The Biochemistry of Survival Motor Neuron Protein Is Paving the Way to Novel Therapies for Spinal Muscle Atrophy
Author:
Affiliation:
1. Université de Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U 1217, Institut NeuroMyoGène (INMG), 69008 Lyon, France
Funder
AFM-T?l?thon
Publisher
American Chemical Society (ACS)
Subject
Biochemistry
Link
https://pubs.acs.org/doi/pdf/10.1021/acs.biochem.9b01124
Reference99 articles.
1. Identification and characterization of a spinal muscular atrophy-determining gene
2. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
3. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
4. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
5. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
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