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Journal article

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy.

Abstract:

Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein. SMN is a critical mediator of spliceosomal protein assembly, and complete loss or drastic reduction in protein leads to loss of cell viability. However, the reason for selective motor neuron degeneration when SMN is reduced to levels which are tolerated by all other cell types is not currently understood. Widespread splicin...

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Publication status:
Published

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Publisher copy:
10.1371/journal.pgen.1000773

Authors


Bäumer, D More by this author
Nicholson, G More by this author
Davies, JL More by this author
Parkinson, NJ More by this author
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Journal:
PLoS genetics
Volume:
5
Issue:
12
Pages:
e1000773
Publication date:
2009-12-05
DOI:
EISSN:
1553-7404
ISSN:
1553-7390
URN:
uuid:93b5ddb8-a953-4c37-a585-df81a2bad940
Source identifiers:
104751
Local pid:
pubs:104751

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