The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice
Open accessAbstract
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 mutation (T635A) in the Trpc3 gene encoding the nonselective transient receptor potential cation channel, type C3 (TRPC3), resulting in altered TRPC3 channel gating. TRPC3 is highly expressed in Purkinje cells during the phase of dendritogenesis. Interestingly, growth and differentiation of Purkinje cell dendritic arbors are profoundly impaired in Mwk mice. Our findings define a previously unknown role for TRPC3 in both dendritic development and survival of Purkinje cells, and provide a unique mechanism underlying cerebellar ataxia.
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Lim, J., Hao, T., Shaw, C., Patel, A. J., Szabó, G., Rual, J.-F., Fisk, C. J., Li, N., Smolyar, A., Hill, D. E., et al. (2006) · Cell · doi:10.1016/j.cell.2006.03.032 · Cited by 789
Aiba, A. (1994) · Cell · doi:10.1016/0092-8674(94)90204-6 · Cited by 614
Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
Lin, X., Antalffy, B., Kang, D., Orr, H. T., & Zoghbi, H. Y. (2000) · Nature Neuroscience · doi:10.1038/72101 · Cited by 374
Characterization of the c-Jun N-Terminal Kinase-BimELSignaling Pathway in Neuronal Apoptosis
Becker, E. B. E., Howell, J., Kodama, Y., Barker, P. A., & Bonni, A. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.2953-04.2004 · Cited by 116
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Cited by
Consensus Paper: Cerebellar Development
Leto, K., Arancillo, M., Becker, E. B. E., Buffo, A., Chiang, C., Ding, B., Dobyns, W. B., Dusart, I., Haldipur, P., Hatten, M. E., et al. (2016) · The Cerebellum · doi:10.1007/s12311-015-0724-2 · Cited by 484
Self-citationTransient receptor potential (TRP) channels: a clinical perspective
Kaneko, Y., & Szallasi, A. (2014) · British Journal of Pharmacology · doi:10.1111/bph.12414 · Cited by 370
APOE expression and secretion are modulated by mitochondrial dysfunction
Wynne, M. E., Ogunbona, O., Lane, A. R., Gokhale, A., Zlatic, S. A., Xu, C., Wen, Z., Duong, D. M., Rayaprolu, S., Ivanova, A., et al. (2023) · eLife · doi:10.7554/elife.85779 · Cited by 35
Metadata
- Authors
- Becker, E. B. E., Oliver, P. L., Glitsch, M. D., Banks, G. T., Achilli, F., Hardy, A., Nolan, P. M., Fisher, E. M. C., & Davies, K. E.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2009-04-21
- Volume
- 106
- Issue
- 16
- Pages
- 6706-6711
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2087329385
- Cited by
- 225
- References
- 4
- FWCI
- 7.12
- Type
- journal article
- Language
- en
- Open access
- green
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- Becker, E. B. E., Oliver, P. L., Glitsch, M. D., Banks, G. T., Achilli, F., Hardy, A., Nolan, P. M., Fisher, E. M. C., & Davies, K. E. (2009). A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0810599106
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