Results 41 to 50 of about 1,308 (153)

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

Molecular Therapy: Methods & Clinical Development, 2020
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A).
Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler   +16 more
doaj   +1 more source

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.

PLoS ONE, 2015
Fabry disease is caused by deficient activity of α-galactosidase A (GLA) and characterized by systemic accumulation of glycosphingolipids, substrates of the enzyme.
Hideaki Sueoka, Mikio Aoki, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba   +4 more
doaj   +1 more source

Patient-Reported Outcomes in Subjects With A143T and R118C GLA Gene Variants

Journal of Inborn Errors of Metabolism and Screening, 2021
Background Fabry disease (FD) is caused by pathogenic variants in the GLA gene. A143T and R118C variants are considered not disease causing. Patient-reported outcomes provide information concerning the effects of their disease but should be carefully ...
Nilton Salles Rosa Neto, Judith Campos de Barros Bento, Rosa Maria Rodrigues Pereira   +2 more
doaj   +1 more source

Human Alpha Galactosidases Transiently Produced in Nicotiana benthamiana Leaves: New Insights in Substrate Specificities with Relevance for Fabry Disease

Frontiers in Plant Science, 2017
Deficiency of α-galactosidase A (α-GAL) causes Fabry disease (FD), an X-linked storage disease of the glycosphingolipid globtriaosylcerammide (Gb3) in lysosomes of various cells and elevated plasma globotriaosylsphingosine (Lyso-Gb3) toxic for podocytes ...
Kassiani Kytidou, Thomas J. M. Beenakker, Lotte B. Westerhof, Cornelis H. Hokke, Geri F. Moolenaar, Nora Goosen, Mina Mirzaian, Maria J. Ferraz, Mark de Geus, Wouter W. Kallemeijn, Herman S. Overkleeft, Rolf G. Boot, Arjen Schots, Dirk Bosch, Johannes M. F. G. Aerts   +14 more
doaj   +1 more source

Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease [PDF]

Journal of Nephropathology, 2015
Background: The existence of membranous cytoplasmic bodies in biopsied kidney tissues is one of the important findings when considering Fabry disease as the first choice diagnosis.
Hitoshi Sakuraba, Takahiro Tsukimura, Toshie Tanaka, Tadayasu Togawa, Naoki Takahashi, Daisuke Mikami, Sachiko Wakai, Yasuhiro Akai   +7 more
doaj   +1 more source

Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease

Frontiers in Immunology, 2022
Enzyme replacement therapy (ERT) with recombinant α-galactosidase A (AGAL) can lead to the formation of neutralizing anti-drug antibodies (ADA), which significantly limit treatment efficacy in patients with Fabry disease (FD).
Malte Lenders, Eva Brand
doaj   +1 more source

Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease [PDF]

, 2012
The X-chromosomal-linked lysosomal storage disorder Fabry disease can lead to life-threatening manifestations. The pathological significance of the Fabry mutation D313Y is doubted, because, in general, D313Y patients do not present clinical manifestations conformable with Fabry disease.
Markus, Niemann, Arndt, Rolfs, Anne, Giese, Hermann, Mascher, Frank, Breunig, Georg, Ertl, Christoph, Wanner, Frank, Weidemann   +7 more
openaire   +2 more sources

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Molecular Genetics and Metabolism Reports, 2014
Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later ...
Takahiro Tsukimura, Sachie Nakano, Tadayasu Togawa, Toshie Tanaka, Seiji Saito, Kazuki Ohno, Futoshi Shibasaki, Hitoshi Sakuraba   +7 more
doaj   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology

Orphanet Journal of Rare Diseases, 2022
Background There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from ...
K. Savostyanov, A. Pushkov, I. Zhanin, N. Mazanova, S. Trufanov, A. Pakhomov, A. Alexeeva, D. Sladkov, A. Asanov, A. Fisenko   +9 more
doaj   +1 more source