Results 81 to 90 of about 954,264 (289)
Advanced Science, EarlyView.This work reports conceptually unprecedented topological quantum biomaterials derived from engineered Pd3Sn nanostrips for oncological applications. Their near‐Fermi‐level electronic architecture and superior interfacial charge transport facilitate ultrasound‐amplified redox reactions and efficient ROS generation.
Zilu Chen +10 more
wiley +1 more source
Genetic determination of the alpha-galactosidase developmental program in mice.
, 1975 The expression of alpha-galactosidase in liver, heart, and brain during postembryonic development has been examined in several inbred mouse strains. In most strains, the developmental patterns of alpha-galactosidase are coordinate with those of two ...
Lusis, A J, Paigen, K
core +1 more source
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
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.Diabetic bone defects remain a critical clinical challenge. A 3D‐printed BCPG‐MF@Y scaffold, embedding Yoda1‐functionalized manganese dioxide‐ferritin nanozymes, scavenges mtROS, suppresses the cGAS–STING pathway, and reverses cellular senescence, while Yoda1 activates Piezo1 to direct BMSCs fate to synergistically reprogram the osteoimmune ...
Qing‐Song Deng +16 more
wiley +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
, 1990 Three forms of alpha-galactosidase occur in germinating guar representing 100% of the activity present. They are alpha-galactosidase-A (anionic, 28%), alpha-galactosidase-C1 (cationic, 12%) and alpha-galactosidase-C2 (cationic, 60%).
Shivanna, B. D. +2 more
core
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]
, 2013 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Rolfs, A +32 more
core +2 more sources
Advanced Science, EarlyView.Genome‐wide CRISPRi and RNA‐seq resolve how B. thetaiotaomicron converts host mucosal glycans into fitness. The study reveals a layered mucin‐utilization architecture in which capsular polysaccharides constrain surface access, extracellular CAZymes and peptidases show functional redundancy, and intracellular catabolic pathways create discrete metabolic
Kangsan Kim +5 more
wiley +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