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

Deletions or inactivating mutations of the cystinosin gene 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 Fanconi syndrome. Early use of oral cysteamine to prevent cystine accumu...

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Veröffentlicht in:	Journal of the American Society of Nephrology 2019-11, Vol.30 (11), p.2177-2190
Hauptverfasser:	Janssens, Virginie, Gaide Chevronnay, Héloïse P, Marie, Sandrine, Vincent, Marie-Françoise, Van Der Smissen, Patrick, Nevo, Nathalie, Vainio, Seppo, Nielsen, Rikke, Christensen, Erik I, Jouret, François, Antignac, Corinne, Pierreux, Christophe E, Courtoy, Pierre J
Format:	Artikel
Sprache:	eng
Schlagworte:	Basic Research cystinosis endocytosis Human health sciences megalin pathophysiology renal proximal tubule cell Sciences de la santé humaine Urologie & néphrologie Urology & nephrology
Online-Zugang:	Volltext
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