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Journal article

Modeling spinal muscular atrophy in Drosophila.

Abstract:

Spinal Muscular Atrophy (SMA), a recessive hereditary neurodegenerative disease in humans, has been linked to mutations in the survival motor neuron (SMN) gene. SMA patients display early onset lethality coupled with motor neuron loss and skeletal muscle atrophy. We used Drosophila, which encodes a single SMN ortholog, survival motor neuron (Smn), to model SMA, since reduction of Smn function leads to defects that mimic the SMA pathology in humans. Here we show that a normal neuromuscular jun...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1371/journal.pone.0003209

Authors


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SMA foundation More from this funder
National Institutes of Health More from this funder
Publisher:
Public Library of Science Publisher's website
Journal:
PloS one Journal website
Volume:
3
Issue:
9
Pages:
e3209
Publication date:
2008-01-01
DOI:
EISSN:
1932-6203
Source identifiers:
268641
Language:
English
Keywords:
UUID:
uuid:378a46b9-8eb0-4b69-9758-e1c22e01590e
Local pid:
pubs:268641
Deposit date:
2012-12-19

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