Results 11 to 20 of about 46,559 (266)

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

Neurobiol Dis, 2018
Nelson MP, Boutin M, Tse TE, Lu H, Haley ED, Ouyang X, Zhang J, Auray-Blais C, Shacka JJ.   +8 more
europepmc   +2 more sources

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. [PDF]

, 2015
UnlabelledMigalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently
Adera, Mathews, Barlow, Carrolee, Barth, Jay, Bichet, Daniel G, Boudes, Pol, Eyskens, Francois, Flanagan, John J, Goker-Alpan, Ozlem, Holida, Myrl, Johnson, Franklin K, Khanna, Richie, Lockhart, David J, Nicholls, Kathy, Shankar, Suma, Sitaraman, Sheela, Thomas, Mark, Valenzano, Kenneth J, Warnock, David G, Wustman, Brandon A   +18 more
core   +8 more sources

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

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

Phylogenomic study of Burkholderia glathei-like organisms, proposal of 13 novel Burkholderia species and emended descriptions of Burkholderia sordidicola, Burkholderia zhejiangensis, and Burkholderia grimmiae [PDF]

, 2016
Partial gyrB gene sequence analysis of 17 isolates from human and environmental sources revealed 13 clusters of strains and identified them as Burkholderia glathei Glade (BGC) bacteria.
Cooper, Vaughn S, De Brandt, Evie, Meier-Kolthoff, Jan P, Peeters, Charlotte, Vandamme, Peter, Verheyde, Bart   +5 more
core   +6 more sources

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

Metagenome-assembled genome sequences of three uncultured planktomarina sp. strains from the Northeast Atlantic Ocean [PDF]

, 2020
We report three metagenome-assembled genomes (MAGs) of Planktomarina strains from coastal seawater (Portugal) to help illuminate the functions of understudied Rhodobacteraceae bacteria in marine environments.
Borges, Nuno, da Rocha, Ulisses Nunes, Da Silva Costa, Rodrigo, Keller-Costa, Tina, Lago-Lestón, Asunción, Marques, Matilde, Silva, Sandra Godinho   +6 more
core   +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