Results 11 to 20 of about 7,450 (200)

Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients [PDF]

Genetics in Medicine, 2018
Evaluation standards and treatment initiation timing have been debated for a long time, particularly for late-onset Fabry disease (FD), because of its slow progression. However, early initiation of enzyme replacement therapy (ERT) for FD could be effective in stabilizing the disease progression and potentially preventing irreversible organ damage.
Ming-Jia Hsu, Fu-Pang Chang, Yung-Hsiu Lu, Sheng‐Che Hung, Yu-Chen Wang, An-Hang Yang, Han-Jui Lee, Shih‐Hsien Sung, Yen-Feng Wang, Wen‐Chung Yu, Ting‐Rong Hsu, Po‐Hsun Huang, Sheng-Kai Chang, Ivan Dzhagalov, Chia‐Lin Hsu, Dau‐Ming Niu   +15 more
semanticscholar   +4 more sources

Targeting glucosylceramide synthase induction of cell surface globotriaosylceramide (Gb3) in acquired cisplatin-resistance of lung cancer and malignant pleural mesothelioma cells

Experimental Cell Research, 2015
Acquired resistance to cisplatin treatment is a caveat when treating patients with non-small cell lung cancer (NSCLC) and malignant pleural mesothelioma (MPM). Ceramide increases in response to chemotherapy, leading to proliferation arrest and apoptosis.
Andreas Tyler, Anders Johansson, Terese Karlsson, Shyam Kumar Gudey, Thomas Brännström, Kjell Grankvist, Parviz Behnam‐Motlagh   +6 more
semanticscholar   +5 more sources

A novel soluble analog of the HIV-1 fusion cofactor, globotriaosylceramide (Gb3), eliminates the cholesterol requirement for high affinity gp120/Gb3 interaction [PDF]

Journal of Lipid Research, 2002
We have analyzed the interaction of adamantyl Gb(3) (adaGb(3)), a semi-synthetic soluble analog of Gb(3), with HIV-1 surface envelope glycoprotein gp120. In this analog, which was orginally designed to inhibit verotoxin binding to its glycolipid receptor, Gb(3), the fatty acid chain is replaced with a rigid globular hydrocarbon frame (adamantane ...
Radhia Mahfoud, Murugesapillai Mylvaganam, Clifford A. Lingwood, Jacques Fantini   +3 more
semanticscholar   +5 more sources

HTA65 The Relationship between Globotriaosylceramide (GB3), Globotriaosylsphingosine (LYSO-GB3) and Disease-Related Clinical Events in Patients with Fabry Disease [PDF]

Value in Health, 2022
K Azimpour, E Kim, Mihaela Georgiana Musat, L Monfort, E Cha   +4 more
semanticscholar   +3 more sources

Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease

Clinica Chimica Acta, 2017
Fabry disease (FD) is a disorder that results from mutations of hydrolase α-galactosidase A. The enzymatic defect leads to accumulation of globotriaosylceramide (Gb3) in the kidney. Substrate deposition is related to tissue damage in FD, but the relation of urinary Gb3 levels in patients and the renal function markers remain not completely understood ...
Alana Pimentel Moura, Tatiane Grazieli Hammerschmidt, Marion Deon, Roberto Giugliani, Carmen Regla Vargas   +4 more
semanticscholar   +4 more sources

Glucosylceramide synthase regulates MDR1 gene expression through the association of globotriaosylceramide (Gb3) and histone acetylation

The FASEB Journal, 2009
MDR1 gene is frequently overexpressed in drug‐resistant tumor, and encodes a large amount of P‐glycoprotein protecting cells from cytotoxins. Glucosylceramide synthase (GCS) converting ceramide into glucosylceramide initiates glycosphingolipid (GSL) synthesis and defaults drug‐induced apoptosis.
Yu Liu, Vineet K. Gupta, Gauri A. Patwardhan, Rajeswara C Pinnoji, S. Victor Hsia, S. Michal Jazwinski   +5 more
semanticscholar   +3 more sources

Human Gb3/CD77 synthase: a glycosyltransferase at the crossroads of immunohematology, toxicology, and cancer research [PDF]

Cellular & Molecular Biology Letters
Human Gb3/CD77 synthase (α1,4-galactosyltransferase, P1/Pk synthase, UDP-galactose: β-d-galactosyl-β1-R 4-α-d-galactosyltransferase, EC 2.4.1.228) forms Galα1 → 4Gal structures on glycosphingolipids and glycoproteins.
Katarzyna Szymczak-Kulus, Marcin Czerwinski, Radoslaw Kaczmarek   +2 more
doaj   +3 more sources

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women. [PDF]

J Inherit Metab Dis
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
Lenzini L, Pintus G, Gugelmo G, Burlina AP, Fadini GP, Burlina AB, Vitturi N.   +6 more
europepmc   +2 more sources

The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease [PDF]

BMC Nephrology
Anderson-Fabry disease (AFD) is a multisystem X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A (α-Gal A). This deficiency results in the intracellular accumulation of glycosphingolipids, primarily uncleaved ...
Gian Marco Berti, Valeria Aiello, Gisella Vischini, Sarah Lerario, Francesca Ciurli, Marisa Santostefano, Vincenzo Donadio, Elena Biagini, Michela Fresina, Benedetta Fabbrizio, Francesca Montanari, Daniela Turchetti, Gianandrea Pasquinelli, Renzo Mignani, Gaetano La Manna, Irene Capelli   +15 more
doaj   +2 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