164 related articles for article (PubMed ID: 17376816)
1. Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
Sperandeo MP; Annunziata P; Bozzato A; Piccolo P; Maiuri L; D'Armiento M; Ballabio A; Corso G; Andria G; Borsani G; Sebastio G
Am J Physiol Cell Physiol; 2007 Jul; 293(1):C191-8. PubMed ID: 17376816
[TBL] [Abstract][Full Text] [Related]
2. Inducible
Bodoy S; Sotillo F; Espino-Guarch M; Sperandeo MP; Ormazabal A; Zorzano A; Sebastio G; Artuch R; Palacín M
Int J Mol Sci; 2019 Oct; 20(21):. PubMed ID: 31653080
[TBL] [Abstract][Full Text] [Related]
3. 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
J Cell Mol Med; 2020 Jan; 24(1):921-929. PubMed ID: 31705628
[TBL] [Abstract][Full Text] [Related]
4. Clinical and genetic features of lysinuric protein intolerance in Japan.
Noguchi A; Nakamura K; Murayama K; Yamamoto S; Komatsu H; Kizu R; Takayanagi M; Okuyama T; Endo F; Takasago Y; Shoji Y; Takahashi T
Pediatr Int; 2016 Oct; 58(10):979-983. PubMed ID: 26865117
[TBL] [Abstract][Full Text] [Related]
5. 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
Hum Mol Genet; 2020 Aug; 29(13):2171-2184. PubMed ID: 32504080
[TBL] [Abstract][Full Text] [Related]
6. Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
Mykkänen J; Torrents D; Pineda M; Camps M; Yoldi ME; Horelli-Kuitunen N; Huoponen K; Heinonen M; Oksanen J; Simell O; Savontaus ML; Zorzano A; Palacín M; Aula P
Hum Mol Genet; 2000 Feb; 9(3):431-8. PubMed ID: 10655553
[TBL] [Abstract][Full Text] [Related]
7. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
Borsani G; Bassi MT; Sperandeo MP; De Grandi A; Buoninconti A; Riboni M; Manzoni M; Incerti B; Pepe A; Andria G; Ballabio A; Sebastio G
Nat Genet; 1999 Mar; 21(3):297-301. PubMed ID: 10080183
[TBL] [Abstract][Full Text] [Related]
8. Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.
Puomila K; Simell O; Huoponen K; Mykkänen J
Mol Genet Metab; 2007 Mar; 90(3):298-306. PubMed ID: 17196863
[TBL] [Abstract][Full Text] [Related]
9. Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.
Stroup BM; Li X; Ho S; Zhouyao H; Chen Y; Ani S; Dawson B; Jin Z; Marom R; Jiang MM; Lorenzo I; Rosen D; Lanza D; Aceves N; Koh S; Seavitt JR; Heaney JD; Lee B; Burrage LC
Dis Model Mech; 2023 Aug; 16(8):. PubMed ID: 37486182
[TBL] [Abstract][Full Text] [Related]
10. 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
Eur J Hum Genet; 2005 May; 13(5):628-34. PubMed ID: 15756301
[TBL] [Abstract][Full Text] [Related]
11. 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
Mol Genet Metab; 2012 Apr; 105(4):585-9. PubMed ID: 22325938
[TBL] [Abstract][Full Text] [Related]
12. In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.
Barilli A; Rotoli BM; Visigalli R; Bussolati O; Gazzola GC; Kadija Z; Rodi G; Mariani F; Ruzza ML; Luisetti M; Dall'Asta V
Orphanet J Rare Dis; 2010 Nov; 5():32. PubMed ID: 21110863
[TBL] [Abstract][Full Text] [Related]
13. Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Torrents D; Mykkänen J; Pineda M; Feliubadaló L; Estévez R; de Cid R; Sanjurjo P; Zorzano A; Nunes V; Huoponen K; Reinikainen A; Simell O; Savontaus ML; Aula P; Palacín M
Nat Genet; 1999 Mar; 21(3):293-6. PubMed ID: 10080182
[TBL] [Abstract][Full Text] [Related]
14. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Sperandeo MP; Andria G; Sebastio G
Hum Mutat; 2008 Jan; 29(1):14-21. PubMed ID: 17764084
[TBL] [Abstract][Full Text] [Related]
15. Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
Matsukawa Y; Sakamoto K; Ikeda Y; Taga T; Kosaki K; Maruo Y
Int J Hematol; 2022 Oct; 116(4):635-638. PubMed ID: 35532875
[TBL] [Abstract][Full Text] [Related]
16. Lysinuric protein intolerance: one gene, many problems.
Bröer S
Am J Physiol Cell Physiol; 2007 Aug; 293(2):C540-1. PubMed ID: 17475666
[No Abstract] [Full Text] [Related]
17. 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
Orphanet J Rare Dis; 2019 Mar; 14(1):63. PubMed ID: 30832686
[TBL] [Abstract][Full Text] [Related]
18. Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.
IJzermans T; van der Meijden W; Hoeks M; Huigen M; Rennings A; Nijenhuis T
Am J Kidney Dis; 2023 Apr; 81(4):493-496. PubMed ID: 36223829
[TBL] [Abstract][Full Text] [Related]
19. SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.
Noguchi A; Shoji Y; Koizumi A; Takahashi T; Matsumori M; Kayo T; Ohata T; Wada Y; Yoshimura I; Maisawa S; Konishi M; Takasago Y; Takada G
Hum Mutat; 2000; 15(4):367-72. PubMed ID: 10737982
[TBL] [Abstract][Full Text] [Related]
20. 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
Eur J Hum Genet; 2009 Jan; 17(1):71-9. PubMed ID: 18716612
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
