214 related articles for article (PubMed ID: 31653080)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Mauhin W; Habarou F; Gobin S; Servais A; Brassier A; Grisel C; Roda C; Pinto G; Moshous D; Ghalim F; Krug P; Deltour N; Pontoizeau C; Dubois S; Assoun M; Galmiche L; Bonnefont JP; Ottolenghi C; de Blic J; Arnoux JB; de Lonlay P
Orphanet J Rare Dis; 2017 Jan; 12(1):3. PubMed ID: 28057010
[TBL] [Abstract][Full Text] [Related]
7. Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
Sebastio G; Sperandeo MP; Andria G
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):54-62. PubMed ID: 21308987
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
Kang E; Kim T; Oh A; Yum MS; Keum C; Yoo HW; Lee BH
J Hum Genet; 2019 Nov; 64(11):1137-1140. PubMed ID: 31427715
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A; Takahashi T
J Hum Genet; 2019 Sep; 64(9):849-858. PubMed ID: 31213652
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Dysfunction in macrophage toll-like receptor signaling caused by an inborn error of cationic amino acid transport.
Kurko J; Vähä-Mäkilä M; Tringham M; Tanner L; Paavanen-Huhtala S; Saarinen M; Näntö-Salonen K; Simell O; Niinikoski H; Mykkänen J
Mol Immunol; 2015 Oct; 67(2 Pt B):416-25. PubMed ID: 26210182
[TBL] [Abstract][Full Text] [Related]
17. The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.
Ko JM; Shin CH; Yang SW; Seong MW; Park SS; Song J
J Korean Med Sci; 2012 Aug; 27(8):961-4. PubMed ID: 22876067
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
