Hypopigmentation in Hermansky-Pudlak syndrome

MHC Class II Presentation of gp100 Epitopes in Melanoma Cells Requires the Function of Conventional Endosomes and Is Influenced by Melanosomes

(2014) V. Robila et al.   JOURNAL OF IMMUNOLOGY

SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models

(2012) R. Meng et al.   BLOOD

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

(2012) R. Badolato et al.   BLOOD

Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes

(2012) Anand Sitaram et al.   MOLECULAR BIOLOGY OF THE CELL

Mechanisms of Protein Delivery to Melanosomes in Pigment Cells

(2012) Anand Sitaram et al.   PHYSIOLOGY

The BLOS1-Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome-Related Organelles

(2012) Qing Yang et al.   TRAFFIC

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

(2011) Andrew R. Cullinane et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Tetraspanin CD63 Regulates ESCRT-Independent and -Dependent Endosomal Sorting during Melanogenesis

(2011) Guillaume van Niel et al.   DEVELOPMENTAL CELL

Assembly and Architecture of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1)

(2011) Hyung Ho Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism

(2011) Aihua Wei et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

(2011) Andrew R. Cullinane et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9

(2010) Daniel P. Kloer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation

(2010) Diego J. Hoyle et al.   Pigment Cell & Melanoma Research

Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation

(2010) Shosuke Ito et al.   Pigment Cell & Melanoma Research

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

(2009) Aihua Wei et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Roles of BLOC-1 and Adaptor Protein-3 Complexes in Cargo Sorting to Synaptic Vesicles

(2009) Karen Newell-Litwa et al.   MOLECULAR BIOLOGY OF THE CELL

HOPS Interacts with Apl5 at the Vacuole Membrane and Is Required for Consumption of AP-3 Transport Vesicles

(2009) Cortney G. Angers et al.   MOLECULAR BIOLOGY OF THE CELL

ESCRT-I Function is Required for Tyrp1 Transport from Early Endosomes to the Melanosome Limiting Membrane

(2009) Steven T. Truschel et al.   TRAFFIC

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

(2008) Marjan Huizing et al.   Annual Review of Genomics and Human Genetics

Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes

(2008) Subba Rao Gangi Setty et al.   NATURE

Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia

(2008) Y FENG et al.   SCHIZOPHRENIA RESEARCH