Results 41 to 50 of about 78,667 (269)

Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family

Case Reports in Nephrology, 2020
Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure.
Amaresh R. Vanga, Samantha A. Schrier Vergano, Jolanta Kowalewska, Thomas R. McCune   +3 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

Scientific opinion on the safety and efficacy of AGal-Pro (alpha-galactosidase and endo-1,4-beta-glucanase) as a feed additive for chickens reared for laying and minor poultry species for fattening [PDF]

EFSA Journal, 2013
The additive AGal-Pro, also named as Biogalactosidase BL and AlphaGal BL, is a preparation of alpha-galactosidase (galactosidase) produced by a genetically modified strain of Saccharomyces cerevisiae and of endo-1,4-beta-glucanase (glucanase) produced by
EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP)
doaj   +1 more source

Primary skin fibroblasts as a model of Parkinson's disease [PDF]

, 2012
Parkinson's disease is the second most frequent neurodegenerative disorder. While most cases occur sporadic mutations in a growing number of genes including Parkin (PARK2) and PINK1 (PARK6) have been associated with the disease.
A Grunewald, A Grunewald, A Petit, A Rakovic, A Sajadi, A Sprenger, AL Fridman, AL Fridman, AW Michell, B Stefano Di, Blas Morales-Gordo, C Mytilineou, C Piccoli, CA Costa da, CM Clements, DP Narendra, DT Woodley, E Fernandez-Espejo, EM Valente, F Pan-Montojo, F Soldner, FR Wiedemann, G Tesco, Georg Auburger, GP Connolly, H Braak, H Jiang, H Mortiboys, Heinz Reichmann, HH Hoepken, HH Hoepken, HM Huang, HM Huang, IF Khan, IH Park, J Hoenicka, J Waak, Jessica Drost, JM Harper, K Bayreuther, K Gorner, K Isobe, K Winkler-Stuck, Katrin Marcus, KH Narsinh, L Gasparini, L Grandoso, LS Tain, M Garcia-Arencibia, M Ikemura, M Jendrach, M Klinkenberg, M Sun, M Varma, M Wernig, Marina Jendrach, MB Graeber, MC Maj, Michael Klinkenberg, N Exner, N Hirashima, O Rothfuss, P Hoyo del, P Rieske, R Djaldetti, R Musanti, S Geisler, S Gispert, S Kaneko, S Mai, SM Hussein, Suzana Gispert, T Amo, T Gasser, T Shishido, Ulrich Brandt, Vania Broccoli, WG Tatton, Wolfram S. Kunz, WY Lee, Y Miki, Y Ren, Y Ren, YC Kim, Z Jingzhong   +84 more
core   +1 more source

Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy

Molecular Genetics & Genomic Medicine, 2019
Background Fabry disease (OMIM 301500) is an X‐linked disorder caused by alpha‐galactosidase A (α‐Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or ...
Foudil Lamari, Wladimir Mauhin, Fairouz Koraichi, Walid Khrouf, Celine Bordet, Jonathan London, Olivier Lidove, Philippe Charron   +7 more
doaj   +1 more source

Dysregulated DNA methylation in the pathogenesis of Fabry disease

Molecular Genetics and Metabolism Reports, 2022
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and subsequent accumulation of glycosphingolipids with terminal α-D-galactosyl residues.
Jin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, Yoshinaga Okugawa, Siamak Jabbarzadeh-Tabrizi, Taniqua S. Day, Erland Arning, John Marshall, Seng H. Cheng, Jinghua Gu, Raphael Schiffmann, Teodoro Bottiglieri, Ajay Goel   +12 more
doaj   +1 more source

The identification of chemical compounds that decrease cellular levels of toxic Huntington's disease protein through a novel cell-based assay [PDF]

, 2006
Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 2006.Vita.Includes bibliographical references.Huntington's disease (HD) is a progressive degenerative neurological disorder. Individuals who inherit the IT15 gene with an expansion
Coufal, Myra Alfert
core  

The role of lipid metabolism in neuronal senescence

FEBS Open Bio, EarlyView.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari, Eleftheria Panagiotidou, Nektarios Tavernarakis   +2 more
wiley   +1 more source

Leaf apoplastic proteome composition in UV-B treated Arabidopsis thaliana mutants impaired in extracellular glutathione degradation [PDF]

, 2016
In plants, environmental perturbations often result in oxidative reactions in the apoplastic space, which are counteracted for by enzymatic and non-enzymatic antioxidative systems, including ascorbate and glutathione. The occurrence of the latter and its
Arrigoni, Giorgio, Masi, Antonio, Trentin, ANNA RITA   +2 more
core   +1 more source

Natural Products as Geroprotective Modulators in Diabetic Nephropathy: A Mechanistic Framework Integrating Aging Hallmarks and the AMPK–SIRT1–Nrf2 Axis

Aging and Cancer, EarlyView.
Natural products target the aging kidney in diabetic nephropathy by restoring the AMPK–SIRT1–Nrf2 axis, reducing oxidative stress, inflammation, fibrosis, and cellular senescence while enhancing mitochondrial biogenesis and antioxidant defenses.
Sherif Hamidu, Latif Adams, Eunice Ampem‐Danso, Justice Kumi, Abigail Aning, Fatima Hamidu, Mustapha Abdul Mumin Mohammed, Ayuba Nii Darku Ankrah, Seth Kwabena Amponsah   +8 more
wiley   +1 more source