Results 51 to 60 of about 123,112 (260)
Clinical guidelines for the management of children with lysosomal acid lipase deficiency
Педиатрическая фармакология, 2023 Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester storage ...
Inga V. Anisimova +32 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
Scientific Reports, 2022 Neuronal ceroid lipofuscinoses (NCL; Batten disease) are a group of inherited neurodegenerative diseases with a common set of symptoms including cognitive and motor decline and vision loss.
S. J. Murray, N. L. Mitchell
doaj +1 more source
Disease models for the development of therapies for lysosomal storage diseases
Annals of the New York Academy of Sciences, 2016 Lysosomal storage diseases (LSDs) are a group of rare diseases in which the function of the lysosome is disrupted by the accumulation of macromolecules.
Miao Xu +5 more
semanticscholar +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
Scientific ReportsMutations in the lysosomal membrane protein CLN3 cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). Activation of the lysosomal ion channel TRPML1 has previously been shown to be beneficial in several neurodegenerative disease models.
D. Wünkhaus +13 more
doaj +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
Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients [PDF]
, 2022 Marisa E. Schwab +7 more
openalex +1 more source
Pompe disease: Shared and unshared features of lysosomal storage disorders
Rare Diseases, 2015 Pompe disease, an inherited deficiency of lysosomal acid α-glucosidase (GAA), is a severe metabolic myopathy with a wide range of clinical manifestations.
Jeong-A Lim +4 more
semanticscholar +1 more source