Results 51 to 60 of about 9,175 (221)
Doppler ultrasound study of portal hemodynamics in patients with Gaucher disease [PDF]
Archives of Biological Sciences, 2015 Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase and characterized by the presence of pathological macrophages laden with glucosylceramide.
Šarenac-Kovač Radmila +4 more
doaj +1 more source
Analysis of Extracellular Vesicles Produced by Gaucher Model Macrophage Cells
, 2020 Gaucher disease is a lysosomal storage disease caused by mutations in the glucocerebrosidase gene, which impairs the function of the enzyme acid β-glucosidase, leading to glucosylceramide and sphingolipids accumulation within the lysosomes of mainly ...
Malta Neri, Lara Chrystina
core
A Systematic Review on Disease‐Modifying Therapies in Parkinsonian Disorders
Clinical Pharmacology &Therapeutics, EarlyView.Parkinsonian disorders, including Parkinson's disease, Lewy body dementia, multiple system atrophy, and progressive supranuclear palsy, are progressive neurodegenerative conditions with no treatment options to slow disease progression. This systematic review provides an overview of evidence of disease‐modifying therapies that have been evaluated in ...
Pepijn P.N.M. Eijsvogel +3 more
wiley +1 more source
Mechanisms of Gaucher Disease Pathogenesis [PDF]
, 2015 Gaucher disease is caused by mutations in the Gba1 gene encoding an acid β-glucocerebrosidase (GBA1), the lysosomal hydrolase which breaks down glucosylceramide (GlcCer).
Wheeler, Simon, Sillence, Daniel J.
core +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Patients with Gaucher disease display systemic oxidative stress dependent on therapy status
Molecular Genetics and Metabolism Reports, 2020 Gaucher disease is an autosomal recessive metabolic disorder caused by mutations in GBA1, which encodes for the lysosomal hydrolase enzyme, β-glucocerebrosidase.
Reena V. Kartha +9 more
doaj +1 more source
Journal of Lipid Research, 2021 : Deficiency of glucocerebrosidase (GBA), a lysosomal β-glucosidase, causes Gaucher disease. The enzyme hydrolyzes β-glucosidic substrates and transglucosylates cholesterol to cholesterol-β-glucoside.
Daphne E. Boer +15 more
doaj +1 more source
Interdisciplinary Materials, EarlyView.This review systematically summarizes recent advances in silicon‐based all‐solid‐state batteries under stack‐pressure regulation, with emphasis on materials design, interfacial regulation, structural optimization, and cell assembly. Emerging strategies for mitigating silicon volume expansion while maintaining continuous ion/electron transport at low ...
Zhishuo Zang +10 more
wiley +1 more source
Journal of Lipid Research, 2005 Gaucher disease is a common lysosomal storage disease caused by a defect of acid β-glucosidase (GCase). The optimal in vitro hydrolase activity of GCase requires saposin C, an activator protein that derives from a precursor, prosaposin.
Ying Sun +3 more
doaj +1 more source
Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini +5 more
wiley +1 more source