| First Author | He L | Year | 2003 |
| Journal | Science | Volume | 299 |
| Issue | 5607 | Pages | 710-2 |
| PubMed ID | 12560552 | Mgi Jnum | J:81466 |
| Mgi Id | MGI:2449384 | Doi | 10.1126/science.1079694 |
| Citation | He L, et al. (2003) Spongiform degeneration in mahoganoid mutant mice. Science 299(5607):710-2 |
| abstractText | mahoganoid is a mouse coat-color mutation whose pigmentary phenotype and genetic interactions resemble those of Attractin (Atrn). Atrn mutations also cause spongiform neurodegeneration. Here, we show that a null mutation for mahoganoid causes a similar age-dependent neuropathology that includes many features of prion diseases but without accumulation of protease-resistant prion protein. The gene mutated in mahoganoid encodes a RING-containing protein with E3 ubiquitin ligase activity in vitro. Similarities in phenotype, expression, and genetic interactions suggest that mahoganoid and Atrn genes are part of a conserved pathway for regulated protein turnover whose function is essential for neuronal viability. |
