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

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 Fanconi syndrome. Early use of oral cysteamine to preve...

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Vydáno v:J Am Soc Nephrol
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2019
Témata:
Basic Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6830792/
https://ncbi.nlm.nih.gov/pubmed/31548351
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2019040371
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