| L-type amino acid transporter 1 is associated with chemoresistance in breast cancer via the promotion of amino acid metabolism. | L-type amino acid transporter 1 is associated with chemoresistance in breast cancer via the promotion of amino acid metabolism.
Sato M, Harada-Shoji N, Toyohara T, Soga T, Itoh M, Miyashita M, Tada H, Amari M, Anzai N, Furumoto S, Abe T, Suzuki T, Ishida T, Sasano H., Free PMC Article | 08/28/2021 |
| A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. | A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
Stroup BM, Marom R, Li X, Hsu CW, Chang CY, Truong LD, Dawson B, Grafe I, Chen Y, Jiang MM, Lanza D, Green JR, Sun Q, Barrish JP, Ani S, Christiansen AE, Seavitt JR, Dickinson ME, Kheradmand F, Heaney JD, Lee B, Burrage LC., Free PMC Article | 08/21/2021 |
| y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance. | y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
Rotoli BM, Barilli A, Visigalli R, Ferrari F, Dall'Asta V., Free PMC Article | 05/8/2021 |
| The three mutations studied of y+LAT1 transporter result in a defective arginine transport both in ex vivo (monocytes) and in vitro (CHO transfected cells) models, likely caused by the retention of the mutated proteins in the cytosol | Analysis of LPI-causing mutations on y+LAT1 function and localization.
Rotoli BM, Barilli A, Ingoglia F, Visigalli R, Bianchi MG, Ferrari F, Martinelli D, Dionisi-Vici C, Dall'Asta V., Free PMC Article | 10/5/2019 |
| SLC7A7 gene detection showed three pathogenic mutations in these children, namely c.1387delG(p.V463CfsX56), c.1215G>A(p.W405X) and homozygous c.625+1G>A | [Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
Cui D, Hu YH, Tang G, Shen D, Chen L, Liao JX, Chen SL., Free PMC Article | 04/27/2019 |
| this study shows that downregulation of SLC7A7 triggers an inflammatory phenotype in human macrophages and airway epithelial cells | Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells.
Rotoli BM, Barilli A, Visigalli R, Ingoglia F, Milioli M, Di Lascia M, Riccardi B, Puccini P, Dall'Asta V., Free PMC Article | 04/13/2019 |
| SLC7A7 overexpression decreased the apoptosis rate, increased the proportion of cells in the G1 phase, decreased the proportion of G2 cells, and significantly increased cell migration and invasion and increased intracellular arginine would activate mTOR, and induce apoptosis in SLC7A7 knockdown Jurkat cells. | Function of SLC7A7 in T-Cell Acute Lymphoblastic Leukemia.
Ji X, Yang X, Wang N, Kang M, Wang Y, Rong L, Fang Y, Xue Y. | 09/22/2018 |
| Confirmed by mRNA and protein expression, the amino acid transporters SLC7A7 and SLC38A5 showed marked differences between controls and intrauterine growth restriction/pre-eclampsia and were regulated by both diseases. In contrast, ABCA1 may play an exclusive role in the development of pre-eclempsia. | Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia.
Huang X, Anderle P, Hostettler L, Baumann MU, Surbek DV, Ontsouka EC, Albrecht C., Free PMC Article | 09/1/2018 |
| At present, 51 kinds of SLC7A7 gene mutations causing lysinuric protein intolerance have been found worldwide, including insert (C.1384-1385 ins ACTA), delete (C.1185-1188 del TTCT) and point mutations (P.R410X, P.Y457X, P.R 468X, P.L124p, etc).3, 4 In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: C.1387 del C and IVS4+1C>T, which has never been reported worldwide. | New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
Zhang G, Cao L., Free PMC Article | 04/21/2018 |
| The study reports a significant association between SLC7A7 rs12436190 and the risk of glioma in a Chinese population. | Association of three common single nucleotide polymorphisms of SLC7A7 with the development of glioma in a Chinese population.
Zhang H, Shi WJ. | 09/16/2017 |
| the 1471 delTTCT mutation was identified in exon 9 in the homozygous state for all Tunisian patients with lysinuric protein Intolerance; The 1471 deITTCT mutation seems to be a common mutation of Tunisian population | 1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance.
Esseghir N, Bouchlaka CS, Fredj SH, Ben Chehida A, Azzouz H, Fontaine M, Tebib N, Briand G, Messaoud T, Elgaaied AB, Kaabachi N. | 05/14/2016 |
| heteromerization of y+LAT1 and 4F2hc within the cell is not disrupted by any of the tested LPI mutations | Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations.
Toivonen M, Tringham M, Kurko J, Terho P, Simell O, Heiskanen KM, Mykkänen J. | 03/29/2014 |
| SLC7A7 genetic variants are associated with increase risk for glioma in a Chinese population. | Genetic variants in SLC7A7 are associated with risk of glioma in a Chinese population.
Fan S, Zhao Y, Li X, Du Y, Wang J, Song X, Zhou F, Chen H, Chen G, Zhao Y, Mao Y, Lan Q. | 11/23/2013 |
| SLC7A7 plays a critical role in glioblastoma carcinogenesis and overexpression of SLC7A7 is correlated with worse outcomes in patients | Overexpression of SLC7A7 predicts poor progression-free and overall survival in patients with glioblastoma.
Fan S, Meng D, Xu T, Chen Y, Wang J, Li X, Chen H, Lu D, Chen J, Lan Q. | 09/21/2013 |
| SLC7A7/y+LAT1 mutations lead to a defective phenotype of macrophages resulting in lysinuric Protein Intolerance. | Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.
Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Gatti R, Dionisi-Vici C, Martinelli D, Goffredo BM, Font-Llitjós M, Mariani F, Luisetti M, Dall'Asta V. | 07/21/2012 |
| during differentiation of human monocytes from peripheral blood, SLC7A7 mRNA and system y(+)L activity are increased | Arginine transport in human monocytic leukemia THP-1 cells during macrophage differentiation.
Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Dall'Asta V. | 10/15/2011 |
| results suggest genomic rearrangement of SLC7A7 play more important role in lysinuric protein intolerance than has been reported; 3' region AluY repeat could be a recombination hot spot as it is involved in 38% of SLC7A7 rearranged chromosomes described | Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Font-Llitjós M, Rodríguez-Santiago B, Espino M, Sillué R, Mañas S, Gómez L, Pérez-Jurado LA, Palacín M, Nunes V., Free PMC Article | 01/21/2010 |
| A review of the current knowledge of SLC7A7 mutations and their role in LPI pathogenesis. | Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Sperandeo MP, Andria G, Sebastio G. | 01/21/2010 |
| Mutation in the SLC7A7 gene is associated with lysinuric protein intolerance | First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.
Cimbalistiene L, Lehnert W, Huoponen K, Kucinskas V. | 01/21/2010 |
| expression levels and putative 5' promoter elements of the SLC7A7 gene | Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).
Mykkänen J, Toivonen M, Kleemola M, Savontaus ML, Simell O, Aula P, Huoponen K. | 01/21/2010 |
| novel SLC7A7 mutations in patients with lysinuric protein intolerance | Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G. | 01/21/2010 |
| mutations of the SLC7A7 gene may have a role in lysinuric protein intolerance | Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G. | 01/21/2010 |
| 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 may have a role in the pathogenesis of lysinuric protein intolerance | A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
Sperandeo MP, Paladino S, Maiuri L, Maroupulos GD, Zurzolo C, Taglialatela M, Andria G, Sebastio G. | 01/21/2010 |
| identified a novel alternative, TATA-box-containing promoter that plays a role in the tissue-specific regulation of SLC7A7 gene expression | Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.
Puomila K, Simell O, Huoponen K, Mykkänen J. | 01/21/2010 |