Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome

M Huizing, JM Parkes, A Helip-Wooley, JG White… - Platelets, 2007 - Taylor & Francis
Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis
that displays genetic locus heterogeneity. The eight known HPS proteins combine in …

Genetic variants associated with Hermansky-Pudlak syndrome

MA Merideth, WJ Introne, JA Wang, KJ O'Brien… - Platelets, 2020 - Taylor & Francis
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by
defective biogenesis of lysosome-related organelles. Clinical manifestations include a …

Hermansky-Pudlak syndrome

I Sánchez-Guiu, JM Torregrosa, F Velasco… - …, 2014 - thieme-connect.com
Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder affecting
lysosome-related organelles (LRO), including dense platelet granules. HPS causes oculo …

Novel mutation in two brothers with Hermansky Pudlak syndrome type 3

K Sandrock-Lang, I Bartsch, N Buechele… - Blood Cells, Molecules …, 2017 - Elsevier
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing
oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS …

Characterization of BLOC‐2, a complex containing the Hermansky–Pudlak syndrome proteins HPS3, HPS5 and HPS6

SM Di Pietro, JM Falcón‐Pérez, EC Dell'Angelica - Traffic, 2004 - Wiley Online Library
Hermansky–Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive
disorders characterized by albinism and prolonged bleeding due to defects in the lysosome …

Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky–Pudlak syndrome: role of insC974 in platelet function and clinical …

R González‐Conejero, J Rivera… - British journal of …, 2003 - Wiley Online Library
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which is
genetically heterogeneous. In humans, mutations associated with this syndrome have been …

Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4

R Nazarian, JM Falcón-Pérez… - Proceedings of the …, 2003 - National Acad Sciences
Hermansky–Pudlak syndrome (HPS) defines a group of autosomal recessive disorders
characterized by deficiencies in lysosome-related organelles such as melanosomes and …

RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

AR Cullinane, JA Curry, C Carmona-Rivera… - The American Journal of …, 2011 - cell.com
Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by
oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules …

Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)

SL Ciciotte, B Gwynn, K Moriyama, M Huizing, WA Gahl… - Blood, 2003 - ashpublications.org
Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis affecting 3 related
organelles—melanosomes, platelet dense bodies, and lysosomes. Four genes causing HPS …

[HTML][HTML] Improper trafficking of melanocyte-specific proteins in Hermansky–Pudlak syndrome type-5

A Helip-Wooley, W Westbroek, HM Dorward… - Journal of Investigative …, 2007 - Elsevier
Hermansky–Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis
resulting in melanosome dysfunction and absent platelet dense bodies. HPS patients have …