Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.

Nephropathic cystinosis is a lysosomal storage disorder caused by mutations in the CTNS gene encoding cystine transporter cystinosin that results in accumulation of amino acid cystine in the lysosomes throughout the body and especially affects kidneys. Early manifestations of the disease include ren...

全面介紹

書目詳細資料

Principais autores:	Ekaterina A Ivanova, Maria Giovanna De Leo, Lambertus Van Den Heuvel, Anna Pastore, Henry Dijkman, Maria Antonietta De Matteis, Elena N Levtchenko
格式:	Artigo
語言:	Inglês
出版:	Public Library of Science (PLoS) 2015-01-01
叢編:	PLoS ONE
在線閱讀:	https://doi.org/10.1371/journal.pone.0120998
標簽:	添加標簽 沒有標簽, 成為第一個標記此記錄!