Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis

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

Mechanism of platelet dense granule biogenesis: study of cargo transport and function of Rab32 and Rab38 in a model system

(2012) A. L. Ambrosio et al.   BLOOD

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

BLOC-3 Mutated in Hermansky-Pudlak Syndrome Is a Rab32/38 Guanine Nucleotide Exchange Factor

(2012) Andreas Gerondopoulos et al.   CURRENT BIOLOGY

Adaptor Protein-3 in Dendritic Cells Facilitates Phagosomal Toll-like Receptor Signaling and Antigen Presentation to CD4+ T Cells

(2012) Adriana R. Mantegazza et al.   IMMUNITY

BLOC-2, AP-3, and AP-1 Proteins Function in Concert with Rab38 and Rab32 Proteins to Mediate Protein Trafficking to Lysosome-related Organelles

(2012) Jarred J. Bultema et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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(2012) Bernadette Gochuico et al.   MOLECULAR MEDICINE

Mechanisms of Protein Delivery to Melanosomes in Pigment Cells

(2012) Anand Sitaram et al.   PHYSIOLOGY

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

(2012) Andrew R. Cullinane et al.   Pigment Cell & Melanoma Research

Molecular architecture of the multisubunit homotypic fusion and vacuole protein sorting (HOPS) tethering complex

(2012) C. Brocker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

MEK-ERK Pathway Modulation Ameliorates Pulmonary Fibrosis Associated with Epidermal Growth Factor Receptor Activation

(2011) Satish K. Madala et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Lysosomal Function and Dysfunction: Mechanism and Disease

(2011) Patricia Boya   ANTIOXIDANTS & REDOX SIGNALING

Uncovering the role of Snapin in regulating autophagy-lysosomal function

(2011) Qian Cai et al.   Autophagy

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

(2011) Guillaume van Niel et al.   DEVELOPMENTAL CELL

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

(2011) Michela Palmieri et al.   HUMAN MOLECULAR GENETICS

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

Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky–Pudlak Syndrome Patients of Hispanic Descent

(2011) Carmelo Carmona-Rivera et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells

(2011) Stephanie A. Zlatic et al.   MOLECULAR BIOLOGY OF THE CELL

The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse

(2011) Jennifer Larimore et al.   MOLECULAR BIOLOGY OF THE CELL

Synaptic Dysbindin-1 Reductions in Schizophrenia Occur in an Isoform-Specific Manner Indicating Their Subsynaptic Location

(2011) Konrad Talbot et al.   PLoS One

An AP-3-dependent mechanism drives synaptic-like microvesicle biogenesis in pancreatic islet β-cells

(2010) Arthur T. Suckow et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Epithelial Stress and Apoptosis Underlie Hermansky-Pudlak Syndrome–associated Interstitial Pneumonia

(2010) Poornima Mahavadi et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Snapindeficiency is associated with developmental defects of the central nervous system

(2010) Bing Zhou et al.   BIOSCIENCE REPORTS

AGAP1/AP-3-dependent endocytic recycling of M5 muscarinic receptors promotes dopamine release

(2010) Jacob Bendor et al.   EMBO JOURNAL

Histochemical and cellular changes accompanying the appearance of lung fibrosis in an experimental mouse model for Hermansky Pudlak syndrome

(2010) Lingyan Wang et al.   HISTOCHEMISTRY AND CELL BIOLOGY

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

RNAi screen identifies a role for adaptor protein AP-3 in sorting to the regulated secretory pathway

(2010) Cédric S. Asensio et al.   JOURNAL OF CELL BIOLOGY

BLOS1, a putative BLOC-1 subunit, interacts with SNX1 and modulates root growth in Arabidopsis

(2010) Y. Cui et al.   JOURNAL OF CELL SCIENCE

Hermansky-Pudlak Protein Complexes, AP-3 and BLOC-1, Differentially Regulate Presynaptic Composition in the Striatum and Hippocampus

(2010) K. Newell-Litwa et al.   JOURNAL OF NEUROSCIENCE

The ERM proteins interact with the HOPS complex to regulate the maturation of endosomes

(2010) Dafne Chirivino et al.   MOLECULAR BIOLOGY OF THE CELL

Dysbindin-1, WAVE2 and Abi-1 form a complex that regulates dendritic spine formation

(2010) H Ito et al.   MOLECULAR PSYCHIATRY

Snapin-Regulated Late Endosomal Transport Is Critical for Efficient Autophagy-Lysosomal Function in Neurons

(2010) Qian Cai et al.   NEURON

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

The AP-3   Adaptin Mediates the Biogenesis and Function of Lytic Vacuoles in Arabidopsis

(2010) E. Feraru et al.   PLANT CELL

Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells

(2010) A. L. Blasius et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bifurcation of Toll-Like Receptor 9 Signaling by Adaptor Protein 3

(2010) M. Sasai et al.   SCIENCE

Identifying Putative Promoter Regions of Hermansky-Pudlak Syndrome Genes by Means of Phylogenetic Footprinting

(2009) Horia Stanescu et al.   ANNALS OF HUMAN GENETICS

Regulation Mechanisms and Signaling Pathways of Autophagy

(2009) Congcong He et al.   Annual Review of Genetics

The Vps33a gene regulates behavior and cerebellar Purkinje cell number

(2009) Sreenivasulu Chintala et al.   BRAIN RESEARCH

AP-3-dependent trafficking and disease: the first decade

(2009) Esteban C Dell’Angelica   CURRENT OPINION IN CELL BIOLOGY

Vps-C complexes: gatekeepers of endolysosomal traffic

(2009) Daniel P Nickerson et al.   CURRENT OPINION IN CELL BIOLOGY

Neurobehavioral abnormalities in the dysbindin-1 mutant, sandy, on a C57BL/6J genetic background

(2009) M. M. Cox et al.   GENES BRAIN AND BEHAVIOR

Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression

(2009) J. Tang et al.   HUMAN MOLECULAR GENETICS

Vps33a Mediates RANKL Storage in Secretory Lysosomes in Osteoblastic Cells

(2009) Yoshiaki Kariya et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The first case report of a Chinese Hermansky–Pudlak syndrome patient with a novel mutation on HPS1 gene

(2009) Aihua Wei et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

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

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

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

(2009) M Huizing et al.   JOURNAL OF MEDICAL GENETICS

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

Varp Is a Novel Rab32/38-binding Protein That Regulates Tyrp1 Trafficking in Melanocytes

(2009) Kanako Tamura 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

Dysbindin regulates hippocampal LTP by controlling NMDA receptor surface expression

(2009) Tina Tze-Tsang Tang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mice with mutations ofDock7have generalized hypopigmentation and white-spotting but show normal neurological function

(2009) Amanda L. Blasius et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Role of dysbindin in dopamine receptor trafficking and cortical GABA function

(2009) Y. Ji et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Involvement of Vps33a in the Fusion of Uroplakin-Degrading Multivesicular Bodies with Lysosomes

(2009) Xuemei Guo et al.   TRAFFIC

A Mutation in Rab38 Small GTPase Causes Abnormal Lung Surfactant Homeostasis and Aberrant Alveolar Structure in Mice

(2008) Kazuhiro Osanai et al.   AMERICAN JOURNAL OF PATHOLOGY

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

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

Varp interacts with Rab38 and functions as its potential effector

(2008) Fang Wang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Drosophila HOPS and AP-3 Complex Genes Are Required for a Deltex-Regulated Activation of Notch in the Endosomal Trafficking Pathway

(2008) Marian Wilkin et al.   DEVELOPMENTAL CELL

Hermansky-Pudlak Syndrome Protein Complexes Associate with Phosphatidylinositol 4-Kinase Type II α in Neuronal and Non-neuronal Cells

(2008) Gloria Salazar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release

(2008) Xiao-Wei Chen et al.   JOURNAL OF CELL BIOLOGY

Localization to Mature Melanosomes by Virtue of Cytoplasmic Dileucine Motifs Is Required for Human OCA2 Function

(2008) Anand Sitaram et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2008) Subba Rao Gangi Setty et al.   NATURE

Beclin1-binding UVRAG targets the class C Vps complex to coordinate autophagosome maturation and endocytic trafficking

(2008) Chengyu Liang et al.   NATURE CELL BIOLOGY

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

(2008) Y FENG et al.   SCHIZOPHRENIA RESEARCH

Formation and function of Weibel-Palade bodies

(2007) D. J. Metcalf et al.   JOURNAL OF CELL SCIENCE