| Autor: |
Helmut Fuchs, Rainer Klocke, Martin Hrabé de Angelis, Holger Hummerich, Christiana Ruhrberg, Gabriele Stumm, Sharon E. Nicholson, Martina Rudelius, Florian Boehme, Martin Augustin, Andreas Popp, P. Jeffrey Morgan, Azlina Ahmad-Annuar, Andreas Russ, Juergen Schlegel, Giampietro Schiavo, Takashi Toda, Elizabeth M. C. Fisher, Andreas Marquardt, Ayumu Yamamoto, Yasushi Hiraoka, John V. Priestley, Simon T. Ball, Giovanna Lalli, Sigrid Wattler, Samantha Bowen, Sharon Averill, Ravi Oozageer, Abi S. Witherden, Stefan Lampel, Joanne E. Martin, V.R. King, David T. Shima, Gisela Peraus, Majid Hafezparast, Dirk Korthaus, Philipp Wabnitz, Jo Peters, Carmen Dickneite |
| Rok vydání: |
2003 |
| Předmět: |
|
| Zdroj: |
Science. 300:808-812 |
| ISSN: |
1095-9203
0036-8075 |
| DOI: |
10.1126/science.1083129 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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