Results 1 to 10 of about 78,667 (269)

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   +5 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

Enzymatic properties and clinical associations of serum alpha‐galactosidase A in Parkinson's disease [PDF]

Annals of Clinical and Translational Neurology, 2023
Objective Recent studies have revealed an association between Parkinson's disease (PD) and Fabry disease, a lysosomal storage disorder; however, the underlying mechanisms remain to be elucidated.
Yasuaki Mizutani, Kazuki Nawashiro, Reiko Ohdake, Harutsugu Tatebe, Sayuri Shima, Akihiro Ueda, Junichiro Yoshimoto, Mizuki Ito, Takahiko Tokuda, Tatsuro Mutoh, Hirohisa Watanabe   +10 more
doaj   +2 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   +2 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   +2 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   +2 more sources

Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience [PDF]

Diagnostic Pathology, 2010
Background Lysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment. This study reports interval values for the activity of lysosomal enzymes that
Martins Ana M, Pereira Vanessa G, Rodrigues Mayra DB, Müller Karen B, D'Almeida Vânia   +4 more
doaj   +4 more sources

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [PDF]

, 2015
Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales
An Haack, Kristina, Bichet, Daniel G, Bénichou, Bernard, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Ramaswami, Uma, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tylki-Szymańska, Anna, Tøndel, Camilla, Wijburg, Frits A   +17 more
core   +27 more sources

Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report [PDF]

Zhenduanxue lilun yu shijian, 2022
Fabry′s disease is an X-linked recessive genetic disease, which is mainly due to the mutation of (galactosidase A, GLA) gene. The decrease or loss of GLA activity eventually leads to the deposition of its metabolic substrate in multiple organs of
HAO Xu, WANG Weiming
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