Amino acids are essential building blocks of all mammalian cells. In addition to their role in protein synthesis, amino acids play an important role as energy fuels, precursors for a variety of metabolites and as signalling molecules. Disorders associated with the malfunction of amino acid transporters reflect the variety of roles that they fulfil in human physiology. Mutations of brain amino acid transporters affect neuronal excitability. Mutations of renal and intestinal amino acid transporters affect whole-body homoeostasis, resulting in malabsorption and renal problems. Amino acid transporters that are integral parts of metabolic pathways reduce the function of these pathways. Finally, amino acid uptake is essential for cell growth, thereby explaining their role in tumour progression. The present review summarizes the involvement of amino acid transporters in these roles as illustrated by diseases resulting from transporter malfunction.
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Review Article| May 13 2011
The role of amino acid transporters in inherited and acquired diseases
Manuel Palacín 1
†Institute for Research in Biomedicine (IRB Barcelona), Department of Biochemistry and Molecular Biology, University of Barcelona, 08028 Barcelona, Spain
‡Centre for Biomedical Network Research on Rare Diseases (CIBERER), U731, 08028 Barcelona, Spain
1Correspondence may be addressed to either author (email firstname.lastname@example.org or email@example.com).
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Stefan Bröer, Manuel Palacín; The role of amino acid transporters in inherited and acquired diseases. Biochem J 1 June 2011; 436 (2): 193–211. doi: https://doi.org/10.1042/BJ20101912
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