Related references
Note: Only part of the references are listed.MEK-ERK Pathway Modulation Ameliorates Pulmonary Fibrosis Associated with Epidermal Growth Factor Receptor Activation
Satish K. Madala et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2012)
Lysosomal Function and Dysfunction: Mechanism and Disease
Patricia Boya
ANTIOXIDANTS & REDOX SIGNALING (2012)
Mechanism of platelet dense granule biogenesis: study of cargo transport and function of Rab32 and Rab38 in a model system
Andrea L. Ambrosio et al.
BLOOD (2012)
SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models
Ronghua Meng et al.
BLOOD (2012)
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
Raffaele Badolato et al.
BLOOD (2012)
BLOC-3 Mutated in Hermansky-Pudlak Syndrome Is a Rab32/38 Guanine Nucleotide Exchange Factor
Andreas Gerondopoulos et al.
CURRENT BIOLOGY (2012)
Adaptor Protein-3 in Dendritic Cells Facilitates Phagosomal Toll-like Receptor Signaling and Antigen Presentation to CD4+ T Cells
Adriana R. Mantegazza et al.
IMMUNITY (2012)
Assembly and Architecture of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1)
Hyung Ho Lee et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
BLOC-2, AP-3, and AP-1 Proteins Function in Concert with Rab38 and Rab32 Proteins to Mediate Protein Trafficking to Lysosome-related Organelles
Jarred J. Bultema et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
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
Anand Sitaram et al.
MOLECULAR BIOLOGY OF THE CELL (2012)
Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease
Bernadette R. Gochuico et al.
MOLECULAR MEDICINE (2012)
Mechanisms of Protein Delivery to Melanosomes in Pigment Cells
Anand Sitaram et al.
PHYSIOLOGY (2012)
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8
Andrew R. Cullinane et al.
PIGMENT CELL & MELANOMA RESEARCH (2012)
Molecular architecture of the multisubunit homotypic fusion and vacuole protein sorting (HOPS) tethering complex
Cornelia Broecker et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
The BLOS1-Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome-Related Organelles
Qing Yang et al.
TRAFFIC (2012)
被撤回的出版物: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9 (Retracted article. See vol. 100, pg. 837, 2017)
Andrew R. Cullinane et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Uncovering the role of Snapin in regulating autophagy-lysosomal function
Qian Cai et al.
AUTOPHAGY (2011)
Snapin deficiency is associated with developmental defects of the central nervous system
Bing Zhou et al.
BIOSCIENCE REPORTS (2011)
The Tetraspanin CD63 Regulates ESCRT-Independent and -Dependent Endosomal Sorting during Melanogenesis
Guillaume van Niel et al.
DEVELOPMENTAL CELL (2011)
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways
Michela Palmieri et al.
HUMAN MOLECULAR GENETICS (2011)
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism
Aihua Wei et al.
JOURNAL OF DERMATOLOGICAL SCIENCE (2011)
Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia
Andrew R. Cullinane et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2011)
Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky-Pudlak Syndrome Patients of Hispanic Descent
Carmelo Carmona-Rivera et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2011)
Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells
Stephanie A. Zlatic et al.
MOLECULAR BIOLOGY OF THE CELL (2011)
The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse
Jennifer Larimore et al.
MOLECULAR BIOLOGY OF THE CELL (2011)
The ERM proteins interact with the HOPS complex to regulate the maturation of endosomes
Dafne Chirivino et al.
MOLECULAR BIOLOGY OF THE CELL (2011)
Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation
Diego J. Hoyle et al.
PIGMENT CELL & MELANOMA RESEARCH (2011)
Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation
Shosuke Ito et al.
PIGMENT CELL & MELANOMA RESEARCH (2011)
Synaptic Dysbindin-1 Reductions in Schizophrenia Occur in an Isoform-Specific Manner Indicating Their Subsynaptic Location
Konrad Talbot et al.
PLOS ONE (2011)
An AP-3-dependent mechanism drives synaptic-like microvesicle biogenesis in pancreatic islet β-cells
Arthur T. Suckow et al.
AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM (2010)
Epithelial Stress and Apoptosis Underlie Hermansky-Pudlak Syndrome-associated Interstitial Pneumonia
Poornima Mahavadi et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2010)
AGAP1/AP-3-dependent endocytic recycling of M5 muscarinic receptors promotes dopamine release
Jacob Bendor et al.
EMBO JOURNAL (2010)
Histochemical and cellular changes accompanying the appearance of lung fibrosis in an experimental mouse model for Hermansky Pudlak syndrome
Lingyan Wang et al.
HISTOCHEMISTRY AND CELL BIOLOGY (2010)
Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9
Daniel P. Kloer et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
RNAi screen identifies a role for adaptor protein AP-3 in sorting to the regulated secretory pathway
Cedric S. Asensio et al.
JOURNAL OF CELL BIOLOGY (2010)
BLOS1, a putative BLOC-1 subunit, interacts with SNX1 and modulates root growth in Arabidopsis
Yanyan Cui et al.
JOURNAL OF CELL SCIENCE (2010)
A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism
Aihua Wei et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2010)
Hermansky-Pudlak Protein Complexes, AP-3 and BLOC-1, Differentially Regulate Presynaptic Composition in the Striatum and Hippocampus
Karen Newell-Litwa et al.
JOURNAL OF NEUROSCIENCE (2010)
Dysbindin-1, WAVE2 and Abi-1 form a complex that regulates dendritic spine formation
H. Ito et al.
MOLECULAR PSYCHIATRY (2010)
Snapin-Regulated Late Endosomal Transport Is Critical for Efficient Autophagy-Lysosomal Function in Neurons
Qian Cai et al.
NEURON (2010)
The AP-3 β Adaptin Mediates the Biogenesis and Function of Lytic Vacuoles in Arabidopsis
Elena Feraru et al.
PLANT CELL (2010)
Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells
Amanda L. Blasius et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Bifurcation of Toll-Like Receptor 9 Signaling by Adaptor Protein 3
Miwa Sasai et al.
SCIENCE (2010)
Identifying Putative Promoter Regions of Hermansky-Pudlak Syndrome Genes by Means of Phylogenetic Footprinting
Horia Stanescu et al.
ANNALS OF HUMAN GENETICS (2009)
Regulation Mechanisms and Signaling Pathways of Autophagy
Congcong He et al.
ANNUAL REVIEW OF GENETICS (2009)
The Vps33a gene regulates behavior and cerebellar Purkinje cell number
Sreenivasulu Chintala et al.
BRAIN RESEARCH (2009)
AP-3-dependent trafficking and disease: the first decade
Esteban C. Dell'Angelica
CURRENT OPINION IN CELL BIOLOGY (2009)
Vps-C complexes: gatekeepers of endolysosomal traffic
Daniel P. Nickerson et al.
CURRENT OPINION IN CELL BIOLOGY (2009)
Neurobehavioral abnormalities in the dysbindin-1 mutant, sandy, on a C57BL/6J genetic background
M. M. Cox et al.
GENES BRAIN AND BEHAVIOR (2009)
Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression
Junxia Tang et al.
HUMAN MOLECULAR GENETICS (2009)
Hermansky-Pudlak Syndrome Protein Complexes Associate with Phosphatidylinositol 4-Kinase Type II α in Neuronal and Non-neuronal Cells
Gloria Salazar et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Vps33a Mediates RANKL Storage in Secretory Lysosomes in Osteoblastic Cells
Yoshiaki Kariya et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2009)
The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene
Aihua Wei et al.
JOURNAL OF DERMATOLOGICAL SCIENCE (2009)
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6
M. Huizing et al.
JOURNAL OF MEDICAL GENETICS (2009)
Localization to Mature Melanosomes by Virtue of Cytoplasmic Dileucine Motifs Is Required for Human OCA2 Function
Anand Sitaram et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
Roles of BLOC-1 and Adaptor Protein-3 Complexes in Cargo Sorting to Synaptic Vesicles
Karen Newell-Litwa et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
Varp Is a Novel Rab32/38-binding Protein That Regulates Tyrp1 Trafficking in Melanocytes
Kanako Tamura et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
HOPS Interacts with Apl5 at the Vacuole Membrane and Is Required for Consumption of AP-3 Transport Vesicles
Cortney G. Angers et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
Dysbindin regulates hippocampal LTP by controlling NMDA receptor surface expression
Tina Tze-Tsang Tang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function
Amanda L. Blasius et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Role of dysbindin in dopamine receptor trafficking and cortical GABA function
Yuanyuan Ji et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Involvement of Vps33a in the Fusion of Uroplakin-Degrading Multivesicular Bodies with Lysosomes
Xuemei Guo et al.
TRAFFIC (2009)
A Mutation in Rab38 Small GTPase Causes Abnormal Lung Surfactant Homeostasis and Aberrant Alveolar Structure in Mice
Kazuhiro Osanai et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics
Marjan Huizing et al.
Annual Review of Genomics and Human Genetics (2008)
Varp interacts with Rab38 and functions as its potential effector
Fang Wang et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)
Drosophila HOPS and AP-3 Complex Genes Are Required for a Deltex-Regulated Activation of Notch in the Endosomal Trafficking Pathway
Marian Wilkin et al.
DEVELOPMENTAL CELL (2008)
DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release
Xiao-Wei Chen et al.
JOURNAL OF CELL BIOLOGY (2008)
Formation and function of Weibel-Palade bodies
Daniel J. Metcalf et al.
JOURNAL OF CELL SCIENCE (2008)
MHC Class II Presentation of gp100 Epitopes in Melanoma Cells Requires the Function of Conventional Endosomes and Is Influenced by Melanosomes
Valentina Robila et al.
JOURNAL OF IMMUNOLOGY (2008)
Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes
Subba Rao Gangi Setty et al.
NATURE (2008)
Beclin1-binding UVRAG targets the class C Vps complex to coordinate autophagosome maturation and endocytic trafficking
Chengyu Liang et al.
NATURE CELL BIOLOGY (2008)
Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia
Ya-Qin Feng et al.
SCHIZOPHRENIA RESEARCH (2008)
Analysis of ocular Hypopigmentation in Rab38cht/cht mice
Brian P. Brooks et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Lysosome-related organelles: driving post-Golgi compartments into specialisation
Graca Raposo et al.
CURRENT OPINION IN CELL BIOLOGY (2007)
The CORVET tethering complex interacts with the yeast Rab5 homolog Vps21 and is involved in endo-lysosomal biogenesis
Karolina Peplowska et al.
DEVELOPMENTAL CELL (2007)
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles
Subba Rao Gangi Setty et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
Neuronal and non-neuronal functions of the AP-3 sorting machinery
Karen Newell-Litwa et al.
JOURNAL OF CELL SCIENCE (2007)
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules
Sreenivasulu Chintala et al.
BLOOD (2007)
Comparative proteomics of clathrin-coated vesicles
Georg H. H. Borner et al.
JOURNAL OF CELL BIOLOGY (2006)
The mammalian acrosome as a secretory lysosome: New and old evidence
Ricardo D. Moreno et al.
MOLECULAR REPRODUCTION AND DEVELOPMENT (2006)
Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes
Christina Wasmeier et al.
JOURNAL OF CELL BIOLOGY (2006)
BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes
G. Salazar et al.
MOLECULAR BIOLOGY OF THE CELL (2006)
BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes
Santiago M. Di Pietro et al.
MOLECULAR BIOLOGY OF THE CELL (2006)
Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17
Alexander C. Theos et al.
MOLECULAR BIOLOGY OF THE CELL (2006)
Interaction of Hermansky-Pudlak syndrome genes in the regulation of lysosome-related organelles
Rashi Gautam et al.
TRAFFIC (2006)
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II
Anselm Enders et al.
BLOOD (2006)
Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3
Chad P. Grabner et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Innate immunity defects in Hennansky-Pudlak type 2 syndrome
Stefania Fontana et al.
BLOOD (2006)
P-selectin and CD63 use different mechanisms for delivery to Weibel-Palade bodies
KJ Harrison-Lavoie et al.
TRAFFIC (2006)
Mutational data integration in gene-oriented files of the Hermansky-Pudlak syndrome database
W Li et al.
HUMAN MUTATION (2006)
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function
ML Wei
PIGMENT CELL RESEARCH (2006)
Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia
T Tolmachova et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
NV Morgan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The role of snapin in neurosecretion:: Snapin knock-out mice exhibit impaired calcium-dependent exocytosis of large dense-core vesicles in chromaffin cells
JH Tian et al.
JOURNAL OF NEUROSCIENCE (2005)
Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes
AC Theos et al.
MOLECULAR BIOLOGY OF THE CELL (2005)
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein
S Ito et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2005)
Mouse chromaffin cells have two populations of dense core vesicles
CP Grabner et al.
JOURNAL OF NEUROPHYSIOLOGY (2005)
An AP-1/clathrin coat plays a novel and essential role in forming the Weibel-Palade bodies of endothelial cells
WWY Lui-Roberts et al.
JOURNAL OF CELL BIOLOGY (2005)
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells
S Chintala et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Defective surfactant secretion in a mouse model of Hermansky-Pudlak syndrome
SH Guttentag et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2005)
The cell biology of Hermansky-Pudiak syndrome: Recent advances
SM Di Pietro et al.
TRAFFIC (2005)
Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV
G Bossi et al.
TRAFFIC (2005)
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak Syndrome-type 3
RE Boissy et al.
AMERICAN JOURNAL OF PATHOLOGY (2005)
Genetic analysis of the neuronal and ubiquitous AP-3 adaptor complexes reveals divergent functions in brain
E Seong et al.
MOLECULAR BIOLOGY OF THE CELL (2005)
The rat Ruby (R) locus is Rab38:: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain
N Oiso et al.
MAMMALIAN GENOME (2004)
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
P Gissen et al.
NATURE GENETICS (2004)
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
SM Di Pietro et al.
TRAFFIC (2004)
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2)
R Gautam et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
M Huizing et al.
TRAFFIC (2004)
Rab3D and annexin A2 play a role in regulated secretion of vWF, but not tPA, from endothelial cells
M Knop et al.
EMBO JOURNAL (2004)
The building BLOC(k)s of lysosomes and related organelles
EC Dell'Angelica
CURRENT OPINION IN CELL BIOLOGY (2004)
Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)
M Starcevic et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOG-1 complex
B Gwynn et al.
BLOOD (2004)
AP-3-dependent mechanisms control the targeting of a chloride channel (ClC-3) in neuronal and non-neuronal cells
G Salazar et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Murine Hermansky-Pudiak syndrome genes: regulators of lysosome-related organelles
W Li et al.
BIOESSAYS (2004)
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis
EB Bachli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Defective function of GABA-containing synaptic vesicles in mice lacking the AP-3B clathrin adaptor
F Nakatsu et al.
JOURNAL OF CELL BIOLOGY (2004)
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse
RH Clark et al.
NATURE IMMUNOLOGY (2003)
Weibel-Palade bodies recruit Rab27 by a content-driven, maturation-dependent mechanism that is independent of cell type
MJ Hannah et al.
JOURNAL OF CELL SCIENCE (2003)
Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome
TA Lyerla et al.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2003)
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
W Li et al.
NATURE GENETICS (2003)
Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA
T Suzuki et al.
JOURNAL OF DERMATOLOGICAL SCIENCE (2003)
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
G Ménasché et al.
JOURNAL OF CLINICAL INVESTIGATION (2003)
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
JA Martina et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Biogenesis of lysosome-related organelles complex 3 (BLOC-3):: A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
R Nazarian et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)
SL Ciciotte et al.
BLOOD (2003)
The Hermansky-Pudlak Syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles
PW Chiang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
deep-orange and carnation define distinct stages in late endosomal biogenesis in Drosophila melanogaster
V Sriram et al.
JOURNAL OF CELL BIOLOGY (2003)
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation
T Suzuki et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
Q Zhang et al.
NATURE GENETICS (2003)
Hermansky-Pudlak Syndrome Type 1: Gene Organization, Novel Mutations, and Clinical-Molecular Review of Non-Puerto Rican Cases
Christina R. Hermos et al.
HUMAN MUTATION (2002)
BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
JM Falcón-Pérez et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Cell-specific abnormal prenylation of Rab proteins in platelets and melanocytes of the gunmetal mouse
Q Zhang et al.
BRITISH JOURNAL OF HAEMATOLOGY (2002)
Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells
M Sugita et al.
IMMUNITY (2002)
Mutation of melanosome protein RAB38 in chocolate mice
SK Loftus et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
The dark side of lysosome-related organelles: Specialization of the endocytic pathway for melanosome biogenesis
G Raposo et al.
TRAFFIC (2002)
The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking
Q Zhang et al.
HUMAN MOLECULAR GENETICS (2002)
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome
MA Karim et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
M Huizing et al.
PEDIATRIC RESEARCH (2002)
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene
T Suzuki et al.
GENOMICS (2001)
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
M Huizing et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The melanosome: Membrane dynamics in black and white
MS Marks et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2001)
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
Y Anikster et al.
NATURE GENETICS (2001)
AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes
M Huizing et al.
MOLECULAR BIOLOGY OF THE CELL (2001)
Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain
MA Benson et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Secretory granule biogenesis: rafting to the SNARE
SA Tooze et al.
TRENDS IN CELL BIOLOGY (2001)
Rab27a is required for regulated secretion in cytotoxic T lymphocytes
JC Stinchcombe et al.
JOURNAL OF CELL BIOLOGY (2001)
5′-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase α-subunit (RABGGTA) gene
W Li et al.
MOLECULAR GENETICS AND METABOLISM (2000)
Hermansky-Pudlak syndrome and related disorders of organelle formation
M Huizing et al.
TRAFFIC (2000)
A mutation in Rab27a causes the vesicle transport defects observed in ashen mice
SM Wilson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Lysosome-related organelles
EC Dell'Angelica et al.
FASEB JOURNAL (2000)
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
G Ménasché et al.
NATURE GENETICS (2000)
Rab geranylgeranyl transferase α mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis
JC Detter et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Hermansky-Pudlak syndrome and pale ear: Melanosome-making for the millennium
RA Spritz
PIGMENT CELL RESEARCH (2000)
Share Paper
