Results 71 to 80 of about 900,860 (290)
Production of secreted guar alpha-galactosidase by Lactococcus lactis
, 1995 A plant alpha-galactosidase gene was inserted in the expression vector pGKV259. The resulting plasmid pGAL2 consisted of the replication functions of the broad-host-range lactococcal plasmid pWVO1, the lactococcal promoter P59, and the DNA sequences ...
Bolhuis, A +4 more
core +1 more source
Orphanet Journal of Rare Diseases, 2010 Background The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficult tissues and have low cost ...
Correra Antonella +4 more
doaj +1 more source
Advanced Science, EarlyView.The protein aggregates and gene expression in the middle temporal gyrus (MTG) and somatosensory cortex (SOM) of the postmortem brains of 13 Alzheimer's disease patients were studied in detail, revealing that small hyperphosphorylated tau aggregates increase with Braak stage driven by microglial inflammation.
Elizabeth A. English +9 more
wiley +1 more source
Purification, characterization, and partial nucleotide sequencing of soybean alpha-galactosidase
, 1991 Soybeans (Glycine max) contain an $\alpha$-galactosidase that makes up 0.05% of the total protein of the seed. $\alpha$-Galactosidase hydrolyzes stachyose and raffinose into galactose and sucrose, the initial energy sources in the germinating seed.
Porter, Jill Elizabeth
core +1 more source
Turkish Journal of Internal Medicine, 2020 Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj
Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation
Journal of Inborn Errors of Metabolism and Screening, 2014 Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and ...
Nilton Salles Rosa Neto MD, PhD
doaj +1 more source
Alpha-1 antitrypsin deficiency gut microbiome
, 2020 This dataset contains 16S rRNA Illumina MiSeq sequenced samples used in our gut microbiome study in individuals with alpha-1 antitrypsin deficiency (AATD) and controls (non-AATD)
Kirst, ME (University of Florida)
core +1 more source
Архивъ внутренней медицины, 2013 This article is an analysis of the clinical case of differential diagnosis of Fabry disease. Pecular symptoms and the principles of diagnosis of Fabry disease, as well as current treatment options for this disease are presented.
Г. П. Арутюнов +1 more
doaj +1 more source
Activity of α-d-Galactosidase in Long-Stored Seeds of Vicia hirsuta
, 2023 Mature seeds of many crop species contain substantial amounts of soluble carbohydrates, including raffinose family oligosaccharides (RFOs) and cyclitol galactosides (Gal-C).
Ewa Gojło
core +1 more source
Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?
Brazilian Journal of NephrologyFabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene,
Gilson Biagini +7 more
doaj +1 more source