Analysis of LPI-causing mutations on y+LAT1 function and localization

Analysis of LPI-causing mutations on y+LAT1 function and localization

Abstract Background y+LAT1, encoded by SCL7A7, is the protein mutated in Lysinuric Protein Intolerance (LPI), a rare metabolic disease caused by a defective cationic amino acid (CAA, arginine, lysine, ornithine) transport at the basolateral membrane of intestinal and renal tubular cells. The disease...

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Bibliographic Details
Main Authors: Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici, Valeria Dall’Asta
Format: Article
Language:English
Published: BMC 2019-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
eGFP fusion proteins
Arginine transport
Subcellular protein localization
y+L transport system
Site-directed mutagenesis
Online Access:http://link.springer.com/article/10.1186/s13023-019-1028-2

Internet

http://link.springer.com/article/10.1186/s13023-019-1028-2

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