Results 51 to 60 of about 16,645,960 (212)
Mass Spectrometry Reviews, EarlyView.ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley +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
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
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
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
Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1
American Journal of Medical Genetics Part A, EarlyView.
Erika R. Vucko +6 more
wiley +1 more source
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis
Movement Disorders, EarlyView.Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba +30 more
wiley +1 more source
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients
Frontiers in Immunology, 2019 The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases ...
Catia S. Pereira +25 more
doaj +1 more source
Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant +6 more
wiley +1 more source
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report
Clinical Case Reports, 2022 Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene in the Tunisian population.
Houweyda Jilani +7 more
doaj +1 more source