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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:J Am Soc Nephrol
Main Authors: 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: Artigo
Jezik:Inglês
Izdano: American Society of Nephrology 2019
Teme:
Basic Research
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki