A5019095083- Cellular transport and secretion
- Lysosomal Storage Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Carbohydrate Chemistry and Synthesis
- Receptor Mechanisms and Signaling
- Glycosylation and Glycoproteins Research
- RNA regulation and disease
- Neuroscience and Neuropharmacology Research
- Nuclear Receptors and Signaling
- Cancer-related gene regulation
- Gastrointestinal Tumor Research and Treatment
- Adenosine and Purinergic Signaling
- Neurological diseases and metabolism
- Glycogen Storage Diseases and Myoclonus
- Advanced biosensing and bioanalysis techniques
- Polymer Surface Interaction Studies
- TGF-β signaling in diseases
- Biomedical Research and Pathophysiology
- Sphingolipid Metabolism and Signaling
- Advanced Biosensing Techniques and Applications
- Retinal Development and Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Neurological disorders and treatments
- Neuropeptides and Animal Physiology
National Human Genome Research Institute
2022-2024
National Institutes of Health
2022-2024
Research Network (United States)
2023-2024
Karolinska Institutet
2015-2023
Karolinska University Hospital
2013-2021
Science for Life Laboratory
2013-2016
Uppsala University
2013-2016
Abstract Background There is a need for biomarkers to support an accurate diagnosis of Parkinson’s disease (PD). Cerebrospinal fluid (CSF) has been successful biofluid finding neurodegenerative biomarkers, and modern highly sensitive multiplexing methods offer the possibility perform discovery studies. Using large-scale multiplex proximity extension assay (PEA) approach, we aimed discover novel diagnostic protein allowing discrimination PD from both controls atypical Parkinsonian disorders...
Abstract Background Alteration in glycosphingolipids (GSLs) Parkinson's disease (PD) still needs to be determined. Objectives We evaluated if PD subjects show abnormal GSLs levels compared healthy controls (HC) and correlate with clinical features. Methods analyzed glucosylceramide (GlcCer) plasma using two normal‐phase high‐performance liquid chromatography assays; clinico‐demographic data were extracted. Results Eighty 25 HCs analyzed. Levels of GlcCer, GD1b, Gb4, GalNAcGA1, b‐series...
Abstract Background Cognitive impairment is common in patients with PD. Core markers of Alzheimer's dementia have been related also to PD dementia, but no disease‐specific signature predict exists date. Objectives The aim this study was investigate CSF associated cognition early Methods A high‐throughput suspension bead array examined 216 proteins 74 the AETIONOMY project. function assessed Repeatable Battery for Assessment Neuropsychological Status, Montreal Assessment, and Mini‐Mental...
Receptor-receptor interactions are essential to fine tune receptor responses and new techniques enable closer characterization of the between involved proteins directly in plasma membrane. Fluorescence cross-correlation spectroscopy (FCCS), which analyses concurrent movement bound molecules with single-molecule detection limit, was here used to, live N2a cells, study Parkinson's disease (PD) associated orphan GPR37, its homologue GPR37L1, two splice variants dopamine 2 (D2R). An interaction...
The cellular heterogeneity seen in tumors, with subpopulations of cells capable resisting different treatments, renders single-treatment regimens generally ineffective. Accordingly, there is a great need to increase the repertoire drug treatments from which combinations may be selected efficiently target sets pathological processes, while suppressing emergence resistance mutations. In this regard, members TGF-β signaling pathway furnish new, valuable therapeutic targets. present work, we...
Biallelic mutations in <i>GBA1</i> cause the lysosomal storage disorder Gaucher disease, and carriers of variants have an increased risk Parkinson’s disease (PD). It is still unknown whether are also associated with other movement disorders. We present case a woman type 1 who developed acute dystonia parkinsonism at 35 years age during recombinant enzyme infusion treatment. She severe all extremities bilateral pill-rolling tremor that did not respond to levodopa Despite abrupt...
Genetic variants in the Beta-glucocerebrosidase gene (GBA1) is a known risk factor for Parkinson's disease. The GBA1 mutations L444P, N370S and many other have been shown to associate with disease populations diverse background. Some polymorphisms less pronounced effect, their pathogenicity has debated. We previously found associations E326K Sweden.In this study we used pyrosequencing genotype T369M variant large Swedish cohort consisting of 1,131 patients idiopathic disease, 1,594 control...
G-protein-coupled receptors (GPCRs) are commonly pharmacologically modulated due to their ability translate extracellular events intracellular changes. Previously, studies have mostly focused on protein-protein interactions, but the focus has now expanded also protein-lipid connections. GM1, a brain-expressed ganglioside known for neuroprotective effects, and GPR37, an orphan GPCR often reported as potential drug target diseases in central nervous system, been shown form complex. In this...
Abstract Biallelic mutations in GBA1 result Gaucher disease (GD), the inherited deficiency of glucocerebrosidase. Variants are also a common genetic risk factor for Parkinson (PD). Currently, some PD centers screen mutant alleles to stratify patients who may ultimately benefit from -targeted therapeutics. However, accurately detecting variants, especially recombinant resulting crossover between and its pseudogene, is challenging, impacting studies both GD -associated parkinsonism. Recently,...
ABSTRACT Background Mutations in the glucocerebrosidase gene ( GBA ) are a common genetic risk factor for Parkinson's disease (PD). N‐terminus part of less commonly found association with PD than those C‐terminus. Phenotypic characterization ‐related has been challenging, attributed to differential impact distinct mutations. Aim To provide phenotypic description two patients heterozygous mutation S107L. The S107L is located catalytic domain and not previously reported PD. Methods Motor...
Abstract Inducible pluripotent stem cells (iPSCs) derived from patient samples have significantly enhanced our ability to model neurological diseases. Comparative studies of dopaminergic (DA) neurons differentiated iPSCs siblings with Gaucher disease discordant for parkinsonism provides a valuable avenue explore genetic modifiers contributing GBA1 -associated in disease-relevant cells. However, such are often complicated by the inherent heterogeneity differentiation efficiency among iPSC...