Results 191 to 200 of about 84,505 (291)
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Sepsis‐induced acute lung injury (ALI) remains challenging to treat, with conventional anti‐inflammatory therapies offering limited efficacy. The lymphatic system is crucial for removing edema and inflammatory mediators, and its impairment can exacerbate lung injury.
He Wang +4 more
wiley +1 more source
Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers
Movement Disorders, EarlyView.Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes +7 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik +5 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland +8 more
wiley +1 more source
Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)
ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang +3 more
wiley +1 more source
Movement Disorders, EarlyView.Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen +27 more
wiley +1 more source
Development of Organelle Replacement Therapy Using a Stearyl-Polyhistidine Peptide against Lysosomal Storage Disease Cells. [PDF]
Molecules, 2019 Hayashi T +3 more
europepmc +1 more source
Movement Disorders, EarlyView.Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) kinase inhibition is a promising therapeutic strategy for Parkinson's disease (PD), but the functional impact of Asian‐prevalent LRRK2 p.G2385R and p.R1628P variants remains unclear. Robust patient stratification and target engagement markers are needed for global LRRK2‐targeted trials ...
Tzi Shin Toh +17 more
wiley +1 more source
Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis. [PDF]
Indian J Hematol Blood Transfus, 2018 Vasei M, Abolhasani M, Safavi M.
europepmc +1 more source