Ontology highlight
ABSTRACT:
SUBMITTER: Dennis MK
PROVIDER: S-EPMC4442807 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Dennis Megan K MK Mantegazza Adriana R AR Snir Olivia L OL Tenza Danièle D Acosta-Ruiz Amanda A Delevoye Cédric C Zorger Richard R Sitaram Anand A de Jesus-Rojas Wilfredo W Ravichandran Keerthana K Rux John J Sviderskaya Elena V EV Bennett Dorothy C DC Raposo Graça G Marks Michael S MS Setty Subba Rao Gangi SR
The Journal of cell biology 20150501 4
Hermansky-Pudlak syndrome (HPS) is a group of disorders characterized by the malformation of lysosome-related organelles, such as pigment cell melanosomes. Three of nine characterized HPS subtypes result from mutations in subunits of BLOC-2, a protein complex with no known molecular function. In this paper, we exploit melanocytes from mouse HPS models to place BLOC-2 within a cargo transport pathway from recycling endosomal domains to maturing melanosomes. In BLOC-2-deficient melanocytes, the me ...[more]