Results 51 to 60 of about 2,063 (198)

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

Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease. [PDF]

Mol Genet Genomic Med
ABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses. Methods Eleven venglustat‐treated male patients with classic FD in the
Germain DP, DasMahapatra P, Liu S, Deegan P, Ortiz A, Modur V, Wilcox WR.   +6 more
europepmc   +2 more sources

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain

Neuroscience Letters, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy. Globotriaosylsphingosine (lyso-Gb3), a deacylated form of globotriaosylceramide (Gb3), has emerged as a marker of Fabry disease.
La Yoon Choi, J. D. R. Vernon, Olga Kopach, Michael S. Minett, Kevin Mills, Peter T. Clayton, T. Meert, John N. Wood   +7 more
openalex   +4 more sources

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]

, 2017
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
Colomba P, Corpora F, DAIDONE, Mario, Della Corte V, Di Chiara T, Duro G, Miceli S, Nucera A, Pecoraro R, Pinto A., Scaglione R, Simonetta I, Tuttolomondo A, VOGIATZIS, Danai, Zizzo C   +14 more
core   +1 more source

Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease [PDF]

, 2021
Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by lysosomal accumulation of glycosphingolipids in a wide variety of cytotypes, including endothelial cells (ECs).
Accardi G., Adamo G., Aiello A., Alessandro R., Augello G., Cammarata G., Candore G., Caruso C., Colomba P., Costa M. A., Di Chiara T., Duro G., Francofonte D., Lo Curto A., Passantino R., Taverna S., Zizzo C., Zora M.   +17 more
core   +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

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

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

Pathogenesis and molecular mechanisms of anderson–fabry disease and possible new molecular addressed therapeutic strategies [PDF]

, 2021
Anderson–Fabry disease (AFD) is a rare disease with an incidenceof approxi-mately 1:117,000 male births. Lysosomal accumulation of globotriaosylceramide (Gb3) is the element characterizing Fabry disease due to a hereditary deficiency α-galactosidase A ...
Di Chiara T., Miceli S., Pinto A., Riolo R., Simonetta I., Todaro F., Tuttolomondo A.   +6 more
core   +1 more source

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. [PDF]

, 2015
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Arngrímsson, Reynir, Barbey, Frederic, Biegstraaten, Marieke, Boks, Lut, Cecchi, Franco, Deegan, Patrick B, Feldt-Rasmussen, Ulla, Geberhiwot, Tarekegn, Germain, Dominique P, Hendriksz, Chris, Hollak, Carla E M, Hughes, Derralynn A, Kantola, Ilkka, Karabul, Nesrin, Lavery, Christine, Linthorst, Gabor E, Mehta, Atul, Oliveira, João P, Parini, Rossella, Ramaswami, Uma, Rudnicki, Michael, Serra, Andreas, Sommer, Claudia, Sunder-Plassmann, Gere, Svarstad, Einar, Sweeb, Annelies, Terryn, Wim, Tylki-Szymanska, Anna, Tøndel, Camilla, van de Mheen, Erica, Vujkovac, Bojan, Weidemann, Frank, Wijburg, Frits A, Woolfson, Peter   +33 more
core   +1 more source