Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron

scientific article published in December 1997

Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/S0378-1119(97)00510-6
P698PubMed publication ID9434164

P50authorMichael K LeeQ30505385
P2093author name stringKim G
Price DL
Sisodia SS
Bergin A
Rabin BA
P2860cites workThe gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophyQ24308680
A novel nuclear structure containing the survival of motor neurons proteinQ24324247
Genomic sequencingQ24594942
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3Q28280414
Identification and characterization of a spinal muscular atrophy-determining geneQ29547495
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann diseaseQ33677204
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.Q34302504
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?Q34425819
Gene deletions in spinal muscular atrophyQ42668853
Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining geneQ48051944
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).Q48053808
Oxidative enzymes in spinal motor neurons in Werdnig-Hoffmann disease. A comparison with the axonal reaction.Q51236851
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5qQ59059683
Genetic homogeneity between acute and chronic forms of spinal muscular atrophyQ59092681
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14Q59274006
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)Q67481178
SMN gene deletions in adult-onset spinal muscular atrophyQ70874351
De novo and inherited deletions of the 5q13 region in spinal muscular atrophiesQ72679218
P433issue1-2
P407language of work or nameEnglishQ1860
P921main subjectspinal muscular atrophyQ580290
P304page(s)47-53
P577publication date1997-12-01
P1433published inGeneQ5531065
P1476titleIdentification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron
P478volume204

Reverse relations

cites work (P2860)
Q38316939A mouse model for spinal muscular atrophy
Q28204816An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA
Q37468607Bone loss in survival motor neuron (Smn(-/-) SMN2) genetic mouse model of spinal muscular atrophy
Q36924719Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling
Q63185827Early defect in the expression of mouse sperm DnaJ 1, a member of the DNAJ/heat shock protein 40 chaperone protein family, in the spinal cord of the wobbler mouse, a murine model of motoneuronal degeneration
Q34509807Genetically engineered models relevant to neurodegenerative disorders: their value for understanding disease mechanisms and designing/testing experimental therapeutics
Q28471859Genome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targets
Q35028621High-resolution genetic and physical map of the Lgn1 interval in C57BL/6J implicates Naip2 or Naip5 in Legionella pneumophila pathogenesis
Q33536382Human DNA repair systems: an overview
Q36733712Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4.
Q36914618Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies
Q33292398Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation
Q33345749Spinal muscular atrophy.
Q24604444The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy
Q77892135The genetic and molecular mechanisms of motor neuron disease
Q41440571Therapeutic strategies for spinal muscular atrophy: SMN and beyond.