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Journal article

Splice-switching therapy for spinal muscular atrophy.

Abstract:

Spinal muscular atrophy (SMA) is a genetic disorder with severity ranging from premature death in infants to restricted motor function in adult life. Despite the genetic cause of this disease being known for over twenty years, only recently has a therapy been approved to treat the most severe form of this disease. Here we discuss the genetic basis of SMA and the subsequent studies that led to the utilization of splice switching oligonucleotides to enhance production of SMN protein, which is a...

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

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Publisher copy:
10.3390/genes8060161

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Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
More by this author
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
More by this author
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
Muscular Dystrophy UK More from this funder
Pfizer Rare Disease Consortium More from this funder
Publisher:
MDPI Publisher's website
Journal:
Genes Journal website
Volume:
8
Issue:
6
Pages:
161-161
Publication date:
2017-06-05
Acceptance date:
2017-06-02
DOI:
EISSN:
2073-4425
ISSN:
2073-4425
Pubs id:
pubs:700586
URN:
uri:b02b5642-704b-4a6a-ac72-e4cd38eb2911
UUID:
uuid:b02b5642-704b-4a6a-ac72-e4cd38eb2911
Local pid:
pubs:700586

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