Article
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.
Human molecular genetics - 1 Nov 2017
Stäubli Andrina, Capatina Nadejda, Fuhrer Yvonne, Munier Francis L, Labs Stephan, Schorderet Daniel F, Tiwari Amit, Verrey Francois, Heon Elise, Cheng Ching-Yu, Wong Tien-Yin, Berger Wolfgang, Camargo Simone M R, Kloeckener-Gruissem Barbara
Abstract excerpt
Membrane transporters influence biological functions in the ocular lens. Here, we investigate the monocarboxylate transporter 12 (MCT12), also called creatine transporter 2 (CRT2), which is found in the ocular lens and is involved in cataract. As the age-related form affects about half of the population world-wide, understanding relevant pathomechanisms is a prerequisite for exploring non-invasive treatments. We...
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