Results 31 to 40 of about 957 (152)

Lyso-globotriaosylsphingosine induces endothelial dysfunction via autophagy-dependent regulation of necroptosis

The Korean Journal of Physiology & Pharmacology, 2023
Fabry disease is a lysosomal storage disorder characterized by the lysosomal accumulations of glycosphingolipids in a variety of cytotypes, which include endothelial cells. The disease is inherited and originates from an error in glycosphingolipid catabolism caused by insufficient α-galactosidase A activity, which causes uncontrolled progressive ...
Hwang, Ae-Rang, Park, Seonghee, Woo, Chang-Hoon   +2 more
openaire   +2 more sources

Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions

Biomolecules, 2021
Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3).
Ken Kok, Kimberley C. Zwiers, Rolf G. Boot, Hermen S. Overkleeft, Johannes M. F. G. Aerts, Marta Artola   +5 more
doaj   +1 more source

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

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   +4 more sources

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma [PDF]

Clinica Chimica Acta, 2015
Recent data have shown that lyso-Gb3, the deacylated derivative of globotriaosylceramide (Gb3), is possibly involved in the pathogenesis of Fabry disease (FD) and might be a clinically useful biomarker of its metabolic load. To test this hypothesis, we assayed Gb3 and lyso-Gb3 and related analogs in plasma and/or urine samples of 12 clinically well ...
Susana Ferreira, Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, José Pedro Nunes, Elisabete Martins, Scott Garman, João Paulo Oliveira   +7 more
openaire   +2 more sources

Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation

Frontiers in Immunology, 2021
Fabry disease (FD) is an X-linked multisystemic lysosomal storage disease due to a deficiency of α-galactosidase A (GLA/AGAL). Progressive cellular accumulation of the AGAL substrate globotriaosylceramide (Gb3) leads to endothelial dysfunction.
Solvey Pollmann, David Scharnetzki, Dominique Manikowski, Malte Lenders, Eva Brand   +4 more
doaj   +1 more source

Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease

Experimental and Therapeutic Medicine, 2018
Although plasma globotriaosylsphingosine (lyso-Gb3) is a promising biomarker of Fabry disease (FD), few studies have assessed the impact of lyso-Gb3 in patients with FD. A total of 38 patients diagnosed with FD at Ruijin Hospital between January 2012 and December 2014 were recruited in the current study.
Ouyang, Yan, Chen, Bing, Pan, Xiaoxia, Wang, Zhaohui, Ren, Hong, Xu, Yaowen, Ni, Liyan, Yu, Xialian, Yang, Li, Chen, Nan   +9 more
openaire   +3 more sources

The role of globotriaosylsphingosine in the diagnosis of Fabry disease in Russian patients

Nauchno-prakticheskii zhurnal «Medicinskaia genetika», 2020
Болезнь Фабри (БФ), MIM 301500 - Х-сцепленное заболевание, обусловленное мутациями в гене GLA, который кодирует фермент α-галактозидазу А (α-гал А). В 2017 году в лаборатории молекулярной генетики и медицинской геномики «НМИЦ здоровья детей» Министерства Здравоохранения России был разработан и внедрен метод определения концентрации лизо-Гб3 для ...
openaire   +2 more sources

Case Report: First Two Identified Cases of Fabry Disease in Central Asia

Frontiers in Genetics, 2021
Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly ...
Francesca Cainelli, Francesca Cainelli, Dias Argandykov, Dauren Kaldarbekov, Murat Mukarov, Liên Tran Thi Phuong, Dominique P. Germain, Dominique P. Germain, Dominique P. Germain   +8 more
doaj   +1 more source

Fabry disease in a Japanese population-molecular and biochemical characteristics

Molecular Genetics and Metabolism Reports, 2018
We had experienced 117 Japanese Fabry patients (72 males and 45 females) from 1977 to 2006, and then we generated an improved Fabry analysis system in 2007 and have found 196 ones (95 males and 101 females) since then.
Hitoshi Sakuraba, Takahiro Tsukimura, Tadayasu Togawa, Toshie Tanaka, Tomoko Ohtsuka, Atsuko Sato, Tomoko Shiga, Seiji Saito, Kazuki Ohno   +8 more
doaj   +1 more source

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

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   +1 more source