A5103137542- Parkinson's Disease Mechanisms and Treatments
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Neurological disorders and treatments
- Nuclear Receptors and Signaling
- RNA regulation and disease
- Botulinum Toxin and Related Neurological Disorders
- Neurological diseases and metabolism
- Neonatal Health and Biochemistry
- Autophagy in Disease and Therapy
- Biomedical Research and Pathophysiology
- Sphingolipid Metabolism and Signaling
- Human Health and Disease
- Carcinogens and Genotoxicity Assessment
- Extracellular vesicles in disease
- Autism Spectrum Disorder Research
- Calcium signaling and nucleotide metabolism
- Neurological and metabolic disorders
- CRISPR and Genetic Engineering
- Neuroinflammation and Neurodegeneration Mechanisms
- Trigeminal Neuralgia and Treatments
- Nutrition, Genetics, and Disease
- Adenosine and Purinergic Signaling
- Banana Cultivation and Research
- Glycogen Storage Diseases and Myoclonus
First Pavlov State Medical University of St. Petersburg
2016-2025
Institute of Coal of the Siberian Branch of the RAS
2019
Siberian Branch of the Russian Academy of Sciences
2019
Vitebsk State Medical University
2016
Background: Mutations in the glucocerebrosidase (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes, encoding lysosomal enzyme (GCase) (LRRK2), respectively, are most common related to Parkinson's disease (PD). Recent data suggest a possible functional interaction between GCase LRRK2 their involvement sphingolipid metabolism. The aim of present study was describe clinical course evaluate activities concentrations blood patients with PD associated dual mutations p.N370S GBA1 p.G2019S...
ABSTRACT Introduction: Glucocerebrosidase 1 mutations, the most common genetic contributor to Parkinson's disease (PD), have been associated with decreased glucocerebrosidase enzymatic activity in PD patients mutations (glucocerebrosidase 1–PD). However, it is unknown whether this decrease leads lysosphingolipid accumulations. Methods: The levels of hexosylsphingosines, globotriaosylsphingosine, sphingomyelin, and sphingomyelin‐509 were measured dried blood spots from 1–PD (n = 23), sporadic...
<title>Abstract</title> Background Variants in the <italic>CTSB</italic> gene encoding lysosomal hydrolase cathepsin B (catB) are associated with increased risk of Parkinson’s disease (PD). However, neither specific variants driving these associations nor functional pathways that link catB to PD pathogenesis have been characterized. CatB activity contributes protein degradation and regulates signaling processes involved autophagy lysosome biogenesis. Previous <italic>in vitro</italic>...
Abstract Variants in the CTSB gene encoding lysosomal hydrolase cathepsin B (catB) are associated with increased risk of Parkinson’s disease (PD). However, neither specific variants driving these associations nor functional pathways that link catB to PD pathogenesis have been characterized. CatB activity contributes protein degradation and regulates signaling processes involved autophagy lysosome biogenesis. Previous vitro studies found can cleave monomeric fibrillar alpha-synuclein, a key...
Oxidative stress has been implicated in Parkinson's disease (PD). Genes involved PD, such as PRKN, PINK1 and PARK7, contribute to oxidative dopaminergic neurons. The X-linked G6PD gene encodes glucose 6-phosphate dehydrogenase, an important regulator of stress. Recent studies suggested that alpha-synuclein aggregates may impair activity neuron loss, mutations independently increase the risk PD. In this study, we aimed examine role common rare variants PD across six cohorts including 8,905...
Abstract LRRK2 variants are key genetic risk factors for Parkinson’s Disease (PD). We conducted a per-domain rare coding variant burden analysis, including 8,888 PD cases and 69,412 controls. In meta-analysis, the Kinase domain was strongly associated with (Exonic: P FDR = 1.61 × 10 −22 , Non-synonymous: 1.54 −23 CADD > 20: 3.09 −24 ). Excluding p.G2019S nullified this effect. Nominal associations were found in ANK Roc-COR domains, potentially protective variants, p.R793M p.Q1353K.
Several lysosomal genes are associated with Parkinson's disease (PD), yet the association between PD and ARSA , which encodes for enzyme arylsulfatase A, remains controversial. To evaluate rare variants PD. study possible of (minor allele frequency<0.01) in PD, we performed burden analyses six independent cohorts a total 5,801 patients 20,475 controls, using optimized sequence Kernel test (SKAT-O), followed by meta-analysis. We found evidence an functional four (P≤0.05 each) meta-analysis...
Mutations in the glucocerebrosidase gene (GBA) increase risk of Parkinson's disease (PD) by 6-10 times all populations and are associated with early-onset PD, development cognitive impairment presence psychotic disorders. At same time, polymorphic variants twofold PD were also described GBA gene.To estimate clinical features patients mutations gene.Evaluation motor, cognitive, emotional, autonomic dysfunctions (N370S, L444P) (E326K, T369M) was performed using scales.Patients (mGBA-PD),...
Parkinson's disease (PD) is a chronic progressive neurodegenerative that restricts activities of daily living. The prevalence PD and inevitable disability show the importance medical/social expertise (MSE) in system care for patients. Currently, MSE based on Hoehn Yahr scale indicates but does not evaluate severity symptoms. To assess restrictions living, one should consider non-motor symptoms PD, movement fluctuations dyskinesia, efficacy tolerability pharmacological treatment, use invasive...
Mutations in the GBA and SMPD1 genes, which lead to development of lysosomal storage diseases, are high risk factors for Parkinson's disease dementia with Lewy bodies. We screened mutations GALC CLN3 genes patients control subjects. A heterozygous mutation (del 1.02 kb) carrier clinical features unusual extrapyramidal syndrome was identified. role neurodegenerative disorders is discussed. Известно, что мутации в некоторых генах (GBA, SMPD1), приводящие к развитию лизосомных болезней...
Introduction. Coal heat power stations are characterized by severe hazardous eff ect of occupational environment on workers. Objective. To analyze chromosomal disorders in workers thermal plant working coal from Kuznetsk fi eld (West Siberia). Materials and methods. Th e authors studied level specter aberrations blood lymphocytes 185 Kemerovo 218 inhabitants the same location, not industrial enterprises (Kemerovo, Russia). For every individual, average number 200 metaphase plates high...
Abstract Previous studies have suggested that rare biallelic SYNJ1 mutations may cause autosomal recessive parkinsonism and Parkinson’s disease (PD). Our study explored the impact of variants in non-familial settings, including 8,165 PD cases, 818 early-onset (EOPD, <50 years) 70,363 controls. Burden meta-analysis using optimized sequence Kernel association test (SKAT-O) revealed an between nonsynonymous Sac1 domain (P fdr =0.040). Additionally, a focusing on patients with EOPD...
Introduction. Mutations in a GBA1 gene, which encodes lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). The pathogenesis of PD results from death dopaminergic neurons substantia nigra brain, is associated with aggregation α-synuclein protein. However, not all mutation carriers develop during their lifetime. aim this study was to evaluate GCase activity and levels CD45+ blood cells patients mutations (GBА1-PD),...