The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport
Open accessAbstract
Degenerative disorders of motor neurons include a range of progressive fatal diseases such as amyotrophic lateral sclerosis (ALS), spinal-bulbar muscular atrophy (SBMA), and spinal muscular atrophy (SMA). Although the causative genetic alterations are known for some cases, the molecular basis of many SMA and SBMA-like syndromes and most ALS cases is unknown. Here we show that missense point mutations in the cytoplasmic dynein heavy chain result in progressive motor neuron degeneration in heterozygous mice, and in homozygotes this is accompanied by the formation of Lewy-like inclusion bodies, thus resembling key features of human pathology. These mutations exclusively perturb neuron-specific functions of dynein.
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Rogers, D. C., Peters, J., Martin, J. E., Ball, S., Nicholson, S. J., Witherden, A. S., Hafezparast, M., Latcham, J., Robinson, T. L., Quilter, C. A., et al. (2001) · Neuroscience Letters · doi:10.1016/s0304-3940(01)01885-7 · Cited by 199
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The roles of intracellular protein-degradation pathways in neurodegeneration
Rubinsztein, D. C. (2006) · Nature · doi:10.1038/nature05291 · Cited by 1,625
UNRAVELING THE MECHANISMS INVOLVED IN MOTOR NEURON DEGENERATION IN ALS
Bruijn, L. I., Miller, T. M., & Cleveland, D. W. (2004) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.27.070203.144244 · Cited by 1,185
Gauthier, L. R., Charrin, B. C., Borrell-Pagès, M., Dompierre, J. P., Rangone, H., Cordelières, F. P., De Mey, J., MacDonald, M. E., Leßmann, V., Humbert, S., et al. (2004) · Cell · doi:10.1016/j.cell.2004.06.018 · Cited by 1,178
Hirokawa, N., Niwa, S., & Tanaka, Y. (2010) · Neuron · doi:10.1016/j.neuron.2010.09.039 · Cited by 1,138
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
Pasinelli, P., & Brown, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1971 · Cited by 1,107
Metadata
- Authors
- Hafezparast, M., Klocke, R., Ruhrberg, C., Marquardt, A., Ahmad-Annuar, A., Bowen, S., Lalli, G., Witherden, A. S., Hummerich, H., Nicholson, S., Morgan, P. J., Oozageer, R., Priestley, J. V., Averill, S., King, V. R., Ball, S., Peters, J., Toda, T., Yamamoto, A., Hiraoka, Y., Augustin, M., Korthaus, D., Wattler, S., Wabnitz, P., Dickneite, C., Lampel, S., Boehme, F., Peraus, G., Popp, A., Rudelius, M., Schlegel, J., Fuchs, H., de Angelis, M. H., Schiavo, G., Shima, D. T., Russ, A. P., Stumm, G., Martin, J. E., & Fisher, E. M. C.
- Venue
- Science
- Published
- 2003-05-02
- Volume
- 300
- Issue
- 5620
- Pages
- 808-812
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2110029962
- Cited by
- 684
- References
- 1
- FWCI
- 33.76
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- Hafezparast, M., Klocke, R., Ruhrberg, C., Marquardt, A., Ahmad-Annuar, A., Bowen, S., Lalli, G., Witherden, A. S., Hummerich, H., Nicholson, S., Morgan, P. J., Oozageer, R., Priestley, J. V., Averill, S., King, V. R., Ball, S., Peters, J., Toda, T., Yamamoto, A., . . . Fisher, E. M. C. (2003). Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport. Science. https://doi.org/10.1126/science.1083129
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
