183 related articles for article (PubMed ID: 6711558)
1. Lysosomal cystine counter-transport in heterozygotes for cystinosis.
Gahl WA; Bashan N; Tietze F; Schulman JD
Am J Hum Genet; 1984 Mar; 36(2):277-82. PubMed ID: 6711558
[TBL] [Abstract][Full Text] [Related]
2. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.
Gahl WA; Bashan N; Tietze F; Bernardini I; Schulman JD
Science; 1982 Sep; 217(4566):1263-5. PubMed ID: 7112129
[TBL] [Abstract][Full Text] [Related]
3. Lysosomal cystine transport in cystinosis variants and their parents.
Gahl WA; Tietze F
Pediatr Res; 1987 Feb; 21(2):193-6. PubMed ID: 3822600
[TBL] [Abstract][Full Text] [Related]
4. An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes.
Smolin LA; Clark KF; Schneider JA
Am J Hum Genet; 1987 Aug; 41(2):266-75. PubMed ID: 3618595
[TBL] [Abstract][Full Text] [Related]
5. Cystinosis phenotypes have identical defective cystine clearance pattern.
Steinherz R; Makov N; Kohn G; Rachmel A
Biomed Pharmacother; 1987; 41(9-10):473-7. PubMed ID: 3452423
[TBL] [Abstract][Full Text] [Related]
6. Biochemical phenotyping of a single sibship with both cystinosis and Fabry disease.
Gahl WA; Adamson M; Kaiser-Kupfer I; Ludwig IH; O'Connell HJ; Cohen W; Barranger J
J Inherit Metab Dis; 1985; 8(3):127-31. PubMed ID: 3027448
[TBL] [Abstract][Full Text] [Related]
7. Cystine accumulation and loss in normal, heterozygous, and cystinotic fibroblasts.
Jonas AJ; Greene AA; Smith ML; Schneider JA
Proc Natl Acad Sci U S A; 1982 Jul; 79(14):4442-5. PubMed ID: 6956872
[TBL] [Abstract][Full Text] [Related]
8. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.
Kalatzis V; Cherqui S; Antignac C; Gasnier B
EMBO J; 2001 Nov; 20(21):5940-9. PubMed ID: 11689434
[TBL] [Abstract][Full Text] [Related]
9. Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.
Johnson JL; Napolitano G; Monfregola J; Rocca CJ; Cherqui S; Catz SD
Mol Cell Biol; 2013 Aug; 33(15):2950-62. PubMed ID: 23716592
[TBL] [Abstract][Full Text] [Related]
10. Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes.
Gahl WA; Tietze F; Bashan N; Steinherz R; Schulman JD
J Biol Chem; 1982 Aug; 257(16):9570-5. PubMed ID: 7107582
[No Abstract] [Full Text] [Related]
11. The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.
Wilmer MJ; Emma F; Levtchenko EN
Am J Physiol Renal Physiol; 2010 Nov; 299(5):F905-16. PubMed ID: 20826575
[TBL] [Abstract][Full Text] [Related]
12. Lysosomal cystine storage in cystinosis and mucolipidosis type II.
Greene AA; Jonas AJ; Harms E; Smith ML; Pellett OL; Bump EA; Miller AL; Schneider JA
Pediatr Res; 1985 Nov; 19(11):1170-4. PubMed ID: 4069825
[TBL] [Abstract][Full Text] [Related]
13. ATP-dependent lysosomal cystine efflux is defective in cystinosis.
Jonas AJ; Smith ML; Schneider JA
J Biol Chem; 1982 Nov; 257(22):13185-8. PubMed ID: 6292178
[TBL] [Abstract][Full Text] [Related]
14. Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis.
Thoene JG
Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):8-9. PubMed ID: 15719032
[TBL] [Abstract][Full Text] [Related]
15. [Cystinosis and Salla disease].
Narisawa K
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):839-42. PubMed ID: 3270900
[No Abstract] [Full Text] [Related]
16. Disorders of lysosomal membrane transport--cystinosis and Salla disease.
Gahl WA
Enzyme; 1987; 38(1-4):154-60. PubMed ID: 3326729
[TBL] [Abstract][Full Text] [Related]
17. Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis.
Napolitano G; Johnson JL; He J; Rocca CJ; Monfregola J; Pestonjamasp K; Cherqui S; Catz SD
EMBO Mol Med; 2015 Feb; 7(2):158-74. PubMed ID: 25586965
[TBL] [Abstract][Full Text] [Related]
18. Cystine dimethylester model of cystinosis: still reliable?
Wilmer MJ; Willems PH; Verkaart S; Visch HJ; de Graaf-Hess A; Blom HJ; Monnens LA; van den Heuvel LP; Levtchenko EN
Pediatr Res; 2007 Aug; 62(2):151-5. PubMed ID: 17597653
[TBL] [Abstract][Full Text] [Related]
19. Cystine exodus from lysosomes: cystinosis.
Smith ML; Greene AA; Schneider JA; Pisoni RL; Christensen HN
Methods Enzymol; 1989; 174():154-62. PubMed ID: 2698986
[No Abstract] [Full Text] [Related]
20. Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells.
Rega LR; Polishchuk E; Montefusco S; Napolitano G; Tozzi G; Zhang J; Bellomo F; Taranta A; Pastore A; Polishchuk R; Piemonte F; Medina DL; Catz SD; Ballabio A; Emma F
Kidney Int; 2016 Apr; 89(4):862-73. PubMed ID: 26994576
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
