Oh cystinosin: let me count the ways
Nephropathic cystinosis is the most common genetic cause of a renal Fanconi syndrome and results from dysfunction of the lysosomal cystine-transporter protein cystinosin. The multiple organ dysfunctions of affected patients were thought to be related to the defective protein, with cystine crystal fo...
Gespeichert in:
Veröffentlicht in: | Kidney international 2019-08, Vol.96 (2), p.275-277 |
---|---|
1. Verfasser: | |
Format: | Artikel |
Sprache: | eng |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Zusammenfassung: | Nephropathic cystinosis is the most common genetic cause of a renal Fanconi syndrome and results from dysfunction of the lysosomal cystine-transporter protein cystinosin. The multiple organ dysfunctions of affected patients were thought to be related to the defective protein, with cystine crystal formation. However, such crystals were not always present when looked for. More recently, study of the biology of cystinosis has expanded to include many other cellular processes that may be pathogenic in the disease, and now galectin-3 can be added to those identified. |
---|---|
ISSN: | 0085-2538 1523-1755 |
DOI: | 10.1016/j.kint.2019.05.016 |