The molecular bases of spinal muscular atrophy

Current Opinion in Genetics and Development

Volumn 12, Issue 3, 2002, Pages 294-298

  Frugier, Tony ^a   Nicole, Sophie ^a   Cifuentes Diaz, Carmen ^a   Melki, Judith ^a  

^a UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN; PROTEIN BCL 2; PROTEIN P53; PROTEIN SMN1; RNA HELICASE; RNA POLYMERASE II; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; NERVE PROTEIN; RNA BINDING PROTEIN; SMN PROTEIN (SPINAL MUSCULAR ATROPHY);

AUTOSOMAL RECESSIVE INHERITANCE; CELL VIABILITY; EXON; HUMAN; MOTONEURON; MUTATION; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REVIEW; SPINAL MUSCULAR ATROPHY; ANIMAL; DISEASE MODEL; GENE CONVERSION; GENE DELETION; GENETICS; MOUSE; PHENOTYPE; PHYSIOLOGY;

ANIMALS; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DISEASE MODELS, ANIMAL; GENE CONVERSION; GENE DELETION; HUMANS; MICE; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PHENOTYPE; RNA-BINDING PROTEINS;

EID: 0036591665     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(02)00301-5     Document Type: Review

References (51)

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4. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
5. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
6. Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
7. An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for SMN as the primary SMA-determining gene
8. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
9. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
10. Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy
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14. 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
15. A novel nuclear structure containing the survival of motor neurons protein
16. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
17. Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems
18. Direct interaction of SMN with dp103, a putative RNA helicase: A role for SMN in transcription regulation?
19. Gemin5: A novel WD repeat protein component of the SMN complex that binds Sm proteins
20. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
21. Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin
22. The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1
23. Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein
24. SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets
25. Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli
26. Purification of native SMN complexes and identification of Gemin6 as a novel component
27. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
28. Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy
29. A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy
30. The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain
31. A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with SMN in nuclear gems
32. Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein
33. A functional interaction between the survival motor neuron complex and RNA polymerase II
34. The RNA-binding properties of SMN: Deletion analysis of the zebrafish orthologue defines domains conserved in evolution
35. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
36. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
37. Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila
38. The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability
39. Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein
40. A mouse model for spinal muscular atrophy
41. (-/-) mice and results in a mouse with spinal muscular atrophy
42. Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons
43. Constitutive muscular abnormalities in culture in spinal muscular atrophy
44. Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice
45. Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes
46. Treatment of spinal muscular atrophy by sodium butyrate
47. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
48. Muscle regeneration by bone marrow-derived myogenic progenitors
49. From marrow to brain: Expression of neuronal phenotypes in adult mice
50. Multi-organ, multi-lineage engraftment by a single bone marrow-derived stem cell
51. Neurofilament accumulation at the motor endplate and lack of axonal sprouting in spinal muscular atrophy mouse model