Results 41 to 50 of about 114,325,321 (319)
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 +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 +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
American Journal of Human Genetics, 2002 Fabry disease is an inborn error of glycosphingolipid catabolism, resulting from deficient activity of lysosomal alpha-galactosidase A (alpha-Gal A). A rare alternative splicing that introduces a 57-nucleotide (nt) intronic sequence to the alpha-Gal A ...
S. Ishii +4 more
semanticscholar +1 more source
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 +7 more
doaj +1 more source
Removal of flatulence causing sugars in soymilk [PDF]
, 2009 The enzyme, alpha-galactosidase was extracted from peanuts using various buffers and solvents. The specific activity of soluble preparation of peanut ranged from 0.0083 to 0.0606 U/mg.
Rajan, Anila
core
FEBS Open Bio, EarlyView.IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo +6 more
wiley +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 +12 more
doaj +1 more source
Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level
Aging and Cancer, EarlyView.This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley +1 more source
When should we think about Fabry disease?
Journal of Education, Health and SportAccording to the European Union definition, a rare disease is a disease that occurs with a frequency of less than 5 per 10,000. Rare diseases pose a major diagnostic problem for physicians.
Natalia Chojnacka +7 more
doaj +1 more source