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Journal article

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.

Abstract:

The hereditary ataxias are a complex group of neurological disorders characterized by the degeneration of the cerebellum and its associated connections. The molecular mechanisms that trigger the loss of Purkinje cells in this group of diseases remain incompletely understood. Here, we report a previously undescribed dominant mouse model of cerebellar ataxia, moonwalker (Mwk), that displays motor and coordination defects and loss of cerebellar Purkinje cells. Mwk mice harbor a gain-of-function ...

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Publication status:
Published

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Publisher copy:
10.1073/pnas.0810599106

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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
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Journal:
Proceedings of the National Academy of Sciences of the United States of America
Volume:
106
Issue:
16
Pages:
6706-6711
Publication date:
2009-04-05
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
URN:
uuid:4924722d-19a2-4cc4-9b6a-7f766287ad2d
Source identifiers:
106297
Local pid:
pubs:106297

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