Results 21 to 30 of about 954,264 (289)

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones. [PDF]

Int J Mol Sci, 2022
Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very large genotypic and phenotypic spectrum. Some patients who carry hypomorphic mutations can benefit from oral therapy with a pharmacological chaperone.
Monticelli M, Liguori L, Allocca M, Bosso A, Andreotti G, Lukas J, Monti MC, Morretta E, Cubellis MV, Hay Mele B.   +9 more
europepmc   +2 more sources

Exploring the impact of 1-deoxynojirimycin on alpha-galactosidase activity and chickpea seed germination through in vitro experiments and molecular docking analysis [PDF]

Journal of Seed Science, 2023
: Seed germination is a tightly regulated physiological process. Hydrolytic enzymes provide energy that brings physiological, biochemical, and physical changes to the seed during germination.
Krishnamoorthy Vengatesh Prasanna, Jobudhas Jenisha, Pasupathi Rathinasabapathi, Rex Arunraj   +3 more
doaj   +1 more source

Lentivirus-mediated gene therapy for Fabry disease

Nature Communications, 2021
Treatments for Fabry disease, an inherited lysosomal disorder caused by the deficiency of the enzyme alpha-galactosidase A, are not fully efficacious.
Aneal Khan, Dwayne L. Barber, Ju Huang, C. Anthony Rupar, Jack W. Rip, Christiane Auray-Blais, Michel Boutin, Pamela O’Hoski, Kristy Gargulak, William M. McKillop, Graeme Fraser, Syed Wasim, Kaye LeMoine, Shelly Jelinski, Ahsan Chaudhry, Nicole Prokopishyn, Chantal F. Morel, Stephen Couban, Peter R. Duggan, Daniel H. Fowler, Armand Keating, Michael L. West, Ronan Foley, Jeffrey A. Medin   +23 more
doaj   +1 more source

The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein [PDF]

Neurobiology of Disease, 2018
Michel Boutin, Jianhua Zhang, Christiane Auray-Blais   +2 more
exaly   +2 more sources

Alpha-Galactosidase A Levels in Colombian Males with End-Stage Renal Disease: Ten Years of Selective Screening in Dried Blood Spots

Journal of Inborn Errors of Metabolism and Screening, 2022
Fabry disease is a metabolic alteration linked to an enzymatic deficiency of Alpha-Galactosidase A, this disorder compromises the sphingolipid metabolism, leading to an accumulation of lysosomal globotriaosylceramide and is inherited in an X-linked ...
Jesus Alfredo Uribe-Ardila, John Freddy Gamba-Rendon   +1 more
doaj   +1 more source

Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy. [PDF]

PLoS ONE, 2015
We developed an immunochromatography-based assay for detecting antibodies against recombinant α-galactosidase A proteins in serum. The evaluation of 29 serum samples from Fabry patients, who had received enzyme replacement therapy with agalsidase alpha ...
Sachie Nakano, Takahiro Tsukimura, Tadayasu Togawa, Toya Ohashi, Masahisa Kobayashi, Katsuyoshi Takayama, Yukuharu Kobayashi, Hiroshi Abiko, Masatsugu Satou, Tohru Nakahata, David G Warnock, Hitoshi Sakuraba, Futoshi Shibasaki   +12 more
doaj   +1 more source

RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death

Cells, 2021
Fabry disease is a lysosomal storage disease with an X-linked heritage caused by absent or decreased activity of lysosomal enzymes named alpha-galactosidase A (α-gal A).
So-Young Kim, Samel Park, Seong-Woo Lee, Ji-Hye Lee, Eun Soo Lee, Miri Kim, Youngjo Kim, Jeong Suk Kang, Choon Hee Chung, Jong-Seok Moon, Eun Young Lee   +10 more
doaj   +1 more source

p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease

Anatolian Journal of Cardiology, 2022
Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity.
Hasan Ali Barman, Adem Atıcı, Serhan Özyıldırım, Serdar Ceylaner, Memduh Dursun, Sait Mesut Doğan   +5 more
doaj   +1 more source

Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease

Frontiers in Genetics, 2023
Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha ...
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +1 more source

Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

BMC Pediatrics, 2020
Background Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance ...
Hasani Hewavitharana, Eresha Jasinge, Hiranya Abeysekera, Jithangi Wanigasinghe   +3 more
doaj   +1 more source