Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis

Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine. The causative gene, CTNS, encodes cystinosin, a seven-transmembrane-domain protein, which we recently showed to be a lysosomal cystine transporter. The most severe and frequent form of cystinosi...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Cherqui, Stéphanie, Sevin, Caroline, Hamard, Ghislaine, Kalatzis, Vasiliki, Sich, Mireille, Pequignot, Marie O., Gogat, Karïn, Abitbol, Marc, Broyer, Michel, Gubler, Marie-Claire, Antignac, Corinne
格式: Artigo
語言:Inglês
出版: American Society for Microbiology 2002
主題:
Mammalian Genetic Models with Minimal or Complex Phenotypes
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC135682/
https://ncbi.nlm.nih.gov/pubmed/12370309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.22.21.7622-7632.2002
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍