Results 121 to 130 of about 954,264 (289)

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith, Lauren A. Tauer, Randall H. Friedline, Xiaodi Hu, Duy Tran, Yangyi E. Luo, Nacima Hadjout‐Rabi, Elisabeth R. Barton, Jason K. Kim, Elizabeth J. Luna   +9 more
wiley   +1 more source

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience

Molecular Genetics and Metabolism Reports
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A (α-Gal) activity, leading to progressive renal, cardiac, and cerebrovascular involvement.
Eamon P. McCarron, Rajkumar Chinnadurai, Karolina M. Stepien, John Bassett, Jonathan Meyer, Reena Sharma, Peter Woolfson, Ana Jovanovic   +7 more
doaj   +1 more source

Intra-Laboratory Validation of Alpha-Galactosidase Activity Measurement in Dietary Supplements. [PDF]

Molecules, 2021
Fabris E, Bulfoni M, Nencioni A, Nencioni E.   +3 more
europepmc   +1 more source

Fluorinated Iminosugar Glycomimetics: Synthesis and Activity as GCase Ligands

European Journal of Organic Chemistry, EarlyView.
DAST‐mediated deoxyfluorination of suitably functionalized piperidines provided regio‐ and stereoselective access to fluorinated piperidine and pyrrolidine glycomimetics, the latter arising from an unusual ring‐contraction process. Fluorination generally enhanced β‐glucocerebrosidase (GCase) inhibitory potency, but lost PC activity toward L444P/L444P ...
Francesca Mangiavacchi, Alessio Morano, Cosimo Margheri, Cristina Faggi, Amelia Morrone, Camilla Matassini, Francesca Clemente, Andrea Goti, Martina Cacciarini, Francesca Cardona   +9 more
wiley   +1 more source

Purification of alpha-galactosidase from pepino (Solanum muricatum) by three-phase partitioning

, 2011
Three-phase partitioning (TPP) is a bioseparation technique used for the extraction, concentration and purification of biomolecules. The technique consists of simultaneous addition of a salt (generally ammonium sulfate) to the crude extract followed by ...
Sen, Aysu, Aysu Şen, Hasan Bayraktar, Seçil Önal, Eryilmaz, Melike, Onal, Secil, Bayraktar, Hasan, Melike Eryılmaz   +7 more
core   +1 more source

Illuminating point‐of‐care diagnostics with aggregation‐induced emission biosensors

FlexMat, EarlyView.
This review highlights the application of aggregation‐induced emission luminogens (AIEgens) in point‐of‐care (POC) diagnostics for disease biomarker detection. It systematically examines a range of biosensing platforms, including lateral flow immunoassays, microfluidic chips, and electrochemiluminescence sensors, alongside their utility in detecting ...
Danni Hu, Yubing Hu, Dong Wang, Ben Zhong Tang   +3 more
wiley   +1 more source

Catalytic Mechanism of Human alpha-Galactosidase

, 2010
The enzyme alpha-galactosidase (alpha-GAL, also known as alpha-GAL A; E.C. 3.2.1.22) is responsible for the breakdown of alpha-galactosides in the lysosome. Defects in human alpha-GAL lead to the development of Fabry disease, a lysosomal storage disorder
Clark, Nathaniel E., Garman, Scott C., Guce, Abigail I., Kulminskaya, Anna A., Salgado, Eric N., Ivanen, Dina R., Brumer, Harry,   +6 more
core   +1 more source

Arabinoxylan‐enriched fraction from durum wheat meal modulates structure, texture, nutritional and sensory properties of extruded snacks

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND Arabinoxylans (AX), abundant in wheat bran, represent a valuable yet underutilized fraction of cereal milling by‐products. In this study, an AX‐enriched fraction obtained from durum wheat meal (DWM), produced from defatted durum wheat germ and debranning fractions, was incorporated at increasing levels (0–25%) into pea starch ...
Vittoria Latrofa, Aleksei Kaleda, Carlo Porfido, Giusy Rita Caponio, Giuseppe Natrella, Davide De Angelis, Roberto Terzano, Antonella Pasqualone   +7 more
wiley   +1 more source

Porcine in vitro degradation characteristics of heat pretreated and multi‐enzyme predigested maize whole stillage

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND This study investigated effects of predigesting untreated and heat‐pretreated (at 70 psi and 160 °C for 20 min) maize whole stillage (WS) with multi‐enzyme products on porcine in vitro digestibility and fermentation characteristics.
Kevin S Jerez‐Bogota, Knud E Bach Knudsen, William Gibbons, Tofuko A Woyengo   +3 more
wiley   +1 more source

The Burden of Airway Disease in Mucopolysaccharidoses: Evidence Across Subtypes

The Laryngoscope, EarlyView.
ABSTRACT Objective To synthesize the prevalence and subtype‐specific patterns of airway manifestations in mucopolysaccharidoses (MPS) and summarize related morbidity and mortality. Data Sources PubMed, CINAHL, Ovid Embase, Ovid MEDLINE, and Ovid All EBM Reviews.
Julia Edward, Alix Pincivy, Mathieu Bergeron   +2 more
wiley   +1 more source