Article
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).
Traffic (Copenhagen, Denmark) - 1 Feb 2007
Falcón-Pérez Juan M, Romero-Calderón Rafael, Brooks Elizabeth S, Krantz David E, Dell'Angelica Esteban C
Abstract excerpt
Lysosome-related organelles comprise a group of specialized intracellular compartments that include melanosomes and platelet dense granules (in mammals) and eye pigment granules (in insects). In humans, the biogenesis of these organelles is defective in genetic disorders collectively known as Hermansky-Pudlak syndrome (HPS). Patients with HPS-2, and two murine HPS models, carry mutations in genes encoding...
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