Search Results - "Pchelina, Sofya"
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Cryo-electron microscopy of extracellular vesicles from cerebrospinal fluid
Published in PloS one (30-01-2020)“…Extracellular vesicles (EVs) are membrane-enclosed vesicles which play important role for cell communication and physiology. EVs are found in many human…”
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Dose-Dependent Alterations of Lysosomal Activity and Alpha-Synuclein in Peripheral Blood Monocyte-Derived Macrophages and SH-SY5Y Neuroblastoma Cell Line by upon Inhibition of MTOR Protein Kinase – Assessment of the Prospects of Parkinson’s Disease Therapy
Published in Biochemistry (Moscow) (01-07-2024)“…To date, the molecular mechanisms of the common neurodegenerative disorder Parkinson’s disease (PD) are unknown and, as a result, there is no neuroprotective…”
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Cryo-electron microscopy of adipose tissue extracellular vesicles in obesity and type 2 diabetes mellitus
Published in PloS one (24-02-2023)“…Extracellular vesicles (EVs) are cell-derived membrane vesicles which play an important role in cell-to-cell communication and physiology. EVs deliver…”
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Extracellular Vesicles Secreted by Adipose Tissue during Obesity and Type 2 Diabetes Mellitus Influence Reverse Cholesterol Transport-Related Gene Expression in Human Macrophages
Published in International journal of molecular sciences (01-06-2024)“…Obesity is a risk factor for type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD). Adipose tissue (AT) extracellular vesicles (EVs) could play a…”
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Mutation analysis of Parkinson's disease genes in a Russian data set
Published in Neurobiology of aging (01-11-2018)“…Common variants and risk factors related to familial and sporadic cases of Parkinson's disease (PD) in diverse populations have been identified at numerous…”
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Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations?
Published in Movement disorders (01-08-2022)Get full text
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Fraction of plasma exomeres and low-density lipoprotein cholesterol as a predictor of fatal outcome of COVID-19
Published in PloS one (09-02-2023)“…Transcriptomic analysis conducted by us previously revealed upregulation of genes involved in low-density lipoprotein particle receptor (LDLR) activity pathway…”
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Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity
Published in International journal of molecular sciences (29-07-2023)“…Mutations in the gene represent the major genetic risk factor for Parkinson's disease (PD). The lysosomal enzyme beta-glucocerebrosidase (GCase) encoded by the…”
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ABCA1 and ABCG1 DNA methylation in epicardial adipose tissue of patients with coronary artery disease
Published in BMC cardiovascular disorders (27-11-2021)“…Recent studies have focused on the potential role of epicardial adipose tissue (EAT) in the development of coronary artery disease (CAD). ABCA1 and ABCG1…”
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Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease
Published in International journal of molecular sciences (22-05-2023)“…Mutations in the gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), cause Gaucher disease (GD) and are the most common genetic risk factor for…”
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The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene
Published in Journal of integrative neuroscience (16-01-2024)“…Mutations in the glucocerebrosidase ( ) and leucine-rich repeat kinase 2 ( ) genes, encoding lysosomal enzyme glucocerebrosidase (GCase) and leucine-rich…”
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Downregulation of Exosomal hsa-miR-551b-3p in Obesity and Its Link to Type 2 Diabetes Mellitus
Published in Non-coding RNA (01-11-2023)“…Obesity is a significant risk factor for the development of type 2 diabetes mellitus (T2DM). Adipose tissue dysfunction can affect the pool of circulating…”
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Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing
Published in Biomedical reports (01-01-2021)“…Familial hypercholesterolemia (FH) is caused by mutations in various genes, including the LDLR, APOB and PSCK9 genes; however, the spectrum of these mutations…”
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FABP4 and omentin-1 gene expression in epicardial adipose tissue from coronary artery disease patients
Published in Genetics and molecular biology (01-01-2021)“…Omentin-1 and fatty acid-binding protein 4 (FABP4) are adipose tissue adipokines linked to obesity-associated cardiovascular complications. The aim of this…”
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Transcriptomic Profiles Reveal Downregulation of Low-Density Lipoprotein Particle Receptor Pathway Activity in Patients Surviving Severe COVID-19
Published in Cells (Basel, Switzerland) (10-12-2021)“…To assess the biology of the lethal endpoint in patients with SARS-CoV-2 infection, we compared the transcriptional response to the virus in patients who…”
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Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease
Published in Frontiers in aging neuroscience (15-05-2018)“…: Parkinson's disease (PD) is a complex disease with its monogenic forms accounting for less than 10% of all cases. Whole-exome sequencing (WES) technology has…”
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Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease?
Published in NPJ Parkinson's Disease (25-10-2024)“…Previous studies have established that rare biallelic SYNJ1 mutations cause autosomal recessive parkinsonism and Parkinson’s disease (PD). We analyzed 8165 PD…”
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Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia
Published in Metabolites (31-12-2023)“…Recent data described that patients with lysosomal storage disorders (LSDs) may have clinical schizophrenia (SCZ) features. Disruption of lipid metabolism in…”
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Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
Published in Journal of personalized medicine (01-10-2023)“…Here, we report the pediatric cases of sitosterolemia, a rare autosomal-recessive genetic disorder, characterized by high concentrations of plant sterols in…”
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Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic GBA1 Mutation Carriers
Published in Annaly kliničeskoj i èksperimentalʹnoj nevrologii (Online) (03-10-2024)“…Introduction. Mutations in a GBA1 gene, which encodes a lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for…”
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