Oh cystinosin: let me count the ways!

Craig B. Langman*

*Corresponding author for this work

Research output: Contribution to journalComment/debatepeer-review

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)275-277
Number of pages3
JournalKidney international
Volume96
Issue number2
DOIs
StatePublished - Aug 2019

ASJC Scopus subject areas

  • Nephrology

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