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

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 is char...

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Detalles Bibliográficos
Autores principales: Rotoli, Bianca Maria, Barilli, Amelia, Ingoglia, Filippo, Visigalli, Rossana, Bianchi, Massimiliano G., Ferrari, Francesca, Martinelli, Diego, Dionisi-Vici, Carlo, Dall’Asta, Valeria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399926/
https://www.ncbi.nlm.nih.gov/pubmed/30832686
http://dx.doi.org/10.1186/s13023-019-1028-2

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