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A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.

Abstract:

Distal hereditary motor neuronopathies (dHMNs) are a clinically and genetically heterogeneous group of disorders in which motor neurons selectively undergo age-dependant degeneration. Mutations in the small heat-shock protein HSPB1 (HSP27) are responsible for one form of dHMN. In this study, we have analysed the effect of expressing a form of mutant HSPB1 in primary neuronal cells in culture. Mutant (P182L) but not wild-type HSPB1 led to the formation of insoluble intracellular aggregates and...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddi452

Authors


Ackerley, S More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
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Journal:
Human molecular genetics
Volume:
15
Issue:
2
Pages:
347-354
Publication date:
2006-01-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:9c92bbb4-7df6-47ba-a451-abb1fee78dac
Source identifiers:
106328
Local pid:
pubs:106328

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