Results 41 to 50 of about 957 (152)

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

Angewandte Chemie International Edition, EarlyView.
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   +1 more source

The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China

Annals of Medicine
Objective Whereas a few studies have evaluated vestibular involvement in Fabry disease (FD), the relationship between vestibular/oculomotor abnormalities and disease-specific biomarkers remain unclear.
Yinglin Leng, Yawen Zhao, Hong Zhou, Xia Ling, Xia Wang, Guiping Zhao, Wei Zhang   +6 more
doaj   +1 more source

Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels

Clinical Journal of the American Society of Nephrology, 2023
Background Fabry disease is a very heterogeneous X-linked lysosomal storage disease. Disease manifestations in the kidneys, heart, and brain vary greatly, even between patients of the same sex and with the same disease classification (classical or nonclassical).
Sanne J. van der Veen, Mohamed el Sayed, Carla E.M. Hollak, Marion M. Brands, C. Khya S. Snelder, S. Matthijs Boekholdt, Liffert Vogt, Susan M.I. Goorden, André B.P. van Kuilenburg, Mirjam Langeveld   +9 more
openaire   +3 more sources

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels [PDF]

Human Genome Variation, 2017
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene.
Chinen, Yasutsugu, Nakamura, Sadao, Yoshida, Tomohide, Maruyama, Hiroki, Nakamura, Kimitoshi   +4 more
openaire   +2 more sources

Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy

Cells, 2023
Fabry disease (FD) is a lysosomal disorder caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide (Gb-3) and its metabolite globotriaosylsphingosine (Lyso-Gb-3).
Margarita M. Ivanova, Julia Dao, Omar Abu Slayeh, Andrew Friedman, Ozlem Goker-Alpan   +4 more
doaj   +1 more source

Signal Peptide Engineering and Codon Optimization to Enhance α‐Gal A Activity for rAAV Gene Therapy of Fabry Disease

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Fabry disease is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A (α‐Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso‐Gb3) in various organs.
Siwu He, Li Yang, Ke Wan, Zhaoyue Zheng, Mi Leng, Chunmei Gan, Yu Liu, Lin Xiao, Jingya Ye, Zhian Chen, Jiao Zhou, C. Alexander Valencia, Aliah Abuammah, Hoi Yee Chow, Biao Dong, Yucheng Chen   +15 more
wiley   +1 more source

Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross‐Sectional Multicentre Study

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Fabry disease (FD) is a rare, X‐linked lysosomal storage disorder affecting multiple organs, including the musculoskeletal system. The physical status of FD patients remains poorly characterized. This multicentre cross‐sectional study aimed to evaluate physical fitness and function in FD patients and investigate associations with ...
Nicola Vitturi, Giorgia Gugelmo, Andrea Gasperetti, Federica Duregon, Alessandro Dalmonico, Livia Lenzini, Sara Sponchiado, Gianni Carraro, Giacomo Marchi, Mattia Cominacini, Claudia Momentè, Federica Baciga, Claudia Baschirotto, Federica Caccia, Domenico Girelli, Andrea Ermolao, Gian Paolo Fadini, Yuri Battaglia   +17 more
wiley   +1 more source

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy [PDF]

BMJ Open Respiratory Research, 2018
Introduction Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations of GLA gene leading to reduced α-galactosidase activity and resulting in a progressive accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3).
Franzen, Daniel, Haile, Sarah R, Kasper, David C, Mechtler, Thomas P, Flammer, Andreas J, Krayenbühl, Pierre A, Nowak, Albina   +6 more
openaire   +3 more sources

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach

Life, 2022
(1) Background: As a lysosomal storage disorder, Fabry’s disease (FD) shows variable clinical manifestations. We applied our multidisciplinary approach to identify any organ damage in a sample of adult patients with different pathogenic variants.
Marco Angelo Monte, Massimiliano Veroux, Margherita Stefania Rodolico, Valentina Losi, Luigi Di Pino, Rita Bella, Giuseppe Lanza, Ines Paola Monte   +7 more
doaj   +1 more source