Results 101 to 110 of about 2,063 (198)

Impaired plasma membrane calcium ATPase activity and mitochondrial dysfunction contribute to calcium dysregulation in Fabry disease-related painful neuropathy

Neurobiology of Disease
Neuropathic pain is a hallmark symptom in Fabry disease (FD), a hereditary X-linked lysosomal storage disorder caused by a reduced activity of α-galactosidase A (α-Gal A).
Francesco Formaggio, Asia Pizzi, Cecilia Delprete, Davide Pasqualini, Isabella Mataloni, Roberto Rimondini, Ludovica Campolongo, Vincenzo Donadio, Anna Maria Ghelli, Rocco Liguori, Marco Caprini   +10 more
doaj   +1 more source

Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients

BMC Pharmacology and Toxicology, 2017
Background Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.
Kazuya Tsuboi, Hiroshi Yamamoto
doaj   +1 more source

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease [PDF]

, 2020
The lysosomal storage disorder Fabry disease is characterized by a deficiency of the lysosomal enzyme \u3b1-Galactosidase A. The observation that missense variants in the encoding GLA gene often lead to structural destabilization, endoplasmic reticulum ...
A. Hermann, A. Rolfs, A.K. Giese, A.M. Knospe, A.U. Brauer, C. Cimmaruta, C. Cozma, D. Koczan, G. Andreotti, G. Fuellen, J. Lukas, L.R. Haake, M. Ernst, M.V. Cubellis, S. Seemann, S. Struckmann, V. Citro   +16 more
core   +1 more source

A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Pegunigalsidase alfa, a PEGylated α‐galactosidase A enzyme replacement therapy (ERT) for Fabry disease, has a longer plasma half‐life than other ERTs administered intravenously every 2 weeks (E2W). BRIGHT (NCT03180840) was a phase III, open‐label study in adults with Fabry disease, previously treated with agalsidase alfa or beta E2W for ≥3 ...
Myrl Holida, Aleš Linhart, Antonio Pisani, Nicola Longo, François Eyskens, Ozlem Goker‐Alpan, Eric Wallace, Patrick Deegan, Camilla Tøndel, Ulla Feldt‐Rasmussen, Derralynn Hughes, Anat Sakov, Rossana Rocco, Einat Brill Almon, Sari Alon, Raul Chertkoff, David G. Warnock, Stephen Waldek, William R. Wilcox, John A. Bernat   +19 more
wiley   +1 more source

Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study [PDF]

, 2023
BACKGROUND: Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD).
Alon, S, Brill-Almon, E, Chertkoff, R, Dostálová, G, Geberhiwot, T, Giraldo, P, Hughes, D, Jovanovic, A, Linhart, A, Nicholls, K, Rocco, R, Tøndel, C, Vujkovac, B, West, ML   +13 more
core  

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for early diagnosis and targeted treatment. This study aimed to identify all treatable IEMs
Bibiche den Hollander, Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Brad Winter, Annelieke R. Müller, Wyeth W. Wasserman, Carlos R. Ferreira, Clara D. van Karnebeek   +9 more
wiley   +1 more source

The use of globotriaosylsphingosine to detect and monitor Fabry Disease [PDF]

, 2016
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the α-galactosidase-A (α-gal-A) enzyme. The lack of enzymatic activity results in the accumulation of glycosphingolipids (GSLs) in the lysosomes of various tissues and
Alharbi, Fahad Jazza
core  

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases [PDF]

, 2023
Dried blood spots (DBSs) biomarkers are convenient for monitoring for specific lysosomal storage diseases (LSDs), but they could have relevance for other LSDs.
Clayton, Peter T, Doykov, Ivan, Gissen, Paul, Heywood, Wendy E, Hällqvist, Jenny, Mills, Kevin, Mills, Philippa, Papandreou, Apostolos, Spiewak, Justyna   +8 more
core  

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Fabry disease is an X‐linked lysosomal disease caused by variants in the GLA gene. Although Fabry disease is X‐linked, GLA gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X‐linked recessive disease.
Alison C. Leslie, Jeanine Jarnes, Alia Ahmed, Sofia Shrestha, Jeffrey Wang, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

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

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   +1 more source