Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

Autor: Beatrice Paola Festa, Zhiyong Chen, Marine Berquez, Huguette Debaix, Natsuko Tokonami, Jenny Ann Prange, Glenn van de Hoek, Cremonesi Alessio, Andrea Raimondi, Nathalie Nevo, Rachel H. Giles, Olivier Devuyst, Alessandro Luciani

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)

Nephropathic cystinosis is a lysosomal storage disease characterized by proximal tubular cell dysfunction. Here Festa and colleagues show that these lysosomal alterations lead to defective autophagic clearance of mitochondria and increased oxidative

Externí odkaz: https://doaj.org/article/72c5aea539634421966302e0bad09721

Human Aortic Valve Interstitial Cells Display Proangiogenic Properties During Calcific Aortic Valve Disease

Autor: R. Jashari, Séverine Lecourt, Sophie Susen, Pascale Gaussem, Eric Van Belle, Nicolas Gendron, Bernard Cholley, André Vincentelli, Nathalie Nevo, Elisa Rossi, Richard Chocron, David M. Smadja, Bart Staels, Annabelle Dupont, Salim Idelcadi, Mickael Rosa, Audrey Cras, Ivan Bièche, Jeanne Rancic, Yoann Sottejeau, Thibault Pamart, Yaël Baudouin, Alain Carpentier, Adeline Blandinières

Publikováno v: Arteriosclerosis, Thrombosis, and Vascular Biology.

Objective: The study’s aim was to analyze the capacity of human valve interstitial cells (VICs) to participate in aortic valve angiogenesis. Approach and Results: VICs were isolated from human aortic valves obtained after surgery for calcific aorti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11818907ea133458a95bb7425a1fa1b5
https://doi.org/10.1161/atvbaha.120.314287

Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression

Autor: François Jouret, Pierre J. Courtoy, Virginie Janssens, Corinne Antignac, Seppo Vainio, Christophe E. Pierreux, Rikke Nielsen, Nathalie Nevo, Héloïse P. Gaide Chevronnay, Erik Ilsø Christensen, Sandrine Marie, Marie-Françoise Vincent, Patrick Van Der Smissen

Publikováno v: Janssens, V, Gaide Chevronnay, H P, Marie, S, Vincent, M-F, Van Der Smissen, P, Nevo, N, Vainio, S, Nielsen, R, Christensen, E I, Jouret, F, Antignac, C, Pierreux, C E & Courtoy, P J 2019, ' Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression ', Journal of the American Society of Nephrology : JASN, vol. 30, no. 11, pp. 2177-2190 . https://doi.org/10.1681/ASN.2019040371
J Am Soc Nephrol

BACKGROUND: Deletions or inactivating mutations of the cystinosin gene CTNS lead to cystine accumulation and crystals at acidic pH in patients with nephropathic cystinosis, a rare lysosomal storage disease and the main cause of hereditary renal Fanco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb94f3356386729d3e45a1c5fb101451
https://pure.au.dk/portal/da/publications/protection-of-cystinotic-mice-by-kidneyspecific-megalin-ablation-supports-an-endocytosisbased-mechanism-for-nephropathic-cystinosis-progression(79740452-96a0-430e-9a37-73aa7c55f5a4).html

Intrinsic Bone Defects in Cystinotic Mice

Autor: Nathalie Nevo, Anna Pastore, Giulia Battafarano, Ottavia Porzio, Matteo D'Agostini, Gianna Di Giovamberardino, Andrea Del Fattore, Anna Taranta, Michela Rossi, Laura Rita Rega, Francesco Emma

Publikováno v: The American journal of pathology. 189(5)

Cystinosis is a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding cystinosin, a symporter that mediates cystine efflux from lysosomes. Approximately 95% of patients with cystinosis display renal Fanconi s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a3ed7534972892fdb5be19e189f3c1
https://pubmed.ncbi.nlm.nih.gov/30794806

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis

Autor: Lucie Thomas, Stephanie Cherqui, Fiona Moore, Jinzhong Zhang, Nathalie Nevo, Tatiana Lobry, Roy Miller, Robert H. Mak, Sergio D. Catz, Celine J. Rocca, Marie-Claire Gubler, Ida Chiara Guerrera, Daniel Pouly, Anne Bailleux, Tristan Montier, Wai W. Cheung, Corinne Antignac

Publikováno v: Kidney international. 96(2)

Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β-gala

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a4ef9bb696f75bb9c8141946604d58
https://pubmed.ncbi.nlm.nih.gov/31331465