Results 11 to 20 of about 1,271 (166)

A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3) [PDF]

Molecules, 2021
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A).
Alessandro Perrone, Susan Mohamed, Vincenzo Donadio, Rocco Liguori, Manuela Contin   +4 more
doaj   +6 more sources

Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide. [PDF]

PLoS ONE, 2015
Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (α-gal A), which results in the deposition of globotriaosylceramide (Gb3) in the vascular endothelium.
Yeo Jin Jeon, Namhee Jung, Joo-Won Park, Hae-Young Park, Sung-Chul Jung   +4 more
doaj   +7 more sources

Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease. [PDF]

PLoS ONE, 2012
BackgroundFabry disease (FD) is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA) resulting in the accumulation of globotriaosylsphingosine (Gb3) in a variety of tissues.
Mehdi Namdar, Catherine Gebhard, Rafael Studiger, Yi Shi, Pavani Mocharla, Christian Schmied, Pedro Brugada, Thomas F Lüscher, Giovanni G Camici   +8 more
doaj   +7 more sources

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. [PDF]

PLoS ONE, 2013
Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3).
Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin   +15 more
doaj   +14 more sources

Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy [PDF]

Nephrology Dialysis Transplantation, 2010
Transforming growth factor-β1 (TGF-β1) and the macrophage inhibitory factor receptor CD74 link the metabolic disorder with tissue injury in diabetic nephropathy. Fabry disease is an X-linked lysosomal glycosphingolipid storage disorder resulting from a deficient activity of α-galactosidase A that leads to proteinuric renal injury.
Sanchez-Nino, MD, Sanz, AB, Carrasco, S, Saleem, MA, Mathieson, PW, Valdivielso, JM, Ruiz-Ortega, M, Egido, J, Ortiz, A   +8 more
openaire   +5 more sources

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.

PLoS ONE, 2015
Fabry disease is caused by deficient activity of α-galactosidase A (GLA) and characterized by systemic accumulation of glycosphingolipids, substrates of the enzyme.
Hideaki Sueoka, Mikio Aoki, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba   +4 more
doaj   +4 more sources

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

Journal of Medical Genetics, 2015
Background Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A (GLA) gene variants, has a heterogeneous phenotype. GLA variants can lead to classical FD, an attenuated non-classical phenotype, or no disease at all. This study investigates the value of plasma globotriaosylsphingosine (lysoGb3)
Smid, Bouwien E., van der Tol, Linda, Biegstraaten, Marieke, Linthorst, Gabor E., Hollak, Carla E. M., Poorthuis, Ben J. H. M.   +5 more
openaire   +4 more sources

Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2010
Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3). The diagnostic value and clinical relevance of plasma lysoGb3 concentration was investigated.
Rombach, S.M., Dekker, N., Bouwman, M.G., Linthorst, G.E., Zwinderman, A.H., Wijburg, F.A., Kuiper, S., Weerrnan van der Berg, M.A., Groener, J.E.M., Poorthuis, B.J., Hollak, C.E.M., Aerts, J.M.F.G.   +11 more
openaire   +5 more sources

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels [PDF]

Human Genome Variation, 2017
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene.
Chinen, Yasutsugu, Nakamura, Sadao, Yoshida, Tomohide, Maruyama, Hiroki, Nakamura, Kimitoshi   +4 more
openaire   +4 more sources

Fabry Disease: Integrating Molecular Pathophysiology, Precision Diagnosis, and Artificial Intelligence Toward Precision Medicine [PDF]

Cells
Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient α-galactosidase A activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso ...
Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba, Monia Anania, Giovanni Duro, Francesco Di Blasi   +5 more
doaj   +2 more sources