Results 11 to 20 of about 982 (163)

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Molecular Genetics and Metabolism Reports, 2014
Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later ...
Takahiro Tsukimura, Sachie Nakano, Tadayasu Togawa, Toshie Tanaka, Seiji Saito, Kazuki Ohno, Futoshi Shibasaki, Hitoshi Sakuraba   +7 more
doaj   +4 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   +7 more sources

Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease

Kidney Research and Clinical Practice, 2019
Heejoon Jang, Kwon Wook Joo, Seung Seok Han   +2 more
doaj   +5 more sources

Fabry Disease Nephropathy: Compendium of "in vitro" and "in vivo" Renal Effects of Globotriaosylsphingosine. [PDF]

Kidney Blood Press Res
Background: Renal damage in Fabry disease (FD) is a consequence of pathological and progressive glycosphingolipids accumulation, which occurs in different magnitudes among FD phenotypes, but is a constant renal tissue phenomenon in all patients with renal involvement.
Jaurretche SPA, Del Rosal MV, Brajkovic ML, Isaac JI, Venera G, Pérez G.   +5 more
europepmc   +4 more sources

Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients. [PDF]

Intern Med, 2023
Objectives Fabry disease is characterized by the systemic accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), which are widely used as biomarkers of the disease. However, few reports have described the relationship of Lyso-Gb3 analogs and Gb3 isoforms with the disease.
Shiga T, Tsukimura T, Kubota T, Togawa T, Sakuraba H.   +4 more
europepmc   +5 more sources

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy [PDF]

Frontiers in Genetics
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine ...
Lanxin Li, Tianyu Chang, Xichen Li, Yinglu Hao, Min Deng, Yanping Li   +5 more
doaj   +2 more sources

Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots [PDF]

International Journal of Molecular Sciences, 2023
Fabry disease (FD) is an X-linked lysosomal storage disorder where impaired α-galactosidase A enzyme activity leads to the intracellular accumulation of undegraded glycosphingolipids, including globotriaosylsphingosine (lyso-Gb3) and related analogues. Lyso-Gb3 and related analogues are useful biomarkers for screening and should be routinely monitored ...
Michel Boutin, Paméla Lavoie, Margot Beaudon, Georges Kabala Ntumba, Daniel G. Bichet, Bruno Maranda, Christiane Auray‐Blais   +6 more
openalex   +3 more sources

Evaluating the Metabolic Basis of α-Gal A mRNA Therapy for Fabry Disease [PDF]

Biology
mRNA injection-based protein supplementation has emerged as a feasible treatment for Fabry disease. However, whether the introduction of LNP-encapsulated mRNA results in the alteration of metabolomics in an in vivo system remains largely unknown.
Zhendong Zhang, Qi Liu, Zhiwen Deng, Jun Liu, Shuang Li, Mei Hong, Yucai Peng   +6 more
doaj   +2 more sources

Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels

Clinical Journal of the American Society of Nephrology, 2023
Background Fabry disease is a very heterogeneous X-linked lysosomal storage disease. Disease manifestations in the kidneys, heart, and brain vary greatly, even between patients of the same sex and with the same disease classification (classical or nonclassical).
Sanne J. van der Veen, Mohamed El Sayed, Carla E. M. Hollak, Marion M. Brands, C. Khya S. Snelder, S. Matthijs Boekholdt, Liffert Vogt, Susan Goorden, André B. P. Kuilenburg, Mirjam Langeveld   +9 more
openalex   +5 more sources

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs [PDF]

Frontiers in Cardiovascular Medicine
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, Maurizio Gallieni, Chiara Lanzillo, Antonella La Russa, Giuseppe Limongelli, Renzo Mignani, Renzo Mignani, Iacopo Olivotto, Federico Pieruzzi, Federico Pieruzzi, Antonio Pisani   +12 more
doaj   +2 more sources