A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
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Spinal muscular atrophyThe survival motor neuron protein forms soluble glycine zipper oligomersThe contribution of mouse models to understanding the pathogenesis of spinal muscular atrophyA SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA miceHistone deacetylase inhibitors as potential treatment for spinal muscular atrophySmn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneuronsA novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophyPostsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPsThe effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice.Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Spinal muscular atrophy: new and emerging insights from model miceProteomic assessment of a cell model of spinal muscular atrophyAssays for the identification and prioritization of drug candidates for spinal muscular atrophyReduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) geneTherapeutic developments in spinal muscular atrophy.A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.Temporal requirement for high SMN expression in SMA miceA single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouseTherapeutic strategies for the treatment of spinal muscular atrophy.Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy.Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy.Axonal regeneration and neuronal function are preserved in motor neurons lacking ß-actin in vivo.Increased IGF-1 in muscle modulates the phenotype of severe SMA miceSelective vulnerability of spinal and cortical motor neuron subpopulations in delta7 SMA mice.Spinal muscular atrophy: journeying from bench to bedsideKnockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA.Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability.Failure of lower motor neuron radial outgrowth precedes retrograde degeneration in a feline model of spinal muscular atrophy.SMN deficiency disrupts gastrointestinal and enteric nervous system function in miceSystemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy.Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse modelsHow do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?Molecular mechanisms of spinal muscular atrophy.Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexesDetection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophy.The zebrafish sf3b1b460 mutant reveals differential requirements for the sf3b1 pre-mRNA processing gene during neural crest development.Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy
P2860
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P2860
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
description
2003 nî lūn-bûn
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2003年の論文
@ja
2003年学术文章
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2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
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name
A transgene carrying an A2G mi ...... pe I) spinal muscular atrophy.
@ast
A transgene carrying an A2G mi ...... pe I) spinal muscular atrophy.
@en
type
label
A transgene carrying an A2G mi ...... pe I) spinal muscular atrophy.
@ast
A transgene carrying an A2G mi ...... pe I) spinal muscular atrophy.
@en
prefLabel
A transgene carrying an A2G mi ...... pe I) spinal muscular atrophy.
@ast
A transgene carrying an A2G mi ...... pe I) spinal muscular atrophy.
@en
P2093
P2860
P50
P356
P1476
A transgene carrying an A2G mi ...... ype I) spinal muscular atrophy
@en
P2093
Catia Andreassi
Christian Lorson
Jennifer M DiCocco
Matthew T Pastore
Michael Podell
Sibylle Jablonka
Tatiana O Gavrilina
Thanh T Le
Umrao R Monani
P2860
P356
10.1083/JCB.200208079
P407
P577
2003-01-06T00:00:00Z