Spongiform degeneration in mahoganoid mutant mice.
Science
; 299(5607): 710-2, 2003 Jan 31.
Article
in En
| MEDLINE
| ID: mdl-12560552
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Brain
/
Carrier Proteins
/
Neurodegenerative Diseases
/
Mutation
Type of study:
Prognostic_studies
Limits:
Animals
Language:
En
Journal:
Science
Year:
2003
Document type:
Article
Affiliation country:
United States