Results 51 to 60 of about 3,524,002 (263)
Българска неврология, 2023 Lysosomal storage diseases involve about 50 rare genetic metabolic diseases engaging various mutations/pathological variants that cause enzyme deficiency and lysosomal dysfunction due to accumulation of certain substrates in them: lipids, glycoproteins,
Ivan Milanov +2 more
doaj
Lysosomal storage diseases: from pathophysiology to therapy.
, 2015 Lysosomal storage diseases are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal function and by intralysosomal accumulation of undegraded substrates.
BALLABIO, ANDREA +2 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai +13 more
wiley +1 more source
Lysosomal storage diseases: difficulties in differintial diagnosis
Фундаментальная и клиническая медицина, 2019 Inherited metabolic disorders represent a heterogeneous group of diseases which are difficult to be diagnosed in pediatric and therapeutic practice. Theirclinical symptoms are non-specific and common.
T. Y. Pomytkina, A. Y. Davydova
doaj +1 more source
The Role of Exosomes in Lysosomal Storage Disorders
Biomolecules, 2021 Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason +3 more
doaj +1 more source
Fusogenic RNA Nanomodules for Fusion‐Mediated and Multiplexed siRNA Delivery
Advanced Functional Materials, EarlyView.A fusogenic lipid‐layered RNA nanomodules (L‐CRAMs) enable high‐capacity and long‐lasting siRNA delivery through membrane fusion. These nanomodules carry exceptionally large siRNA payloads, avoid conventional endosomal uptake, and release multiple functional siRNAs through Dicer‐mediated processing.
Sunghyun Moon +5 more
wiley +1 more source
Lysosomal acid lipase deficiency in a 6-year-old child: case report
Archives of the Balkan Medical Union, 2020 Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI +2 more
doaj +1 more source
Sphingolipid lysosomal storage diseases: from bench to bedside
Lipids in Health and Disease, 2021 Johann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late nineteenth century, but it was only in the past fifty years that SL research surged in importance and applicability.
Muna Abed Rabbo +3 more
doaj +1 more source
Advanced Functional Materials, EarlyView.An integrated pulmonary mRNA delivery platform combining novel biodegradable syringic acid‐derived ionizable lipids, design‐of‐experiments formulation optimization, and vibrating‐mesh nebulizer engineering enabled stable aerosolization and efficient lung delivery.
Neha Kaushal +21 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.Engineered red blood cell‐derived extracellular vesicles (eRBCEVs) are synthesized via controlled microfluidic assembly from native RBC lipids, enabling tunable encapsulation of proteins, nucleic acids, nanoparticles, and viral vectors. The platform demonstrates reproducible nanoscale architecture, preserved membrane composition, and functional cargo ...
Chiranth K. Nagaraj +23 more
wiley +1 more source