| Literature DB >> 31331465 |
Abstract
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.Entities:
Year: 2019 PMID: 31331465 DOI: 10.1016/j.kint.2019.05.016
Source DB: PubMed Journal: Kidney Int ISSN: 0085-2538 Impact factor: 10.612