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Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late

Abstract:

Spinal muscular atrophy (SMA) is caused by low survival motor neuron (SMN) levels and patients represent a clinical spectrum due primarily to varying copies of the survival motor neuron-2 (SMN2) gene. Patient and animals studies show that disease severity is abrogated as SMN levels increase. Since therapies currently being pursued target the induction of SMN, it will be important to understand the dosage, timing and cellular requirements of SMN for disease etiology and potential therapeutic i...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1371/journal.pone.0015887

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Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author
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Contributors

Role:
Editor
Publisher:
Public Library of Science Publisher's website
Journal:
PLoS ONE Journal website
Volume:
5
Issue:
12
Pages:
ARTN e15887
Publication date:
2010-12-29
Acceptance date:
2010-11-27
DOI:
EISSN:
1932-6203
Source identifiers:
471253
Keywords:
UUID:
uuid:6d9ccbb0-8202-4aa8-ba72-0e0a0c70875e
Local pid:
pubs:471253
Deposit date:
2014-07-02

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