Cystinosin
Definition:
References:
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[1]. Christine Chiaverini, et al. Cystinosin is a melanosomal protein that regulates melanin synthesis. FASEB J. 2012 Sep;26(9):3779-89. [Content Brief]
[2]. Charles H Adelmann, et al. MFSD12 mediates the import of cysteine into melanosomes and lysosomes. Nature. 2020 Dec;588(7839):699-704. [Content Brief]
[3]. Anna Taranta, et al. Identification and subcellular localization of a new cystinosin isoform. Am J Physiol Renal Physiol. 2008 May;294(5):F1101-8. [Content Brief]
[4]. Anup Arunrao Deshpande, et al. A Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin. Sci Rep. 2018 Feb 21;8(1):3442. [Content Brief]
[5]. V Kalatzis, et al. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J. 2001 Nov 1;20(21):5940-9. [Content Brief]
[6]. Raquel Ruivo, et al. Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin. Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):E210-7. [Content Brief]
[7]. Vasiliki Kalatzis, et al. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum Mol Genet. 2004 Jul 1;13(13):1361-71. [Content Brief]
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