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 is characterized by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous with lung and immunological complications that are not explainable by the CAA transport defect. With the exception of the Finnish founder mutation (c.895-2A > T, LPI_Fin), LPI-causative mutations are heterogeneous and genotype-phenotype correlations have not been found. Here we addressed system y⁺L-mediated arginine uptake in monocytes from three LPI Italian p

SUBMITTER: Rotoli BM 

PROVIDER: S-EPMC6399926 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature