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Literature DB >> 7112129

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.

W A Gahl, N Bashan, F Tietze, I Bernardini, J D Schulman.

Abstract

The activity of a cystine transport system in lysosomes prepared from the leukocytes of patients with cystinosis was found to be 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 adenosine triphosphate. The availability of normal and mutant lysosomes provides a means of investigating mechanisms of amino acid transport across lysosomal membranes.

Entities: Chemical Disease Gene Species

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Year: 1982 PMID： 7112129 DOI： 10.1126/science.7112129

Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728

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Cited

86 in total

1. Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.

Authors: Raquel Ruivo; Gian Carlo Bellenchi; Xiong Chen; Giovanni Zifarelli; Corinne Sagné; Cécile Debacker; Michael Pusch; Stéphane Supplisson; Bruno Gasnier
Journal: Proc Natl Acad Sci U S A Date: 2012-01-09 Impact factor: 11.205

2. Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis.

Authors: O L Pellett; M L Smith; A A Greene; J A Schneider
Journal: Proc Natl Acad Sci U S A Date: 1988-05 Impact factor: 11.205

3. Cystine transport in purified rat liver lysosomes.

Authors: A J Jonas
Journal: Biochem J Date: 1986-06-15 Impact factor: 3.857

4. Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.

Authors: C Coor; R F Salmon; R Quigley; D Marver; M Baum
Journal: J Clin Invest Date: 1991-03 Impact factor: 14.808

Review 5. New aspects of the pathogenesis of cystinosis.

Authors: Vasiliki Kalatzis; Corinne Antignac
Journal: Pediatr Nephrol Date: 2003-02-27 Impact factor: 3.714

6. Lysosomal sulfate efflux following glycosaminoglycan degradation: measurements in enzyme-supplemented Maroteaux-Lamy syndrome fibroblasts and isolated lysosomes.

Authors: G S Harper; T Rozaklis; J Bielicki; J J Hopwood
Journal: Glycoconj J Date: 1993-10 Impact factor: 2.916

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.

1. Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.

2. Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis.

3. Cystine transport in purified rat liver lysosomes.

4. Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.

Review 5. New aspects of the pathogenesis of cystinosis.

6. Lysosomal sulfate efflux following glycosaminoglycan degradation: measurements in enzyme-supplemented Maroteaux-Lamy syndrome fibroblasts and isolated lysosomes.

7. Impact of atypical mitochondrial cyclic-AMP level in nephropathic cystinosis.

8. CTNS mutations in an American-based population of cystinosis patients.

9. An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes.

10. High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.