胱氨酸病杂合子中的溶酶体胱氨酸逆向转运
Lysosomal cystine counter-transport in heterozygotes for cystinosis.
作者信息
Gahl W A, Bashan N, Tietze F, Schulman J D
出版信息
Am J Hum Genet. 1984 Mar;36(2):277-82.
Abstract
Heterozygotes for cystinosis exhibited approximately half the normal rate of cystine counter-transport into isolated leukocyte lysosomes. This gene-dosage effect strongly supports previous findings demonstrating that the basic defect in cystinosis is impaired cystine transport across the lysosomal membrane. The method was used to determine the cystinosis carrier status for siblings of affected children in two families with cystinosis.
摘要
胱氨酸贮积症杂合子表现出进入分离的白细胞溶酶体的胱氨酸逆向转运速率约为正常速率的一半。这种基因剂量效应有力地支持了先前的研究结果，即胱氨酸贮积症的基本缺陷是胱氨酸跨溶酶体膜的转运受损。该方法用于确定两个患有胱氨酸贮积症家庭中患病儿童兄弟姐妹的胱氨酸贮积症携带者状态。
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本文引用的文献
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Increased free-cystine content of fibroblasts cultured from patients with cystinosis.胱氨酸病患者培养的成纤维细胞中游离胱氨酸含量增加。
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Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.胱氨酸病患者分离出的白细胞溶酶体中胱氨酸转运存在缺陷。
Science. 1982 Sep 24;217(4566):1263-5. doi: 10.1126/science.7112129.
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Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes.胱氨酸病白细胞中富含溶酶体的分离组分的胱氨酸外排缺陷。
J Biol Chem. 1982 Aug 25;257(16):9570-5.
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Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester.
N Engl J Med. 1982 Jun 17;306(24):1468-70. doi: 10.1056/NEJM198206173062407.
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Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester.正常白细胞和胱氨酸病白细胞对胱氨酸二甲酯的胱氨酸积累及清除情况
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