Affiliation:
1. School of Biochemistry and Molecular Biology, Australian National University, Canberra, Australia,
Abstract
Absorption of amino acids in kidney and intestine involves a variety of transporters for different groups of amino acids. This is illustrated by inherited disorders of amino acid absorption, such as Hartnup disorder, cystinuria, iminoglycinuria, dicarboxylic aminoaciduria, and lysinuric protein intolerance, affecting separate groups of amino acids. Recent advances in the molecular identification of apical neutral amino acid transporters has shed a light on the molecular basis of Hartnup disorder and iminoglycinuria.
Publisher
American Physiological Society
Reference79 articles.
1. H+/amino acid transporter 1 (PAT1) is the imino acid carrier: An intestinal nutrient/drug transporter in human and rat
2. Newborn urine screening programme in the province of Quebec: An update of 30 years' experience
3. Azmanov DN, Kowalczuk S, Rodgers H, Auray-Blais C, Giguere R, Rasko JE, Broer S, Cavanaugh J. Further evidence for allelic heterogeneity in Hartnup disorder.Hum Mutat. In press.
4. Persistence of the Common Hartnup Disease D173N Allele in Populations of European Origin
5. Baron DN, Dent CE, Harris H, Hart EW, Jepson JB. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal aminoaciduria and other bizarre biochemical features.Lancet2: 421–428, 1956.
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79 articles.
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