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Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy

Abstract:

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN2) gene. All patients have at least one copy of a paralog, SMN2, but a C-to-T transition in this gene results in exon 7 skipping in a majority of transcripts. Approved treatment for SMA involves promoting exon 7 inclusion in the SMN2 transcript or increasing the amount of full-length SMN by gene replacement with a viral vector. Increasing the pool of SMN2

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher:
Cell Press
Journal:
Molecular Therapy - Nucleic acids More from this journal
Volume:
23
Pages:
731-742
Publication date:
2021-01-04
Acceptance date:
2020-12-30
DOI:
EISSN:
2162-2531
Pmid:
33575118
Language:
English
Keywords:
Pubs id:
1161100
Local pid:
pubs:1161100
Deposit date:
2021-06-18

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