Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

Human Molecular Genetics

Volumn 10, Issue 24, 2001, Pages 2841-2849

  Andreassi, Catia ^a   Jarecki, Jill ^c   Zhou, Jianhua ^d   Coovert, Daniel D ^a   Monani, Umrao R ^b   Chen, Xiaocum ^c   Whitney, Mike ^c   Pollok, Brian ^c   Zhang, Minlei ^d   Androphy, Elliot ^d   Burghes, Arthur H M ^a,b  

^a OHIO STATE UNIVERSITY   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c Aurora Biosciences Corporation   (United States)

^d TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACLARUBICIN; MESSENGER RNA; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ALTERNATIVE RNA SPLICING; ANIMAL CELL; ARTICLE; CELL LINE; CONTROLLED STUDY; EXON; FIBROBLAST; GENE EXPRESSION; GENE LIBRARY; GENETIC SCREENING; HUMAN; HUMAN CELL; MOTONEURON; MOUSE; NONHUMAN; PRIORITY JOURNAL; RNA TRANSCRIPTION; SPINAL MUSCULAR ATROPHY;

ANIMALIA;

EID: 0035891862     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.24.2841     Document Type: Article

References (59)

1. The neurobiology of childhood spinal muscular atrophy
2. The genetic component in child mortality
3. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England
4. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
5. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
6. Identification and characterization of a spinal muscular atrophy-determining gene
7. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
8. When is a deletion not a deletion? When it is converted
9. Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
10. Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
11. Correlation between severity and SMN protein level in spinal muscular atrophy
12. The survival motor neuron protein in spinal muscular atrophy
13. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
14. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
15. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients
16. 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
17. Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients
18. A novel nuclear structure containing the survival of motor neurons protein
19. The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells
20. SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis
21. Cloning, characterization, and copy number of the murine survival motor neuron gene: Homolog of the spinal muscular atrophy-determining gene
22. cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn)
23. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
24. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins
25. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
26. Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: Implications for spinal muscular atrophy
27. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
28. Identification of survival motor neuron as a transcriptional activator-binding protein
29. The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain
30. A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems
31. A mouse model for spinal muscular atrophy
32. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
33. Animal models of spinal muscular atrophy
34. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: An animal model for spinal muscular atrophy type III
35. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: An animal model for spinal muscular atrophy type III
36. SV40-mediated immortalization of human fibroblasts
37. Human myosin V gene produces different transcripts in a cell type-specific manner
38. Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons
39. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA
40. SMN oligomerization defect correlates with spinal muscular atrophy severity
41. The survival motor neuron (SMN) protein: Effect of exon loss and mutation on protein localization
42. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
43. Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes
44. Oxidative stress involvement in chemically induced differentiation of K562 cells
45. Transcriptional and post-transcriptional regulation of erythroid gene expression in anthracycline-induced differentiation of human erythroleukemic cells
46. Mapping of DNA topoisomerase II poisons (etoposide, clerocidin) and catalytic inhibitors (aclarubicin, ICRF-187) to four distinct steps in the topoisomerase II catalytic cycle
47. DNA topoisomerase II β and neural development
48. SR-related proteins and the processing of messenger RNA precursors
49. Phase I trial of aclacinomycin A
50. Treatment of spinal muscular atrophy by sodium butyrate
51. Modification of alternative splicing pathways as a potential approach to chemotherapy
52. The regulation of splice-site selection, and its role in human disease
53. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
54. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
55. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
56. Up-regulation of ICH-1L protein by thromboxane A2 antagonists enhances cisplatin-induced apoptosis in non-small-cell lung-cancer cell lines
57. Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)
58. Quantitation of transcription and clonal selection of single living cells with β-lactamase as a reporter