Results 91 to 100 of about 6,638 (157)

NGAL as a Biomarker of Tubular Injury and Glomerular Dysfunction in Fabry Nephropathy

Cells
Fabry disease (FD) is an X-linked lysosomal disorder caused by pathogenic variants in the GLA gene, resulting in α-galactosidase A deficiency and accumulation of Gb3/lyso-Gb3 (globotriaosylceramide/globotriaosylsphingosine) in cells, including podocytes ...
Margarita M. Ivanova, Julia Dao, Leah Svarny, Emily Nguyen, Sahithi Ponnam, Ozlem Goker-Alpan   +5 more
doaj   +1 more source

Effects of Gb3 and lyso-Gb3 treatments on ECM component expression in HK2 cells.

, 2015
(A) Immunoblotting analysis of fibronectin and type IV collagen following Gb3 (30 μM and 45 μM, respectively) treatment of HK2 cells for 72 h. (B) Immunoblotting analysis of fibronectin and type IV collagen following lyso-Gb3 (200 nM and 400 nM ...
Sung-Chul Jung (785337), Hae-Young Park (785336), Joo-Won Park (785335), Namhee Jung (589929), Yeo Jin Jeon (785334)   +4 more
core   +1 more source

Effect of lyso-Gb3 on the intestinal microbiota may contribute to gastrointestinal symptoms in Fabry’s disease patients

, 2019
Resumen del trabajo presentado al 29th European Congress of Clinical Microbiology and Infectious Diseases (ECCMID), celebrado en Amsterdam (Netherlands) del 13 al 16 de abril de 2019.[Background]: Fabry’s disease is an X-linked, lysosomal storage ...
Martínez-Cuesta, M. Carmen, Esteban, Jaime, Sánchez-Niño, María Dolores, Peláez, Carmen, Sáez Martínez, Esteban F., Requena, Teresa, Ortiz, Alberto, Aguilera-Correa, John-Jairo   +7 more
core  

Effect of α-gal A on the expression of EMT markers induced by Gb3 and lyso-Gb3.

, 2015
(A) Immunoblotting analysis of expression of TGF-β and EMT markers induced by Gb3 (30 μM and 45 μM, respectively) in HK2 cells with or without α-gal A (10 μg/ml). (B) Immunoblotting analysis of expression of TGF-β and EMT markers induced by lyso-Gb3 (200
Sung-Chul Jung (785337), Hae-Young Park (785336), Joo-Won Park (785335), Namhee Jung (589929), Yeo Jin Jeon (785334)   +4 more
core   +1 more source

The Role of Kidney Biopsy in Fabry Disease

Biomedicines
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and subsequent accumulation of glycosphingolipids, including globotriaosylceramide (Gb3) and ...
Irene Capelli, Laura Martano, Gian Marco Berti, Gisella Vischini, Sarah Lerario, Vincenzo Donadio, Alex Incensi, Valeria Aiello, Francesca Ciurli, Benedetta Fabbrizio, Stefano Chilotti, Renzo Mignani, Gianandrea Pasquinelli, Gaetano La Manna   +13 more
doaj   +1 more source

Multiplex Tandem Mass Spectrometry Analysis of Novel Plasma Lyso-Gb₃‑Related Analogues in Fabry Disease

, 2016
Fabry disease is a multisystemic, X-linked lysosomal storage disorder caused by a deficit in α-galactosidase A enzyme activity leading to glycosphingolipid accumulation, mainly globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Christiane Auray-Blais (1413886), Michel Boutin (1413883)   +1 more
core   +1 more source

Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease

Orphanet Journal of Rare Diseases
Background The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in ...
Malte Lenders, Albina Nowak, Markus Cybulla, Jessica Kaufeld, Anja Friederike Köhn, Nicole Maria Muschol, Christine Kurschat, Eva Brand   +7 more
doaj   +1 more source

Disease severity and lyso-Gb3 are associated with early echocardiographic markers of cardiac involvement in Fabry disease: a single-center observational study

Background Cardiac involvement in Fabry disease often begins with subtle functional abnormalities before overt hypertrophy or systolic dysfunction becomes evident.
Gökhan Altunbaş, Merve Binicier İnce, İlkay Doğan, Deniz Mitil, Zeynel Abidin Sayiner, Kayahan Tekinşen   +5 more
core   +1 more source

Les biomarqueurs dans la maladie de Fabry: relation entre Sphingosine-1 phosphate et Lyso-Gb3

, 2012
Problématique : La maladie de Fabry est une maladie métabolique à stockage lysosomal. C'est une maladie héreditaire à transmission récessive qui concerne l'enzyme alpha-Galactosidase A. Le gène de l'alpha-Galactosidase A (GLA) se trouve au niveau du bras
Moro, D.
core   +1 more source

Relative versus Absolute Globotriaosylsphingosine Changes and Kidney Outcomes in Fabry Disease

Background Plasma globotriaosylsphingosine (lyso-Gb3) levels decrease after enzyme replacement therapy (ERT) in patients with Fabry disease (FD). However, it remains unclear whether absolute or relative changes in lyso-Gb3 levels more accurately reflect ...
Shunsuke Goto, Toshiyuki Hirai, Hideki Fujii, Hayaki Okamoto, Mika Fujita, Momoko Tabuchi   +5 more
core   +1 more source