An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: Potential therapy of SMA

Gene Therapy

Volumn 8, Issue 20, 2001, Pages 1532-1538

  Zhang, M L ^a   Lorson, C L ^b   Androphy, E J ^a   Zhou, J ^a  

^a TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ARIZONA STATE UNIVERSITY   (United States)

Author keywords

Gene therapy; High throughput screening (HTS); Small molecules; Spinal muscular atrophy (SMA); Splicing; Survival motor neuron (SMN)

Indexed keywords

CHEMICAL COMPOUND; ENZYME INHIBITOR; GREEN FLUORESCENT PROTEIN; LUCIFERASE; MESSENGER RNA; NUCLEOTIDE; PHOSPHATASE; PHOSPHOTRANSFERASE INHIBITOR; VANADATE SODIUM;

ARTICLE; CELL INCLUSION; CELL LINE; CENTROMERE; DEGENERATIVE DISEASE; EXON; GENE CONSTRUCT; GENE FUSION; GENE THERAPY; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IN VIVO STUDY; MEASUREMENT; MODULATION; MOTONEURON; MOTOR NEURON DISEASE; PRIORITY JOURNAL; PROTEIN PROCESSING; REPORTER GENE; SPINAL MUSCULAR ATROPHY; TELOMERE;

ARTIFICIAL GENE FUSION; CELL LINE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; ENZYME INHIBITORS; EXONS; GENE EXPRESSION; GENE THERAPY; GREEN FLUORESCENT PROTEINS; HUMANS; LUCIFERASES; LUMINESCENT PROTEINS; MOTOR NEURONS; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PHOSPHORIC MONOESTER HYDROLASES; PHOSPHORYLATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA-BINDING PROTEINS; TRANSFECTION; VANADATES;

EID: 0035158371     PISSN: 09697128     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gt.3301550     Document Type: Article

References (26)

1. Identification and characterization of a spinal muscular atrophy-determining gene
2. Structure and organization of the human survival motor neurone (SMN) gene
3. When is a deletion not a deletion? When it is converted
4. Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron
5. Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
6. Spinal muscular atrophy
7. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
8. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
9. 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
10. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
11. A mouse model for spinal muscular atrophy
12. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: An animal model for spinal muscular atrophy type III
13. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
14. The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements
15. Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)
16. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
17. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients
18. H. Differential SMN2 expression associated with SMA severity
19. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
20. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
21. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
22. Terminal exon definition occurs cotranscriptionally and promotes termination of RNA polymerase II
23. Bipotent progenitor cell lines from the human CNS
24. Neuroblastoma × spinal cord (NSC) hybrid cell lines resemble developing motor neurons
25. The MKK(3/6)-p38-signaling cascade alters the subcellular distribution of hnRNP A1 and modulates alternative splicing regulation
26. SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis