Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/0076-6879(78)50058-x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Emerging biomarkers in Gaucher disease.
Adv Clin Chem
January 2025
Center for Orphan Drug Research, Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN, United States. Electronic address:
Gaucher disease (GD) is a rare lysosomal disorder characterized by the accumulation of glycosphingolipids in macrophages resulting from glucocerebrosidase (GCase) deficiency. The accumulation of toxic substrates, which causes the hallmark symptoms of GD, is dependent on the extent of enzyme dysfunction. Accordingly, three distinct subtypes have been recognized, with type 1 GD (GD1) as the common and milder form, while types 2 (GD2) and 3 (GD3) are categorized as neuronopathic and severe.
View Article and Find Full Text PDFThe α-Synuclein Seeding Amplification Assay for Parkinson's Disease.
Int J Mol Sci
January 2025
National Neuroscience Institute of Singapore, 11 Jalan Tan Tock Seng, Singapore 30843, Singapore.
Parkinson's disease (PD) is the second most common neurodegenerative disease in the world. Currently, PD is incurable, and the diagnosis of PD mainly relies on clinical manifestations. The central pathological event in PD is the abnormal aggregation and deposition of misfolded α-synuclein (α-Syn) protein aggregates in the Lewy body (LB) in affected brain areas.
View Article and Find Full Text PDFDeveloping Allosteric Chaperones for -Associated Disorders-An Integrated Computational and Experimental Approach.
Int J Mol Sci
December 2024
Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, 08028 Barcelona, Spain.
Mutations in the gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are associated with Gaucher disease and increased risk of Parkinson's disease. This study describes the discovery and characterization of novel allosteric pharmacological chaperones for GCase through an innovative computational approach combined with experimental validation. Utilizing virtual screening and structure-activity relationship optimization, researchers identified several compounds that significantly enhance GCase activity and stability across various cellular models, including patient-derived fibroblasts and neuronal cells harboring mutations.
View Article and Find Full Text PDFA Global Perspective of -Related Parkinson's Disease: A Narrative Review.
Genes (Basel)
December 2024
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Parkinson's disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase () gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor and cognitive progression of the disease. The aim of this review is to summarize the literature data on the prevalence, type, and peculiarities of mutations in populations of different ethnic backgrounds.
View Article and Find Full Text PDFIncreased α-synuclein phosphorylation and oligomerization and altered enzymes in plasma of patients with Parkinson's disease.
Neuroscience
December 2024
Department of Neurobiology and National Clinical Research Center for Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing, China; Center of Parkinson's Disease, Beijing Institute for Brain Disorders, Beijing, China; Beijing Key Laboratory for Parkinson's Disease, Beijing, China. Electronic address:
The brain of patients with Parkinson's disease (PD) was characterized by increased phosphorylation and oligomerization of α-synuclein (α-syn) and altered activity of enzymes regulating α-syn phosphorylation and oligomerization. Whether increased α-syn phosphorylation and oligomerization as well as related enzyme changes can be detected in the plasma of PD patients remains unclear. Here, we showed that human α-syn proteins incubated in PD plasma formed more oligomerized α-syn (O-α-syn) and phosphorylated α-syn (pS-α-syn) than those in healthy control (HC) plasma.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!