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Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
Stäubli A, Capatina N, Fuhrer Y, Munier FL, Labs S, Schorderet DF, Tiwari A, Verrey F, Heon E, Cheng CY, Wong TY, Berger W, Camargo SMR, Kloeckener-Gruissem B. Stäubli A, et al. Among authors: camargo smr. Hum Mol Genet. 2017 Nov 1;26(21):4203-4214. doi: 10.1093/hmg/ddx310. Hum Mol Genet. 2017. PMID: 29088427 Free article.
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.
Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, Moore AT, Yanes Ó, Nunes V, Palacín M, Verrey F, Kloeckener-Gruissem B. Knöpfel EB, et al. Among authors: camargo smr. Front Physiol. 2019 Jun 4;10:688. doi: 10.3389/fphys.2019.00688. eCollection 2019. Front Physiol. 2019. PMID: 31231240 Free PMC article.
Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3.
Singer D, Camargo SM, Huggel K, Romeo E, Danilczyk U, Kuba K, Chesnov S, Caron MG, Penninger JM, Verrey F. Singer D, et al. J Biol Chem. 2009 Jul 24;284(30):19953-60. doi: 10.1074/jbc.M109.011171. Epub 2009 May 28. J Biol Chem. 2009. PMID: 19478081 Free PMC article.
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