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Article

Upregulation of the Rab27a-Dependent Trafficking and Secretory Mechanisms Improves Lysosomal Transport, Alleviates Endoplasmic Reticulum Stress, and Reduces Lysosome Overload in Cystinosis

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Pages 2950-2962 | Received 10 Apr 2013, Accepted 18 May 2013, Published online: 20 Mar 2023

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Farhana Rahman, Jennifer L. Johnson, Jinzhong Zhang, Jing He, Kersi Pestonjamasp, Stephanie Cherqui & Sergio D. Catz. (2022) DYNC1LI2 regulates localization of the chaperone-mediated autophagy receptor LAMP2A and improves cellular homeostasis in cystinosis. Autophagy 18:5, pages 1108-1126.
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Jinzhong Zhang, Jing He, Jennifer L. Johnson, Gennaro Napolitano, Mahalakshmi Ramadass, Farhana Rahman & Sergio D. Catz. (2019) Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency. Autophagy 15:10, pages 1738-1756.
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Martine TP Besouw, Francesco Emma & Elena N Levtchenko. (2013) Management of nephropathic cystinosis. Expert Opinion on Orphan Drugs 1:12, pages 1031-1039.
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Mark Löbel, Sacha P. Salphati, Kamel El Omari, Armin Wagner, Stephen J. Tucker, Joanne L. Parker & Simon Newstead. (2022) Structural basis for proton coupled cystine transport by cystinosin. Nature Communications 13:1.
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Elena Sendino Garví, Rosalinde Masereeuw & Manoe J. Janssen. (2022) Bioengineered Cystinotic Kidney Tubules Recapitulate a Nephropathic Phenotype. Cells 11:1, pages 177.
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Stephanie Cherqui. (2021) Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside. Cells 10:12, pages 3273.
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Amer Jamalpoor, Amr Othman, Elena N. Levtchenko, Rosalinde Masereeuw & Manoe J. Janssen. (2021) Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis. Trends in Molecular Medicine 27:7, pages 673-686.
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Beatrice Paola Festa, Marine Berquez, Daniela Nieri & Alessandro Luciani. 2023. Organelles in Disease. Organelles in Disease 233 257 .
Shani Blumenreich, Or B. Barav, Bethan J. Jenkins & Anthony H. Futerman. (2020) Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease. International Journal of Molecular Sciences 21:14, pages 4966.
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Nihad Tousson-Abouelazm, Joan Papillon, Julie Guillemette & Andrey V. Cybulsky. (2020) Urinary ERdj3 and mesencephalic astrocyte-derived neutrophic factor identify endoplasmic reticulum stress in glomerular disease. Laboratory Investigation 100:7, pages 945-958.
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Weihuang Zhang, Xiaoyu Li, Shujun Wang, Yanse Chen & Huafeng Liu. (2020) Regulation of TFEB activity and its potential as a therapeutic target against kidney diseases. Cell Death Discovery 6:1.
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Tao Zhou, Yunzhe LuChongshen Xu, Rui Wang, Liye ZhangPengfei Lu. (2020) Occludin protects secretory cells from ER stress by facilitating SNARE-dependent apical protein exocytosis. Proceedings of the National Academy of Sciences 117:9, pages 4758-4769.
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Domenico De Rasmo, Anna Signorile, Ester De Leo, Elena V. Polishchuk, Anna Ferretta, Roberto Raso, Silvia Russo, Roman Polishchuk, Francesco Emma & Francesco Bellomo. (2019) Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis. International Journal of Molecular Sciences 21:1, pages 192.
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Tatiana Lobry, Roy Miller, Nathalie Nevo, Celine J. Rocca, Jinzhong Zhang, Sergio D. Catz, Fiona Moore, Lucie Thomas, Daniel Pouly, Anne Bailleux, Ida Chiara Guerrera, Marie-Claire Gubler, Wai W. Cheung, Robert H. Mak, Tristan Montier, Corinne Antignac & Stephanie Cherqui. (2019) Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. Kidney International 96:2, pages 350-362.
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Duarte Mateus, Elettra Sara Marini, Cinzia Progida & Oddmund Bakke. (2018) Rab7a modulates ER stress and ER morphology. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1865:5, pages 781-793.
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Macarena Cabrera-Serrano, Reimar C. Junckerstorff, Ali Alisheri, Alan Pestronk, Nigel G. Laing, Conrad C. Weihl & Phillipa J. Lamont. (2017) Cystinosis distal myopathy, novel clinical, pathological and genetic features. Neuromuscular Disorders 27:9, pages 873-878.
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Mohamed A. Elmonem, Ramzi Khalil, Ladan Khodaparast, Laleh Khodaparast, Fanny O. Arcolino, Joseph Morgan, Anna Pastore, Przemko Tylzanowski, Annelii Ny, Martin Lowe, Peter A. de Witte, Hans J. Baelde, Lambertus P. van den Heuvel & Elena Levtchenko. (2017) Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. Scientific Reports 7:1.
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Jennifer L. Johnson, Mahalakshmi Ramadass, Jing He, Steven J. Brown, Jinzhong Zhang, Lusine Abgaryan, Nikolaos Biris, Evripidis Gavathiotis, Hugh Rosen & Sergio D. Catz. (2016) Identification of Neutrophil Exocytosis Inhibitors (Nexinhibs), Small Molecule Inhibitors of Neutrophil Exocytosis and Inflammation. Journal of Biological Chemistry 291:50, pages 25965-25982.
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Rodolfo Sumayao, Bernadette McEvoy, Philip Newsholme & Tara McMorrow. (2016) Lysosomal cystine accumulation promotes mitochondrial depolarization and induction of redox-sensitive genes in human kidney proximal tubular cells. The Journal of Physiology 594:12, pages 3353-3370.
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