|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SLC7A7 mutations cause lysinuric protein intolerance (LPI), an inherited multisystem disease characterized by low plasma levels of arginine and lysine, protein-rich food intolerance, failure to thrive, hepatosplenomegaly, osteoporosis, lung involvement, kidney failure, haematologic and immunological disorders.
|
31705628 |
2020 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, the underlying pathological mechanism is unknown, and, in this analysis, we investigate the impact of point mutation in y+LAT-1's interaction with 4F2 cell-surface antigen heavy chain in causing LPI.
|
31211457 |
2019 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
LPI was diagnosed by the detection of a homozygous mutation of c.713 C>T (p.Ser238Phe) in SLC7A7, which was eventually found to co-occur with UPD14mat.
|
31427715 |
2019 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
LPI is associated with autosomal recessive inheritance and pathological variants in the responsible gene SLC7A7 are also observed.
|
31213652 |
2019 |
|
Lysinuric Protein Intolerance
|
0.800 |
Biomarker
|
disease |
BEFREE |
The different effect of y+LAT1 mutation on arginine transport in monocytes and lymphoblasts is supposed to be due to the different expression of SLC7A7 mRNA in the two models, supporting the hypothesis that the impact of LPI defect largely depends on the relative abundance of LPI target gene in each cell type.
|
30832686 |
2019 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lysinuric protein intolerance (LPI) is a recessively inherited aminoaciduria caused by mutations of SLC7A7, the gene encoding y+LAT1 light chain of system y<sup>+</sup>L for cationic amino acid transport.
|
29616026 |
2018 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter.
|
28087478 |
2017 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
|
29058386 |
2017 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y<sup>+</sup>LAT1.
|
28057010 |
2017 |
|
Lysinuric Protein Intolerance
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Lysinuric Protein Intolerance
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Lung involvement in children with lysinuric protein intolerance.
|
25335805 |
2015 |
|
Lysinuric Protein Intolerance
|
0.800 |
Biomarker
|
disease |
BEFREE |
In the present study, genomic structure of SLC7A7 in six Turkish patients with lysinuric protein intolerance was examined in order to detect disease causing mutations by denaturing high pressure liquid chromatography and direct sequencing.
|
23542076 |
2013 |
|
Lysinuric Protein Intolerance
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In addition, the expression rate of the LPI mutant y+LAT1 proteins was significantly lower and cellular mortality was markedly increased than that of the wild type y+LAT1 in transfected samples.
|
23940088 |
2013 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis.
|
22876067 |
2012 |
|
Lysinuric Protein Intolerance
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We conclude that changes in the expression of genes other than SLC7A7 may be linked to the various symptoms of LPI, indicating a complex interplay between amino acid transporters and various cellular processes.
|
22221392 |
2012 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lysinuric protein intolerance (LPI) is an inherited defect of cationic amino acid (lysine, arginine and ornithine) transport at the basolateral membrane of intestinal and renal tubular cells caused by mutations in SLC7A7 encoding the y(+)LAT1 protein.
|
22402328 |
2012 |
|
Lysinuric Protein Intolerance
|
0.800 |
Biomarker
|
disease |
BEFREE |
The present study investigates for the first time the expression and function of y+LAT1 in monocytes and macrophages isolated from a patient affected by LPI-associated PAP.
|
21110863 |
2010 |
|
Lysinuric Protein Intolerance
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results suggest that genomic rearrangements of SLC7A7 play a more important role in LPI than has been reported, increasing the detection rate from 5.1 to 21.4%.
|
18716612 |
2009 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this review, we summarize the current knowledge of SLC7A7 mutations and their role in LPI pathogenesis.
|
17764084 |
2008 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
LPI is caused by mutations in the SLC7A7 gene, which encodes the y(+)LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family.
|
17764084 |
2008 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The results of the present study provide further insight into the molecular pathogenesis of LPI: a putative multiheteromeric structure of both [4F2hc/y(+)LAT-1] and [4F2hc/y(+)LAT-2], and the interference between y(+)LAT-1 and y(+)LAT-2 proteins.
|
15756301 |
2005 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in system b(0,+) (rBAT-b(0,+)AT) and in system y(+)L (4F2hc-y(+)LAT1) cause the primary inherited aminoacidurias (PIAs) cystinuria and lysinuric protein intolerance, respectively.
|
15772300 |
2005 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
|
15756301 |
2005 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We performed the mutation analysis in seven probands from five unrelated LPI families and identified five novel SLC7A7 mutations (p.M50K, p.T188I, p.R333M, p.Y457X, and c.499+?_629-?).
|
15776427 |
2005 |
|
Lysinuric Protein Intolerance
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Lysinuric protein intolerance (LPI) is a disorder of dibasic amino acid transport secondary to mutation of the SLC7A7 gene characterized by renal failure, pulmonary alveolar proteinosis, lupus-like autoimmune symptoms and usually increased plasma citrulline.
|
15877200 |
2005 |