Results 81 to 90 of about 7,450 (200)

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. [PDF]

, 2015
UnlabelledMigalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently
Adera, Mathews, Barlow, Carrolee, Barth, Jay, Bichet, Daniel G, Boudes, Pol, Eyskens, Francois, Flanagan, John J, Goker-Alpan, Ozlem, Holida, Myrl, Johnson, Franklin K, Khanna, Richie, Lockhart, David J, Nicholls, Kathy, Shankar, Suma, Sitaraman, Sheela, Thomas, Mark, Valenzano, Kenneth J, Warnock, David G, Wustman, Brandon A   +18 more
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Effect of Shiga Toxin on Inhomogeneous Biological Membrane Structure Determined by Small-Angle Scattering

Applied Sciences, 2021
Inhomogeneous structure occurring in biological membranes being rich in glycosphingolipids (GSL) has been proposed as an important phenomenon involved in the cellular endocytosis process.
Shuyang Tu, Haijiao Zhang, Yawen Li, Yongchao Zhang, Qiang Tian, László Almásy, Xianhui Xu, Rongguang Zhang, Aihua Zou, Na Li   +9 more
doaj   +1 more source

Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation of the X chromosome. While most of the identified variants are deleterious for GLA, in some cases, less rare gene variants have been ...
Antonina Giammanco, Carola Maria Gagliardo, Chiara Scrimali, Federica Brucato, Teresa Maria Grazia Fasciana, Maurizio Averna, Angelo Baldassare Cefalu, Davide Noto   +7 more
wiley   +1 more source

Shiga toxin type-2 (Stx2) induces glutamate release via phosphoinositide 3-kinase (PI3K) pathway in murine neurons.

Frontiers in Molecular Neuroscience, 2015
Shiga toxin-producing Escherichia coli (STEC) can cause central nervous system (CNS) damage resulting in paralysis, seizures, and coma. The key STEC virulence factors associated with systemic illness resulting in CNS impairment are Shiga toxins (Stx ...
Fumiko eObata, Fumiko eObata, Lauren M Hippler, Progyaparamita eSaha, Dakshina M Jandhyala, Olga eLatinovic, Olga eLatinovic   +6 more
doaj   +1 more source

Shiga Toxin Detection Methods : A Short Review [PDF]

, 2013
The Shiga toxins comprise a family of related protein toxins secreted by certain types of bacteria. Shigella dysenteriae, some strain of Escherichia coli and other bacterias can express toxins which caused serious complication during the infection. Shiga
González-Aguilar, G., Guerrero, Y. Castaño   +1 more
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Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single‐Centre Cohort

European Journal of Neurology, Volume 32, Issue 11, November 2025.
A retrospective cohort study of 368 adults with Fabry disease in the UK analysed time to stroke over approximately 10 years. It found that concomitant autoimmune disease increased stroke risk, while eGFR > 90 mL/min and the p.N215S genotype were associated with lower risk.
David Moreno‐Martinez, Sara Lucas‐Del‐Pozo, Lucia Lavalle, Uma Ramaswami, Lionel Ginsberg, Guillem Pintos‐Morell, Derralynn A. Hughes   +6 more
wiley   +1 more source

Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland

ESC Heart Failure, Volume 12, Issue 5, Page 3502-3511, October 2025.
Abstract Aims To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients. Methods and results Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, mean ages 42 and 52 years) were followed for a mean of 12 years.
Kati Valtola, Päivi Pietilä‐Effati, Jonna M. E. Männistö, Susanne Walls, Ilkka Kantola, Johanna Kuusisto   +5 more
wiley   +1 more source

Diagnóstico y tratamiento de la enfermedad de Fabry [PDF]

, 2017
El texto en español se encuentra disponibe en http://doi.org/10.1016/j.medcli.2016.09.047This work was supported by FIS PI13/00047, PI15/00298, CP14/00133, FEDER funds ISCIII-RETIC REDinREN RD12/0021 and RD16/0009, Sociedad Española de Nefrología ...
Ortiz, Alberto, Sánchez-Niño, María Dolores   +1 more
core   +2 more sources

The Utility of High‐Sensitivity Troponin to Detect Cardiomyopathy in Patients With Fabry Disease

JIMD Reports, Volume 66, Issue 5, September 2025.
ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disease resulting in lysosomal accumulation of glycosphingolipids in multiple organs. In this study, we (1) compare high‐sensitivity cardiac troponins I and T (hs‐cTnI and hs‐cTnT) as markers of Fabry cardiomyopathy (FC), and (2) evaluate the role of hs‐cTn in monitoring early‐stage FC to ...
Subadra Wanninayake, Tejas Kalaria, Antonio Ochoa‐Ferraro, Ashwin Roy, Richard Steeds, Tarekegn Geberhiwot, Charlotte Dawson   +6 more
wiley   +1 more source

Les biomarqueurs dans la maladie de Fabry: relation entre Sphingosine-1 phosphate et Lyso-Gb3 [PDF]

, 2012
Problématique : La maladie de Fabry est une maladie métabolique à stockage lysosomal. C'est une maladie héreditaire à transmission récessive qui concerne l'enzyme alpha-Galactosidase A. Le gène de l'alpha-Galactosidase A (GLA) se trouve au niveau du bras
Moro, D.
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