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Journal article

Therapeutic strategies for spinal muscular atrophy: SMN and beyond

Abstract:

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactivating mutations in the encoding gene SMN1. A second duplicated gene, SMN2, produces very little but sufficient functional protein for survival. Therapeutic strategies to increase SMN are in clinical trials, and the first SMN2-directed antisense oli...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1242/dmm.030148

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Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
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Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
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The SMA Trust More from this funder
Publisher:
Company of Biologists Publisher's website
Journal:
Disease Models & Mechanisms Journal website
Volume:
10
Issue:
8
Pages:
943-954
Publication date:
2017-08-02
Acceptance date:
2017-06-05
DOI:
EISSN:
1754-8411
ISSN:
1754-8403
Pubs id:
pubs:729911
URN:
uri:70af5ddc-a9b2-4a17-96c7-c6a7bb1572a8
UUID:
uuid:70af5ddc-a9b2-4a17-96c7-c6a7bb1572a8
Local pid:
pubs:729911

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