Article
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
PloS one - 1 Jan 2017
Stephen Joshi, Yokoyama Tadafumi, Tolman Nathanial J, O'Brien Kevin J, Nicoli Elena-Raluca, Brooks Brian P, Huryn Laryssa, Titus Steven A, Adams David R, Chen Dong, Gahl William A, Gochuico Bernadette R, Malicdan May Christine V
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related Organelle Complexes (BLOCs), which are groups of proteins that function together in the formation and/or trafficking of...
Topics
Join the communities discussing this publication.