Associated Papers
Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease.
Bodoy S et al.
International Journal of Molecular Sciences, 2019
Analysis of LPI-causing mutations on y+LAT1 function and localization.
Rotoli BM et al.
Orphanet Journal of Rare Diseases, 2019
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI).
Kurko J et al.
Metabolism: Clinical and Experimental, 2016
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.
Nicolas C et al.
Jimd Reports, 2016
Dysfunction in macrophage toll-like receptor signaling caused by an inborn error of cationic amino acid transport.
Kurko J et al.
Molecular Immunology, 2015
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).
Tringham M et al.
Molecular Genetics and Metabolism, 2012
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Font-Llitjós M et al.
European Journal of Human Genetics : Ejhg, 2009
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Sperandeo MP et al.
Human Mutation, 2008
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