Results 41 to 50 of about 1,271 (166)

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Rolfs, A, Hermann Mascher (440562), Hermann Mascher, Anne-Katrin Giese, Ed Kolodny, Ulrike Grittner, Anne-Katrin Giese (440558), Arndt Rolfs (140849), Arseni Markoff (440559), Mascher, H, Arseni Markoff, Markoff, A, Karl J. Lackner (133732), Viatcheslav Saviouk (364866), Viatcheslav Saviouk, Saviouk, V, Phillip Wree, Arndt Rolfs, Grittner, U, Jan Lukas, Kolodny, E, Ed Kolodny (440561), Phillip Wree (440564), Wree, P, Jan Lukas (338014), Ulrike Grittner (440560), Karl J Lackner, Lukas, J, Wolfgang Meyer, Meyer, W, Wolfgang Meyer (440563), Giese, A-K, Lackner, KJ   +32 more
core   +2 more sources

Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We described a 12‐year‐old boy with classic Fabry disease who was diagnosed through newborn screening. At age 6.2, he started agalsidase alfa based on evidence of subclinical organ involvement. At age 7.2, acroparesthesia subsequently developed.
Koga N, Yodogawa H, Sawada T, Mushimoto Y, Nagamitsu S, Nakamura K, Hirose S, Inoue T.   +7 more
europepmc   +2 more sources

Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
Background Because systemic inflammation and endothelial dysfunction lead to heart failure with preserved ejection fraction, we characterized plasma levels of inflammatory and cardiac remodeling biomarkers in patients with Fabry disease (FD). Methods and
Haran Yogasundaram, Anish Nikhanj, Brendan N. Putko, Michel Boutin, Shailly Jain‐Ghai, Aneal Khan, Christiane Auray‐Blais, Michael L. West, Gavin Y. Oudit   +8 more
doaj   +1 more source

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, Volume 138, Issue 41, 5 October 2026.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +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

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

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

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

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

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