Results 11 to 20 of about 286,880 (314)

Alpha galactosidase A activity in Parkinson's disease [PDF]

Neurobiology of Disease, 2018
Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson's Disease (PD) cases is within healthy range but reduced compared to controls.
R.N. Alcalay, P. Wolf, O.A. Levy, U.J. Kang, C. Waters, S. Fahn, B. Ford, S.H. Kuo, N. Vanegas, H. Shah, C. Liong, S. Narayan, M.W. Pauciulo, W.C. Nichols, Z. Gan-Or, G.A. Rouleau, W.K. Chung, P. Oliva, J. Keutzer, K. Marder, X.K. Zhang   +20 more
doaj   +6 more sources

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
The aberrant accumulation of alpha-synuclein (α-syn) is believed to contribute to the onset and pathogenesis of Parkinson's disease (PD). The autophagy-lysosome pathway (ALP) is responsible for the high capacity clearance of α-syn.
Michael P. Nelson, Michel Boutin, Tonia E. Tse, Hailin Lu, Emily D. Haley, Xiaosen Ouyang, Jianhua Zhang, Christiane Auray-Blais, John J. Shacka   +8 more
doaj   +5 more sources

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. [PDF]

Orphanet J Rare Dis, 2016
BackgroundFabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma.MethodsTo determine the clinical impact of the alpha-Galactosidase A ...
Lenders M, Weidemann F, Kurschat C, Canaan-Kühl S, Duning T, Stypmann J, Schmitz B, Reiermann S, Krämer J, Blaschke D, Wanner C, Brand SM, Brand E.   +12 more
europepmc   +6 more sources

Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy [PDF]

Molecular Genetics and Metabolism Reports, 2020
Fabry disease is an X-linked metabolic disorder due to a pathogenic mutation of the GLA gene. The accumulation of globotriaosylceramide (Gb3) damages multiple organs, including the heart, kidney and nervous system, especially in classical type Fabry ...
Kenichi Hongo, Toru Harada, Eiko Fukuro, Masahisa Kobayashi, Toya Ohashi, Yoshikatsu Eto   +5 more
doaj   +3 more sources

Bioconversion of Beet Molasses to Alpha-Galactosidase and Ethanol [PDF]

Frontiers in Microbiology, 2019
Molasses are sub-products of the sugar industry, rich in sucrose and containing other sugars like raffinose, glucose, and fructose. Alpha-galactosidases (EC.
María-Efigenia Álvarez-Cao, María-Esperanza Cerdán, María-Isabel González-Siso, Manuel Becerra   +3 more
doaj   +4 more sources

Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development

Molecular Pain, 2016
Background Fabry disease is an X-linked lysosomal storage disorder due to impaired activity of alpha-galactosidase A with intracellular accumulation of globotriaosylceramide. Associated small fiber pathology leads to characteristic pain in Fabry disease.
Nurcan Üçeyler MD, Lydia Biko, Dorothea Hose, Lukas Hofmann BSc, Claudia Sommer MD   +4 more
doaj   +4 more sources

Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease. [PDF]

Int J Mol Sci, 2020
Fabry Disease (FD) is a rare, X-linked, lysosomal storage disease that mainly causes renal, cardiac and cerebral complications. Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A is available, but approximately 50% of male patients ...
van der Veen SJ, Vlietstra WJ, van Dussen L, van Kuilenburg ABP, Dijkgraaf MGW, Lenders M, Brand E, Wanner C, Hughes D, Elliott PM, Hollak CEM, Langeveld M.   +11 more
europepmc   +2 more sources

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients. [PDF]

Orphanet J Rare Dis, 2020
Background Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting ...
Varela P, Mastroianni Kirsztajn G, Motta FL, Martin RP, Turaça LT, Ferrer HLF, Gomes CP, Nicolicht P, Mara Marins M, Pessoa JG, Braga MC, D'Almeida V, Martins AM, Pesquero JB.   +13 more
europepmc   +2 more sources

Unexpectedly High Prevalence of Low Alpha-Galactosidase A Enzyme Activity in Patients with Focal Segmental Glomerulosclerosis [PDF]

Clinics, 2020
OBJECTIVES: Fabry disease (FD) is a rare disease associated with sphingolipid accumulation. Sphingolipids are components of plasma membranes that are important in podocyte function and accumulate in various glomerular diseases such as focal segmental ...
Nuri Baris Hasbal, Feyza Bayrakdar Caglayan, Tamer Sakaci, Elbis Ahbap, Yener Koc, Mustafa Sevinc, Zuhal Atan Ucar, Abdulkadir Unsal, Taner Basturk   +8 more
doaj   +3 more sources

Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study. [PDF]

Medicine (Baltimore), 2018
Single nucleotide polymorphisms (SNPs) in the alpha-galactosidase A gene region (GLA) have been discussed as potential cause of symptoms and organ manifestations similarly to those seen in Fabry disease (FD).
Oder D, Liu D, Üçeyler N, Sommer C, Hu K, Salinger T, Müntze J, Petritsch B, Ertl G, Wanner C, Nordbeck P, Weidemann F.   +11 more
europepmc   +2 more sources