Results 11 to 20 of about 7,739 (261)

Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease

Molecular Genetics and Metabolism Reports, 2023
Fabry disease (FD) is an inherited disease caused by deficient α-galactosidase A activity that is characterized by the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Atsumi Taguchi, Satoshi Ishii, Mariko Mikame, Hiroki Maruyama   +3 more
doaj   +3 more sources

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?

Molecular Genetics and Metabolism Reports, 2021
Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Takahiro Tsukimura, Tomoko Shiga, Koki Saito, Yasuhiro Ogawa, Hitoshi Sakuraba, Tadayasu Togawa   +5 more
doaj   +3 more sources

Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease. [PDF]

PLoS ONE, 2016
The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium.
Nurcan Üçeyler, Nils Schröter, Waldemar Kafke, Daniela Kramer, Christoph Wanner, Frank Weidemann, Claudia Sommer   +6 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   +4 more sources

Globotriaosylceramide Induces Lysosomal Degradation of Endothelial K _Ca 3.1 in Fabry Disease [PDF]

Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
Objective— Globotriaosylceramide (Gb3) induces K Ca 3.1 downregulation in Fabry disease (FD). We investigated whether Gb3 induces K Ca 3.1 endocytosis and degradation. Approach and Results—
Shinkyu Choi, Ji Aee Kim, Hye Young Na, Sung‐Eun Cho, Seonghee Park, Sung‐Chul Jung, Suk Hyo Suh   +6 more
semanticscholar   +4 more sources

The Shiga Toxin Receptor Globotriaosylceramide as Therapeutic Target in Shiga Toxin E. coli Mediated HUS

Microorganisms, 2021
In 90% of the cases, childhood hemolytic uremic syndrome (HUS) is caused by an infection with the Shiga toxin (Stx) producing E. coli bacteria (STEC-HUS).
Wouter J. C. Feitz, Romy Bouwmeester, Thea J. A. M. van der Velden, Susan Goorden, Christoph Licht, Lambert P. J. W. van den Heuvel, Nicole C. A. J. van de Kar   +6 more
doaj   +2 more sources

MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease [PDF]

Genes, 2021
Background: Fabry disease is a hereditary genetic defect resulting in reduced activity of the enzyme α-galactosidase-A and the accumulation of globotriaosylceramide (Gb3) in body fluids and cells. Gb3 accumulation was especially reported for the vascular
Nadine Maier, Constantin Gatterer, Patrick Haider, Manuel Salzmann, Christoph Kaun, Walter S. Speidl, Gere Sunder‐Plassmann, Bruno K. Podesser, Johann Wojta, Senta Graf, Max Lenz, Philipp J. Hohensinner   +11 more
openalex   +2 more sources

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Paula A Rozenfeld PhD, Romina Ceci Bioc, Norma Roa Lic, Isaac Kisinovsky MD   +3 more
doaj   +6 more sources

Long‐Term Clinical‐Pathologic Results of Enzyme Replacement Therapy in Prehypertrophic Fabry Disease Cardiomyopathy [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background The limited ability of enzyme replacement therapy (ERT) in removing globotriaosylceramide from cardiomyocytes is recognized for advanced Fabry disease cardiomyopathy (FDCM).
Andrea Frustaci, Romina Verardo, Nicola Galea, Maria Alfarano, Michele Magnocavallo, Livia Marchitelli, Luigi Sansone, Manuel Belli, Mario Cristina, Emanuela Frustaci, Matteo Antonio Russo, Cristina Chimenti   +11 more
doaj   +2 more sources

Fabry disease-associated globotriaosylceramide induces mechanical allodynia via activation of signaling through proNGF–p75NTR but not mature NGF–TrkA

European Journal of Pharmacology, 2021
Junya Sugimoto, Hiroshi Satoyoshi, Kazue Takahata, Shizuko Muraoka   +3 more
openalex   +2 more sources