Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
TLDR
This review discusses the main components of LRO biogenesis, and summarizes the function, composition, and resident cell types of the major LROs.Citations
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The Cell Biology of Phagocytosis
TL;DR: Current knowledge of the cellular and molecular basis of phagosome formation and maturation is summarized and the manner in which phagocytosis is subverted by certain pathogens is discussed.
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Neutrophil Elastase, Proteinase 3, and Cathepsin G as Therapeutic Targets in Human Diseases
TL;DR: The physicochemical functions of hematopoietic serine proteases are described, toward a goal of better delineating their role in human diseases and identifying new therapeutic strategies based on the modulation of their bioavailability and activity.
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The lysosome: from waste bag to potential therapeutic target
TL;DR: This review focuses on lysosomal involvement in digestion of intra- and extracellular material, plasma membrane repair, cholesterol homeostasis, and cell death.
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Discerning the Chemistry in Individual Organelles with Small-Molecule Fluorescent Probes.
TL;DR: This Review summarizes the existing fluorescent probes that target chemical/biological events within a single organelle and organelle-anchoring strategies are described and emphasized to inspire the design of new generations of fluorescent probes, before concluding with future prospects on the possible further development of chemical biology.
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Platelet secretion: From haemostasis to wound healing and beyond
TL;DR: Current understanding of the roles of platelet secretion in health and disease is summarized, and some of the hypotheses that may explain how platelets may control the release of its many secreted components in a context-specific manner are discussed to allow platelets to play multiple roles in health.
References
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Book
The Metabolic and Molecular Bases of Inherited Disease
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
Journal ArticleDOI
The Mechanisms of Vesicle Budding and Fusion
TL;DR: Genetic and biochemical analyses of the secretory pathway have produced a detailed picture of the molecular mechanisms involved in selective cargo transport between organelles, including Vesicle budding and cargo selection, which depend on a machinery that includes the SNARE proteins.
Journal ArticleDOI
The Biogenesis of Lysosomes
Stuart Kornfeld,Ira Mellman +1 more
TL;DR: Article de synthese sur les lysosomes: biogenese, definition, role biologique, Les enzymes lysOSomales sont decrites ainsi that leur role dans l'exo et l'endocytose.
Journal ArticleDOI
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
Gaël Ménasché,Pastural E,Jérôme Feldmann,Stéphanie Certain,Fügen Ersoy,Stéphanie Dupuis,NM Wulffraat,Diana W. Bianchi,Alain Fischer,Alain Fischer,Le Deist F,Le Deist F,de Saint Basile G +12 more
TL;DR: The GTP-binding protein RAB27A appears to be involved in the control of the immune system, as all patients with RAB 27A mutations, but none with the MYO5A mutation, developed HS.
Journal ArticleDOI
Conversion of Membrane-bound Fas(CD95) Ligand to Its Soluble Form Is Associated with Downregulation of Its Proapoptotic Activity and Loss of Liver Toxicity
Pascal Schneider,Nils Holler,Jean Luc Bodmer,Michael Hahne,Karl Frei,Adriano Fontana,Jürg Tschopp +6 more
TL;DR: The results indicate that the mere trimerization of the Fas and TRAIL receptors may not be sufficient to trigger death signals, and the observation that sFasL is less cytotoxic than membrane-bound FasL may explain why in certain types of cancer, systemic tissue damage is not detected, even though the levels of circulating sFAsL are high.
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F. Hermansky,P. Pudlak +1 more
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Wei Li,Qing Zhang,Naoki Oiso,Edward K. Novak,Rashi Gautam,Edward P. O'Brien,Caroline L. Tinsley,Derek J. Blake,Richard A. Spritz,Neal G. Copeland,Nancy A. Jenkins,Dominick Amato,Bruce A. Roe,Marta Starcevic,Esteban C. Dell'Angelica,Rosemary W. Elliott,Vishnu S. Mishra,Stephen F. Kingsmore,Richard Paylor,Richard T. Swank +19 more