标题
New insights into the pathogenesis of Hermansky–Pudlak syndrome
作者
关键词
-
出版物
Pigment Cell & Melanoma Research
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2022-02-07
DOI
10.1111/pcmr.13030
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Inflammatory bowel disease in Hermansky–Pudlak syndrome: a retrospective single‐centre cohort study
- (2021) K. J. O’Brien et al. JOURNAL OF INTERNAL MEDICINE
- A zinc transporter, transmembrane protein 163 (TMEM163), is critical for the biogenesis of platelet dense granules
- (2021) Yefeng Yuan et al. BLOOD
- The first Hermansky–Pudlak syndrome type 9 patient with two novel variants in Chinese population
- (2021) Teng Liu et al. JOURNAL OF DERMATOLOGY
- A BLOC-1–AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers
- (2021) Shanna L. Bowman et al. JOURNAL OF CELL BIOLOGY
- Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse
- (2021) Almudena Fernández et al. Pigment Cell & Melanoma Research
- AP-3–dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells
- (2021) Seunghyi Kook et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Melanosome biogenesis in the pigmentation of mammalian skin
- (2021) Linh Le et al. INTEGRATIVE AND COMPARATIVE BIOLOGY
- Weibel Palade Bodies: Unique Secretory Organelles of Endothelial Cells that Control Blood Vessel Homeostasis
- (2021) Johannes Naß et al. Frontiers in Cell and Developmental Biology
- Orchestration of Primary Hemostasis by Platelet and Endothelial Lysosome-Related Organelles
- (2020) Ellie Karampini et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
- (2020) Perrine Pennamen et al. GENETICS IN MEDICINE
- Genetic Variants and Mutational Spectrum of Chinese Hermansky‐Pudlak Syndrome Patients
- (2020) Teng Liu et al. Pigment Cell & Melanoma Research
- Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells.
- (2019) Ellie Karampini et al. HAEMATOLOGICA
- The road to lysosome‐related organelles: Insights from Hermansky‐Pudlak syndrome and other rare diseases
- (2019) Shanna L. Bowman et al. TRAFFIC
- Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production
- (2019) Zhao Zhang et al. JOURNAL OF CELL SCIENCE
- Lysosome-related organelles as functional adaptations of the endolysosomal system
- (2019) Cédric Delevoye et al. CURRENT OPINION IN CELL BIOLOGY
- Paneth Cells during Viral Infection and Pathogenesis
- (2018) Mayumi Holly et al. Viruses-Basel
- Sorting machineries: how platelet-dense granules differ from α-granules
- (2018) Yuanying Chen et al. BIOSCIENCE REPORTS
- Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder
- (2018) Mohammed Mohammed et al. European Journal of Medical Genetics
- Exocytosis of Weibel–Palade bodies: how to unpack a vascular emergency kit
- (2018) M. Schillemans et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- SLC35D3 increases autophagic activity in midbrain dopaminergic neurons by enhancing BECN1-ATG14-PIK3C3 complex formation
- (2016) Zong-Bo Wei et al. Autophagy
- Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
- (2016) S. Ammann et al. BLOOD
- BLOC-1 Brings Together the Actin and Microtubule Cytoskeletons to Generate Recycling Endosomes
- (2016) Cédric Delevoye et al. CURRENT BIOLOGY
- Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficientpearlMice
- (2016) Seunghyi Kook et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers
- (2016) Megan K. Dennis et al. JOURNAL OF CELL BIOLOGY
- BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells
- (2016) Jing Ma et al. Journal of Genetics and Genomics
- Storage pool diseases illuminate platelet dense granule biogenesis
- (2016) Andrea L. Ambrosio et al. PLATELETS
- BLOS2 negatively regulates Notch signaling during neural and hematopoietic stem and progenitor cell development
- (2016) Wenwen Zhou et al. eLife
- Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33AD251Emutation
- (2015) Yuanli Zhen et al. Autophagy
- BORC, a Multisubunit Complex that Regulates Lysosome Positioning
- (2015) Jing Pu et al. DEVELOPMENTAL CELL
- Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity
- (2015) Rik van der Kant et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery
- (2015) Megan K. Dennis et al. JOURNAL OF CELL BIOLOGY
- Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells
- (2015) Z. Hao et al. JOURNAL OF CELL SCIENCE
- Impaired Autophagy in Hilar Mossy Cells of the Dentate Gyrus and Its Implication in Schizophrenia
- (2015) Yefeng Yuan et al. Journal of Genetics and Genomics
- Commensal bacteria direct selective cargo sorting to promote symbiosis
- (2015) Qin Zhang et al. NATURE IMMUNOLOGY
- Defective release of granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models
- (2014) R. Meng et al. BLOOD
- Mitochondria and Melanosomes Establish Physical Contacts Modulated by Mfn2 and Involved in Organelle Biogenesis
- (2014) Tiziana Daniele et al. CURRENT BIOLOGY
- Biogenesis of Lysosome-related Organelles Complex-1 Subunit 1 (BLOS1) Interacts with Sorting Nexin 2 and the Endosomal Sorting Complex Required for Transport-I (ESCRT-I) Component TSG101 to Mediate the Sorting of Epidermal Growth Factor Receptor into Endosomal Compartments
- (2014) Aili Zhang et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Recycling Endosome Tubule Morphogenesis from Sorting Endosomes Requires the Kinesin Motor KIF13A
- (2014) Cédric Delevoye et al. Cell Reports
- Lysosome-related organelles: unusual compartments become mainstream
- (2013) Michael S Marks et al. CURRENT OPINION IN CELL BIOLOGY
- Self-Assembly of VPS41 Promotes Sorting Required for Biogenesis of the Regulated Secretory Pathway
- (2013) Cédric S. Asensio et al. DEVELOPMENTAL CELL
- GCN5-like Protein 1 (GCN5L1) Controls Mitochondrial Content through Coordinated Regulation of Mitochondrial Biogenesis and Mitophagy
- (2013) Iain Scott et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Hypopigmentation in Hermansky-Pudlak syndrome
- (2013) Ai-Hua Wei et al. JOURNAL OF DERMATOLOGY
- Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism
- (2013) Ai-Hua Wei et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky–Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα
- (2013) P. V. Ryder et al. MOLECULAR BIOLOGY OF THE CELL
- 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
- Transporters in human platelets: physiologic function and impact for pharmacotherapy
- (2012) G. Jedlitschky 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
- Structure, regulation and cellular functions of Rab geranylgeranyl transferase and its cellular partner Rab Escort Protein
- (2012) Malgorzata Gutkowska et al. MOLECULAR MEMBRANE BIOLOGY
- Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis
- (2012) Ai-Hua Wei et al. Pigment Cell & Melanoma Research
- The BLOS1-Interacting Protein KXD1 is Involved in the Biogenesis of Lysosome-Related Organelles
- (2012) Qing Yang et al. TRAFFIC
- 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
- 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
- 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
- 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
- Snapin-Regulated Late Endosomal Transport Is Critical for Efficient Autophagy-Lysosomal Function in Neurons
- (2010) Qian Cai et al. NEURON
- 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
- Direct interaction of Dysbindin with the AP-3 complex via its μ subunit
- (2009) Setsuko Taneichi-Kuroda et al. NEUROCHEMISTRY INTERNATIONAL
- Snapin Facilitates the Synchronization of Synaptic Vesicle Fusion
- (2009) Ping-Yue Pan et al. NEURON
- 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
- 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
- The role of Rab38 in platelet dense granule defects
- (2008) I. NINKOVIC et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia
- (2008) Y FENG et al. SCHIZOPHRENIA RESEARCH
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