Results 31 to 40 of about 21,042 (237)
EMBO Molecular Medicine, 2015 Metabolite accumulation in lysosomal storage disorders (LSDs) results in impaired cell function and multi‐systemic disease. Although substrate reduction and lysosomal overload‐decreasing therapies can ameliorate disease progression, the significance of ...
Gennaro Napolitano +7 more
doaj +1 more source
Gaucher disease: achievements and prospects
Терапевтический архив, 2021 Gaucher disease (GD) is the most common lysosomal storage disorder, resulting from a deficiency in the activity of a lysosomal enzyme glucocerebrosidase, which is involved in the catabolism of sphingolipids.
Rodion V. Ponomarev, Elena A. Lukina
doaj +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Nature Communications, 2021 Mucopolysaccharidosis type IVA (MPSIVA) is a lysosomal storage disorder causing severe skeletal and non-skeletal alterations in patients. Here, the authors generate a MPSIVA rat model that mimics the disabling human pathology and develop an AAV9-Galns ...
Joan Bertolin +18 more
doaj +1 more source
A Spatially Resolved View on the Aging Substantia nigra: An Exploratory Proteomic Study
Advanced Biology, EarlyView.Although aging is the most important risk factor for several neurodegenerative diseases, the molecular effects of physiological aging are still understudied. By applying spatially‐resolved proteomic analyses of the human substantia nigra pars compacta, alterations in vesicular trafficking and mitochondrial proteins are observed, as well as reduced ...
Britta Eggers +10 more
wiley +1 more source
Neurobiology of Disease, 2017 Saposin deficiency is a childhood neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of life.
Samantha J. Hindle +4 more
doaj +1 more source
Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides [PDF]
The Ukrainian Biochemical Journal, 2015 Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete failure
N. Y. Mytsyk +2 more
doaj +1 more source
Advanced Functional Materials, EarlyView.This study presents a microfluidic brain microvascular network‐on‐chip (BMVasChip) to investigate endothelial barrier dysfunction caused by flavivirus non‐structural protein 1 (NS1), including virus‐ and time‐dependent vascular damage, leakiness, and dysfunction.
Monika Rajput +5 more
wiley +1 more source
Biomaterial Strategies for Targeted Intracellular Delivery to Phagocytes
Advanced Functional Materials, EarlyView.Phagocytes are essential to a functional immune system, and their behavior defines disease outcomes. Engineered particles offer a strategic opportunity to target phagocytes, harnessing inflammatory modulation in disease. By tuning features like size, shape, and surface, these systems can modulate immune responses and improve targeted treatment for a ...
Kaitlyn E. Woodworth +2 more
wiley +1 more source
Smart Nanogels as Enzyme‐Driven Nanomotors for Navigating Viscous Physiological Barriers
Advanced Functional Materials, EarlyView.Two families of urease‐powered nanomotors (NMs), with and without a p‐(2‐hydroxyethyl methacrylate) (p‐HEMA) shell, have been successfully prepared. Both types exhibit effective motion in highly viscous synovial fluid media at low urea concentrations (25 mM).
David Esporrín‐Ubieto +6 more
wiley +1 more source