Results 71 to 80 of about 184,426 (243)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo +5 more
wiley +1 more source
Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
Novos complexos de cobre de relevância bioinorgânica: modelos para a galactose oxidase [PDF]
, 2001 Dissertação (Mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Físicas e Matemáticas. Curso de Pós-Graduação em QuímicaO estudo de compostos modelos, dentro da Química Bioinorgânica, continua contribuindo significativamente no ...
Anjos, Ademir dos
core
Galactose-Based Block Copolymers with Switchable χ Parameters for Tuning Phase Separated Morphology
, 2023 Block copolymer (BCP) self-assembly has emerged over the past two decades as a promising method for generation of features for manufacture of integrated circuits and memory devices.
Francis McCallum (14827397) +8 more
core +1 more source
Advanced NanoBiomed Research, EarlyView.Aging disrupts the cellular, immune, vascular, and neural processes required for bone regeneration. This review connects these pathological barriers with biomimetic nanomedicine design, highlighting strategies for cellular rejuvenation, immune modulation, vascular regeneration, and neuro–bone coupling.
Zeyu Wang +12 more
wiley +1 more source
, 2018 Aggregation-induced emission (AIE) active molecules emerge as new generation fluorescent probes, and their transformation to functional nanoparticle can greatly extend the application potential.
Kuheli Mandal (2399146) +1 more
core +1 more source
Influence of galactose cataract on erythrocytic and lenticular glutathione metabolism in albino rats
Indian Journal of Ophthalmology, 2011 Context: Glutathione depletion has been postulated to be the prime reason for galactose cataract. The current research seeks the prospect of targeting erythrocytes to pursue the lens metabolism by studying the glutathione system.
M Jyothi, R Sanil, S Shashidhar
doaj +1 more source
Targeting CYP450 modulation to decrease the risk of induced cataract in the experimental model
Indian Journal of Ophthalmology, 2010 Background: Diabetes is one of the major causes of cataract. Some drugs prescribed for the treatment of diabetes are the modulators of CYP450, which may alter the risk of cataract.
Patel D +4 more
doaj
The sodium-dependent D-glucose transport protein of Helicobacter pylori [PDF]
, 2008 Helicobacter pylori is a gram-negative pathogenic microaerophile with a particular tropism for the mucosal surface of the gastric epithelium. Despite its obligatory microaerophilic character, it can metabolize D-glucose and/or D-galactose in both ...
Kim E. Bettaney +21 more
core +1 more source
Angewandte Chemie International Edition, Volume 65, Issue 44, 26 October 2026.Modular carbohydrate‐directed labeling probes (CDLPs) convert weak carbohydrate–protein interactions into durable covalent tags in live cells without the need for multivalency or UV irradiation. Ligand binding triggers proximity‐enabled, glycan‐releasing acyl transfer to install a click handle for protein tagging and chemoproteomic profiling.
Matthew C. Russolillo +7 more
wiley +1 more source