Author:
Goodman Spencer,Khan Meisha,Sharma Jay,Li Zijie,Cano Jose,Castellanos Carlos,Estrada Monica V.,Gertsman Ilya,Cherqui Stephanie
Funder
NINDS
Cystinosis Research Foundation
National Institutes of Health
California Institute of Regenerative Medicine
University of California, Davis
NIDDK
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference30 articles.
1. Nephropathic cystinosis: an international consensus document;Emma;Nephrol. Dial. Transplant,2014
2. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter;Kalatzis;EMBO J.,2001
3. Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis;Cherqui;Mol. Cell. Biol.,2002
4. Molecular basis of cystinosis: geographic distribution, functional consequences of mutations in the CTNS gene, and potential for repair;David;Nephron,2019
5. In vivo reflectance confocal microscopy of the skin: a noninvasive means of assessing body cystine accumulation in infantile cystinosis;Chiaverini;J. Am. Acad. Dermatol.,2013
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