229 related articles for article (PubMed ID: 36613802)
1. Gene Expression Analysis in
Elsaid HOA; Tjeldnes H; Rivedal M; Serre C; Eikrem Ø; Svarstad E; Tøndel C; Marti HP; Furriol J; Babickova J
Int J Mol Sci; 2022 Dec; 24(1):. PubMed ID: 36613802
[TBL] [Abstract][Full Text] [Related]
2. Proteomic analysis unveils Gb3-independent alterations and mitochondrial dysfunction in a gla
Elsaid HOA; Rivedal M; Skandalou E; Svarstad E; Tøndel C; Birkeland E; Eikrem Ø; Babickova J; Marti HP; Furriol J
J Transl Med; 2023 Sep; 21(1):591. PubMed ID: 37670295
[TBL] [Abstract][Full Text] [Related]
3. Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells.
Do HS; Park SW; Im I; Seo D; Yoo HW; Go H; Kim YH; Koh GY; Lee BH; Han YM
EBioMedicine; 2020 Feb; 52():102633. PubMed ID: 31981984
[TBL] [Abstract][Full Text] [Related]
4. Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.
Namdar M; Gebhard C; Studiger R; Shi Y; Mocharla P; Schmied C; Brugada P; Lüscher TF; Camici GG
PLoS One; 2012; 7(4):e36373. PubMed ID: 22558451
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G; Zizzo C; Cammarata G; Burlina A; Burlina A; Polo G; Scalia S; Oliveri R; Sciarrino S; Francofonte D; Alessandro R; Pisani A; Palladino G; Napoletano R; Tenuta M; Masarone D; Limongelli G; Riccio E; Frustaci A; Chimenti C; Ferri C; Pieruzzi F; Pieroni M; Spada M; Castana C; Caserta M; Monte I; Rodolico MS; Feriozzi S; Battaglia Y; Amico L; Losi MA; Autore C; Lombardi M; Zoccali C; Testa A; Postorino M; Mignani R; Zachara E; Giordano A; Colomba P
Int J Mol Sci; 2018 Nov; 19(12):. PubMed ID: 30477121
[TBL] [Abstract][Full Text] [Related]
6. Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.
Nowak A; Mechtler TP; Desnick RJ; Kasper DC
Mol Genet Metab; 2017; 120(1-2):57-61. PubMed ID: 27773586
[TBL] [Abstract][Full Text] [Related]
7. Fabry disease due to D313Y and novel GLA mutations.
Koulousios K; Stylianou K; Pateinakis P; Zamanakou M; Loules G; Manou E; Kyriklidou P; Katsinas C; Ouzouni A; Kyriazis J; Speletas M; Germenis AE
BMJ Open; 2017 Oct; 7(10):e017098. PubMed ID: 28988177
[TBL] [Abstract][Full Text] [Related]
8. Enzyme Replacement Therapy Clears Gb3 Deposits from a Podocyte Cell Culture Model of Fabry Disease but Fails to Restore Altered Cellular Signaling.
Braun F; Blomberg L; Brodesser S; Liebau MC; Schermer B; Benzing T; Kurschat CE
Cell Physiol Biochem; 2019; 52(5):1139-1150. PubMed ID: 30990584
[TBL] [Abstract][Full Text] [Related]
9. Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.
Nowak A; Mechtler TP; Hornemann T; Gawinecka J; Theswet E; Hilz MJ; Kasper DC
Mol Genet Metab; 2018 Feb; 123(2):148-153. PubMed ID: 28728877
[TBL] [Abstract][Full Text] [Related]
10. Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells.
Schumann A; Schaller K; Belche V; Cybulla M; Grünert SC; Moers N; Sass JO; Kaech A; Hannibal L; Spiekerkoetter U
J Inherit Metab Dis; 2021 Jul; 44(4):1039-1050. PubMed ID: 33661535
[TBL] [Abstract][Full Text] [Related]
11. Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson-Fabry Disease.
Tuttolomondo A; Baglio I; Riolo R; Todaro F; Parrinello G; Miceli S; Simonetta I
Int J Mol Sci; 2023 Dec; 25(1):. PubMed ID: 38203231
[TBL] [Abstract][Full Text] [Related]
12. Functional evaluation of a novel GLA causative mutation in Fabry disease.
Li P; Zhang L; Xiong Q; Wang Z; Cui X; Zhou YA; Wang Y; Xiao H; Wu C
Mol Genet Genomic Med; 2019 Sep; 7(9):e864. PubMed ID: 31321922
[TBL] [Abstract][Full Text] [Related]
13. Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technology.
Pereira EM; Labilloy A; Eshbach ML; Roy A; Subramanya AR; Monte S; Labilloy G; Weisz OA
Am J Physiol Renal Physiol; 2016 Nov; 311(5):F1015-F1024. PubMed ID: 27681560
[TBL] [Abstract][Full Text] [Related]
14. Precision medicine in Fabry disease.
Lenders M; Brand E
Nephrol Dial Transplant; 2021 Jun; 36(Suppl 2):14-23. PubMed ID: 34153986
[TBL] [Abstract][Full Text] [Related]
15. Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.
Esposito P; Caputo C; Repetto M; Somaschini A; Pietro B; Colomba P; Zizzo C; Parodi A; Zanetti V; Canepa M; Eustachi V; Sanguineri F; Mandich P; Viazzi F
BMC Nephrol; 2023 Nov; 24(1):344. PubMed ID: 37990184
[TBL] [Abstract][Full Text] [Related]
16. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Rosa Neto NS; Bento JCB; Pereira RMR
Adv Rheumatol; 2020 Jan; 60(1):7. PubMed ID: 31907047
[TBL] [Abstract][Full Text] [Related]
17.
Li P; Xi Y; Zhang Y; Samad A; Lan W; Wu Y; Zhao J; Chen G; Wu C; Xiong Q
Cells; 2024 Mar; 13(5):. PubMed ID: 38474401
[TBL] [Abstract][Full Text] [Related]
18. Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Dai X; Zong X; Pan X; Lu W; Jiang GR; Lin F
Orphanet J Rare Dis; 2022 Jun; 17(1):237. PubMed ID: 35725559
[TBL] [Abstract][Full Text] [Related]
19. Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
Csányi B; Hategan L; Nagy V; Obál I; Varga ET; Borbás J; Tringer A; Eichler S; Forster T; Rolfs A; Sepp R
Int Heart J; 2017 May; 58(3):454-458. PubMed ID: 28496025
[TBL] [Abstract][Full Text] [Related]
20. Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach.
Klug K; Spitzel M; Hans C; Klein A; Schottmann NM; Erbacher C; Üçeyler N
Int J Mol Sci; 2023 Oct; 24(20):. PubMed ID: 37895103
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]