P2860
P921
P356
P1433
P1476
Chaperoning ribonucleoprotein biogenesis in health and disease.
@en
P2860
P304
P356
10.1038/SJ.EMBOR.7400941
P577
2007-04-01T00:00:00Z