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Results: 10

1.

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.

Jézégou A, Llinares E, Anne C, Kieffer-Jaquinod S, O'Regan S, Aupetit J, Chabli A, Sagné C, Debacker C, Chadefaux-Vekemans B, Journet A, André B, Gasnier B.

Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):E3434-43. doi: 10.1073/pnas.1211198109. Epub 2012 Nov 20. Erratum in: Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3197.

PMID:
23169667
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

[From gene to disease: cystinosis].

Levtchenko EN, Wilmer M, de Graaf-Hess AC, van den Heuvel LP, Blom H, Monnens LA.

Ned Tijdschr Geneeskd. 2004 Mar 6;148(10):476-8. Review. Dutch.

PMID:
15042893
[PubMed - indexed for MEDLINE]
3.

Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):100-20. Review.

PMID:
11001803
[PubMed - indexed for MEDLINE]
4.

Update on nephropathic cystinosis.

Schneider JA, Katz B, Melles RB.

Pediatr Nephrol. 1990 Nov;4(6):645-53. Review.

PMID:
2088469
[PubMed - indexed for MEDLINE]
5.

Structure and function of eukaryotic proprotein processing enzymes of the subtilisin family of serine proteases.

Van de Ven WJ, Roebroek AJ, Van Duijnhoven HL.

Crit Rev Oncog. 1993;4(2):115-36. Review.

PMID:
8420571
[PubMed - indexed for MEDLINE]
6.

NIH conference. Cystinosis: progress in a prototypic disease.

Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T.

Ann Intern Med. 1988 Oct 1;109(7):557-69. Review.

PMID:
3048161
[PubMed - indexed for MEDLINE]
7.

Disorders of lysosomal membrane transport--cystinosis and Salla disease.

Gahl WA.

Enzyme. 1987;38(1-4):154-60. Review.

PMID:
3326729
[PubMed - indexed for MEDLINE]
8.

New aspects of the pathogenesis of cystinosis.

Kalatzis V, Antignac C.

Pediatr Nephrol. 2003 Mar;18(3):207-15. Epub 2003 Feb 27. Review.

PMID:
12644911
[PubMed - indexed for MEDLINE]
9.

Early oral cysteamine therapy for nephropathic cystinosis.

Gahl WA.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S38-41. Epub 2003 Nov 11. Review.

PMID:
14610675
[PubMed - indexed for MEDLINE]
10.

Molecular characteristics of mammalian and insect amino acid transporters: implications for amino acid homeostasis.

Castagna M, Shayakul C, Trotti D, Sacchi VF, Harvey WR, Hediger MA.

J Exp Biol. 1997 Jan;200(Pt 2):269-86. Review.

PMID:
9050235
[PubMed - indexed for MEDLINE]
Free Article

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