CYSTINE TRANSPORT IS DEFECTIVE IN ISOLATED LEUKOCYTE LYSOSOMES FROM PATIENTS WITH CYSTINOSIS
CYSTINE TRANSPORT IS DEFECTIVE IN ISOLATED LEUKOCYTE LYSOSOMES FROM PATIENTS WITH CYSTINOSIS
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DOI：
10.1126/science.7112129
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发表时间：
1982-01-01
期刊：
影响因子：
56.9
通讯作者：
SCHULMAN, JD
中科院分区：
文献类型：
--
作者：
GAHL, WA;BASHAN, N;SCHULMAN, JD
从胱氨酸病患者的白细胞中制备的溶酶体中的胱氨酸转运系统的活性不足。在正常受试者中，该系统对N-乙基马来酰亚胺具有抗性，并表现出饱和动力学。来自胱氨酸病杂合子个体的溶酶体显示，胱氨酸从溶酶体中排出的最大速度减慢。ATP可增加正常溶酶体对胱氨酸的逃逸速率。正常和突变溶酶体的可用性为研究氨基酸跨溶酶体膜转运的机制提供了一种手段。
The activity of a cystine transport system in lysosomes prepared from the leukocytes of patients with cystinosis was deficient. In normal subjects, this system was resistant to N-ethylmaleimide and demonstrated saturation kinetics. Lysosomes from individuals heterozygous for cystinosis demonstrated a reduced maximum velocity for cystine egress from lysosomes. The rate of cystine escape from normal lysosomes was enhanced by ATP. The availability of normal and mutant lysosomes provides a means of investigating mechanisms of amino acid transport across lysosomal membranes.