Article
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.
Proceedings of the National Academy of Sciences of the United States of America - 4 Feb 2003
Suzuki Tamio, Oiso Naoki, Gautam Rashi, Novak Edward K, Panthier Jean-Jacques, Suprabha P G, Vida Thomas, Swank Richard T, Spritz Richard A
Abstract excerpt
In the mouse, more than 16 loci are associated with mutant phenotypes that include defective pigmentation, aberrant targeting of lysosomal enzymes, prolonged bleeding, and immunodeficiency, the result of defective biogenesis of cytoplasmic organelles: melanosomes, lysosomes, and various storage granules. Many of these mouse mutants are homologous to the human Hermansky-Pudlak syndrome (HPS), Chediak-Higashi...
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