Associated Papers
Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies.
Gopalakrishnan C et al.
Journal of Cellular Biochemistry, 2019
Analysis of LPI-causing mutations on y+LAT1 function and localization.
Rotoli BM et al.
Orphanet Journal of Rare Diseases, 2019
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.
Barilli A et al.
Molecular Genetics and Metabolism, 2012
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.
Barilli A et al.
Orphanet Journal of Rare Diseases, 2010
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
Sperandeo MP et al.
Human Mutation, 2005
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