Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
???displayArticle.abstract???
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by motor neuron loss and skeletal muscle atrophy. The loss of function of the smn1 gene, the main supplier of survival motor neuron protein (SMN) protein in human, leads to reduced levels of SMN and eventually to SMA. Here, we ask if the amphibian Xenopus tropicalis can be a good model system to study SMA. Inhibition of the production of SMN using antisense morpholinos leads to caudal muscular atrophy in tadpoles. Of note, early developmental patterning of muscles and motor neurons is unaffected in this system as well as acetylcholine receptors clustering. Muscular atrophy seems to rather result from aberrant pathfinding and growth arrest and/or shortening of motor axons. This event occurs in the absence of neuronal cell bodies apoptosis, a process comparable to that of amyotrophic lateral sclerosis. Xenopus tropicalis is revealed as a complementary animal model for the study of SMA.
Battaglia,
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system.
1997, Pubmed
Battaglia,
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system.
1997,
Pubmed
Briese,
Is spinal muscular atrophy the result of defects in motor neuron processes?
2005,
Pubmed
Bronchain,
The olig family: phylogenetic analysis and early gene expression in Xenopus tropicalis.
2007,
Pubmed
,
Xenbase
Burnett,
Regulation of SMN protein stability.
2009,
Pubmed
Bühler,
Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy.
1999,
Pubmed
,
Xenbase
Carrel,
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.
2006,
Pubmed
Chen,
The role of microRNA-1 and microRNA-133 in skeletal muscle proliferation and differentiation.
2006,
Pubmed
,
Xenbase
Cifuentes-Diaz,
Spinal muscular atrophy.
2002,
Pubmed
Crawford,
The neurobiology of childhood spinal muscular atrophy.
1996,
Pubmed
Eggert,
Spinal muscular atrophy: the RNP connection.
2006,
Pubmed
Feldkötter,
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
2002,
Pubmed
Fierro,
Exploring nervous system transcriptomes during embryogenesis and metamorphosis in Xenopus tropicalis using EST analysis.
2007,
Pubmed
,
Xenbase
Fischer,
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.
1997,
Pubmed
,
Xenbase
Frugier,
The molecular bases of spinal muscular atrophy.
2002,
Pubmed
Hahnen,
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.
1996,
Pubmed
Hannus,
The Schizosaccharomyces pombe protein Yab8p and a novel factor, Yip1p, share structural and functional similarity with the spinal muscular atrophy-associated proteins SMN and SIP1.
2000,
Pubmed
Hopwood,
MyoD expression in the forming somites is an early response to mesoderm induction in Xenopus embryos.
1989,
Pubmed
,
Xenbase
Hsieh-Li,
A mouse model for spinal muscular atrophy.
2000,
Pubmed
Jablonka,
Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death.
2002,
Pubmed
Kariya,
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy.
2008,
Pubmed
Kong,
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice.
2009,
Pubmed
La Bella,
Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated.
1998,
Pubmed
Layden,
Zfh1, a somatic motor neuron transcription factor, regulates axon exit from the CNS.
2006,
Pubmed
Lefebvre,
Correlation between severity and SMN protein level in spinal muscular atrophy.
1997,
Pubmed
Lefebvre,
Identification and characterization of a spinal muscular atrophy-determining gene.
1995,
Pubmed
Liu,
A novel nuclear structure containing the survival of motor neurons protein.
1996,
Pubmed
,
Xenbase
Liu,
The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.
1997,
Pubmed
Lorson,
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
1999,
Pubmed
MacDonald,
Functional motor neurons differentiating from mouse multipotent spinal cord precursor cells in culture and after transplantation into transected sciatic nerve.
2003,
Pubmed
McAndrew,
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
1997,
Pubmed
McGovern,
Embryonic motor axon development in the severe SMA mouse.
2008,
Pubmed
McWhorter,
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.
2003,
Pubmed
Meister,
A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs.
2001,
Pubmed
,
Xenbase
Meister,
Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs.
2002,
Pubmed
,
Xenbase
Melki,
Spinal muscular atrophy.
1997,
Pubmed
Miguel-Aliaga,
The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability.
1999,
Pubmed
Miguel-Aliaga,
Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila.
2000,
Pubmed
Monani,
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
2000,
Pubmed
Murray,
A single site on the epsilon subunit is responsible for the change in ACh receptor channel conductance during skeletal muscle development.
1995,
Pubmed
,
Xenbase
Murray,
Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy.
2008,
Pubmed
Paushkin,
The SMN complex, an assemblyosome of ribonucleoproteins.
2002,
Pubmed
Pellizzoni,
Essential role for the SMN complex in the specificity of snRNP assembly.
2002,
Pubmed
Phelps,
Embryonic development of four different subsets of cholinergic neurons in rat cervical spinal cord.
1990,
Pubmed
Schiaffino,
Molecular diversity of myofibrillar proteins: gene regulation and functional significance.
1996,
Pubmed
Schrank,
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.
1997,
Pubmed
Winkler,
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy.
2005,
Pubmed
,
Xenbase
Yang,
Notch1 signaling influences v2 interneuron and motor neuron development in the spinal cord.
2006,
Pubmed
