Inherited epithelial transporter disorders--an overview.

Journal of Inherited Metabolic Disease
M J BergeronM A Hediger

Abstract

In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human genome project. Since then, the role of many transporter genes in human diseases has been elucidated. In this overview, we focus on inherited disorders of epithelial transporters. In particular, we review genetic defects of the genes encoding glucose transporters (SLC2 and SLC5 families) and amino acid transporters (SLC1, SLC3, SLC6 and SLC7 families).

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Citations

Jan 24, 2009·Human Genomics·Lei HeDaniel W Nebert
Dec 3, 2013·Advances in Physiology Education·Kirk L Hamilton, A Grant Butt
Dec 29, 2011·The Journal of Pharmacology and Experimental Therapeutics·Shivangi GuptaYohannes Hagos
Feb 16, 2019·Frontiers in Cell and Developmental Biology·Oluwaseun B Ogunbona, Steven M Claypool

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