Antisense-based therapy for the treatment of spinal muscular atrophy

Rigo, F., Hua, Y. M., Krainer, A. R., Bennett, C. F. (October 2012) Antisense-based therapy for the treatment of spinal muscular atrophy. Journal of Cell Biology, 199 (1). pp. 21-25. ISSN 0021-9525

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URL: http://www.ncbi.nlm.nih.gov/pubmed/23027901
DOI: 10.1083/jcb.201207087

Abstract

One of the greatest thrills a biomedical researcher may experience is seeing the product of many years of dedicated effort finally make its way to the patient. As a team, we have worked for the past eight years to discover a drug that could treat a devastating childhood neuromuscular disease, spinal muscular atrophy (SMA). Here, we describe the journey that has led to a promising drug based on the biology underlying the disease.

Item Type: Paper
Uncontrolled Keywords: exonic splicing enhancer survival-motor-neuron mouse model cardiac defects oligonucleotide smn2 disease mechanisms delivery therapeutics
Subjects: diseases & disorders > congenital hereditary genetic diseases
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
diseases & disorders
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > antisense
diseases & disorders > congenital hereditary genetic diseases > spinal muscular atrophy
CSHL Authors:
Communities: CSHL labs > Krainer lab
CSHL Cancer Center Program > Gene Regulation and Cell Proliferation
Depositing User: Matt Covey
Date: 1 October 2012
Date Deposited: 30 Jan 2013 14:39
Last Modified: 13 Oct 2015 16:15
PMCID: PMC3461520
Related URLs:
URI: http://repository.cshl.edu/id/eprint/27029

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