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Journal article

Protein expression changes in spinal muscular atrophy revealed with a novel antibody array technology.

Abstract:

Autosomal recessive proximal spinal muscular atrophy (SMA) is a severe neurodegenerative disease of childhood causing weakness and wasting secondary to motor neuron dysfunction. Over 97% of cases are caused by deletions or mutations within the survival motor neuron (SMN) gene. The SMN protein is highly expressed within brain, spinal cord and muscle, and is decreased in SMA patients. It has been shown to have an important role in RNA metabolism, but the reason for the specific motor neuron los...

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Publication status:
Published

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Publisher copy:
10.1093/brain/awg208

Authors


Anderson, K More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Journal:
Brain : a journal of neurology
Volume:
126
Issue:
Pt 9
Pages:
2052-2064
Publication date:
2003-09-05
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
URN:
uuid:e08916f5-fa60-45d8-b4c9-fe123ea81ea6
Source identifiers:
106142
Local pid:
pubs:106142

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