- 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 ...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1073/pnas.0810599106
-
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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:
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0027-8424
- URN:
-
uuid:4924722d-19a2-4cc4-9b6a-7f766287ad2d
- Source identifiers:
-
106297
- Local pid:
- pubs:106297
- Copyright date:
- 2009
Journal article
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.
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