Article
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
American journal of physiology. Cell physiology - 1 Jul 2007
Sperandeo Maria Pia, Annunziata Patrizia, Bozzato Andrea, Piccolo Pasquale, Maiuri Luigi, D'Armiento Maria, Ballabio Andrea, Corso Gaetano, Andria Generoso, Borsani Giuseppe, Sebastio Gianfranco
Abstract excerpt
The solute carrier family 7A member 7 gene (SLC7A7) encodes the light chain of the heterodimeric carrier responsible for cationic amino acid (CAA) transport across the basolateral membranes of epithelial cells in intestine and kidney. Mutations affecting SLC7A7 cause lysinuric protein intolerance (LPI), a multiorgan disorder with clinical symptoms that include visceromegaly, growth retardation, osteoporosis,...
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