LYSOSOMAL CYSTINE COUNTER-TRANSPORT IN HETEROZYGOTES FOR CYSTINOSIS
- 1 January 1984
- journal article
- research article
- Vol. 36 (2) , 277-282
Abstract
Heterozygotes for cystinosis exhibited approximately half the normal rate of Cys counter-transport into isolated leukocyte lysosomes. This gene-dosage effect strongly supports previous findings demonstrating that the basic defect in cystinosis is impaired Cys transport across the lysosomal membrane. The method was used to determine the cystinosis carrier status for siblings of affected children in 2 families with cystinosis.This publication has 12 references indexed in Scilit:
- Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractionsBiochemical Journal, 1983
- ATP-dependent lysosomal cystine efflux is defective in cystinosis.Journal of Biological Chemistry, 1982
- Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with CystinosisScience, 1982
- Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes.Journal of Biological Chemistry, 1982
- Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester.Proceedings of the National Academy of Sciences, 1982
- Heterozygote Detection in Cystinosis, Using Leukocytes Exposed to Cystine Dimethyl EsterNew England Journal of Medicine, 1982
- Patterns of amino acid efflux from isolated normal and cystinotic human leucocyte lysosomes.Journal of Biological Chemistry, 1982
- Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples.1974
- Increased Cystine in Leukocytes from Individuals Homozygous and Heterozygous for CystinosisScience, 1967
- PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENTJournal of Biological Chemistry, 1951