Molecular mechanisms in spinal muscular atrophy: Models and perspectives

Current Opinion in Neurology

Volumn 14, Issue 5, 2001, Pages 629-634

  Sendtner, Michael ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

RIBONUCLEOPROTEIN; RNA POLYMERASE II; SMALL NUCLEAR RNA;

ANIMAL MODEL; AUTOSOMAL RECESSIVE DISORDER; CELLULAR DISTRIBUTION; CENTROMERE; CHROMOSOME 5Q; DELETION MUTANT; MOTONEURON; PATHOPHYSIOLOGY; REVIEW; RNA PROCESSING; RNA TRANSCRIPTION; SPINAL MUSCULAR ATROPHY; SPLICEOSOME; TELOMERE;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MUSCULAR ATROPHY, SPINAL;

EID: 0034788276     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200110000-00012     Document Type: Review

References (51)

1. Spinal muscular atrophy: Molecular pathophysiology
2. The role of the SMN gene in proximal spinal muscular atrophy
3. Identification and characterization of a spinal muscular atrophy- determining gene
4. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
5. The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5
6. The neuronal apoptosis inhibitory protein suppresses neuronal differentiation and apoptosis in PC12 cells
7. Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein
8. The survival motor neuron protein of Schizosacharomyces pombe. Conservation of survival motor neuron interaction domains in divergent organisms
9. 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
10. The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability
11. Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila
12. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
13. A mouse model for spinal muscular atrophy
14. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
15. SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens
16. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
17. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
18. SMN oligomerization defect correlates with spinal muscular atrophy severity
19. Analysis of mutations in the tudor domain of the survival motor neuron protein SMN
20. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
21. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
22. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
23. Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins
24. Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy
25. A cell system with targeted disruption of the SMN gene: Functional conservation of the SMN protein and dependence of Gemin2 on SMN
26. Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems
27. Direct interaction of Smn with dp 103, a putative RNA helicase: A role for Smn in transcription regulation?
28. Characterization of DP103, a novel DEAD box protein that binds to the Epstein-Barr virus nuclear proteins EBNA2 and EBNA3C
29. SMN tudor domain structure and its interaction with the Sm proteins
30. The C-terminal RG dipeptide repeats of the spliceosomal Sm proteins D1 and D3 contain symmetrical dimethylarginines, which form a major B-cell epitope for anti-Sm autoantibodies
31. Smn, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets
32. Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli
33. A functional interaction between the survival motor neuron complex and RNA polymerase II
34. A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems
35. Correlation between severity and SMN protein level in spinal muscular atrophy
36. Reduced survival motor neuron (Smn) gene close in mice leads to motor neuron degeneration: An animal model for spinal muscular atrophy type III
37. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
38. From enigmatic to problematic: The new molecular genetics of childhood spinal muscular atrophy
39. Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy
40. Survival motor neuron protein modulates neuron-specific apoptosis
41. Inactivation of the bcl-2 gene results in progressive degeneration of motoneurons, sensory and sypathetic neurons during early postnatal development
42. Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease
43. Does the survival motor neuron protein (SMN) interact with Bcl-2?
44. Death of motoneurons induced by trophic deprivation or by excitotoxicity is not prevented by overexpression of SMN
45. Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord
46. Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
47. The human centromeric survival motor neuron gene (SMN 2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
48. Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes
49. Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy
50. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
51. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)