| First Author | Bernier G | Year | 1995 |
| Journal | Biochem Cell Biol | Volume | 73 |
| Issue | 9-10 | Pages | 605-9 |
| PubMed ID | 8714679 | Mgi Jnum | J:31305 |
| Mgi Id | MGI:78808 | Doi | 10.1139/o95-066 |
| Citation | Bernier G, et al. (1995) Dystonin transcripts are altered and their levels are reduced in the mouse neurological mutant dt24J. Biochem Cell Biol 73(9-10):605-9 |
| abstractText | Dystonia musculorum is a hereditary mouse neurodegenerative disorder that primarily affects the sensory arm of the nervous system. We have recently cloned and identified a candidate gene for this disorder and designated it dystonin. The sequence of dystonin predicts a rod-shaped cytoskeletal-associated protein with an actin- binding domain at the N-terminal end and a hemidesmosomal protein sequence (bpag1) at the C-terminal end. Here we show that abnormal dystonin transcripts are present in neural tissues of a spontaneous dystonia musculorum mutant, dt(24J). We further show that dystonin transcript levels are reduced 2- to 3-fold in dt(24J) mice. |
