Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of
CTNS
lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. Kidneys are initially affected with gen...
Alternative Titles
Full title
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5309805
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5309805
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/srep42583
