Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis
出版年份 2012 全文链接
标题
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis
作者
关键词
-
出版物
Pigment Cell & Melanoma Research
Volume 26, Issue 2, Pages 176-192
出版商
Wiley
发表日期
2012-11-22
DOI
10.1111/pcmr.12051
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
- Unknown
- (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
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