Article
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.
Molecular genetics and metabolism - 1 Apr 2012
Barilli Amelia, Rotoli Bianca Maria, Visigalli Rossana, Bussolati Ovidio, Gazzola Gian C, Gatti Rita, Dionisi-Vici Carlo, Martinelli Diego, Goffredo Bianca M, Font-Llitjós Mariona, Mariani Francesca, Luisetti Maurizio, Dall'Asta Valeria
Abstract excerpt
Lysinuric Protein Intolerance (LPI, MIM 222700) is a recessive aminoaciduria caused by defective cationic amino acid transport in epithelial cells of intestine and kidney. SLC7A7, the gene mutated in LPI, codifies for the y+LAT1 subunit of system y(+)L amino acid transporter. LPI patients frequen...
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