A5005071839- Parkinson's Disease Mechanisms and Treatments
- Nuclear Receptors and Signaling
- Genetic Associations and Epidemiology
- Stress Responses and Cortisol
- Genetic Neurodegenerative Diseases
- Mental Health Research Topics
- Neurological diseases and metabolism
- Neurological disorders and treatments
- RNA regulation and disease
- Tryptophan and brain disorders
- Cardiomyopathy and Myosin Studies
- Nerve injury and regeneration
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Circadian rhythm and melatonin
- Renin-Angiotensin System Studies
- Genetics and Neurodevelopmental Disorders
- Memory and Neural Mechanisms
- Bioinformatics and Genomic Networks
- Amyotrophic Lateral Sclerosis Research
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Forensic and Genetic Research
- Diet and metabolism studies
Kurchatov Institute
2014-2025
Institute of Molecular Genetics
2015-2024
Russian Academy of Sciences
2011-2023
Broad Institute
2021-2023
Czech Academy of Sciences, Institute of Molecular Genetics
2023
Research Centre for Medical Genetics
2021
Harvard University
2021
Concert Pharmaceuticals (United States)
2021
Massachusetts General Hospital
2021
Pirogov Russian National Research Medical University
2018
We describe a unique six-generation, highly consanguineous family originating from an isolated mountainous village in the Russian province of Daghestan. Three separate clinical phenotypes progressive muscular dystrophy were identified this large family. Seven patients developed classical limb-girdle variant (LGMD), with disease onset at 15-30 years and loss ambulation within 25-year course. The second group included three slowly distal myopathy first manifested late teens confined to tibial...
Parkinson’s disease (PD) is the one of most widespread neurodegenerative pathologies. Because impossibility studying endogenous processes that occur in brain patients with PD presymptomatic stage, mechanisms trigger remain unknown. Thus, identification play an important role early stages these extremely difficult. In this context, we performed a whole-transcriptome analysis peripheral blood untreated stage 1 (Hoehn-Yahr scale). We demonstrated significant change levels transcripts included...
The reduced expression of the HCN1 ion channel in somatosensory cortex (SSC) and mesolimbic dopamine deficiency are thought to be associated with genesis spike-wave discharges (SWDs) comorbid depression WAG/Rij rat model absence epilepsy. This study aimed investigate whether maternal methyl-enriched diet (MED), which affects DNA methylation, can alter DNMT1, HCN1, TH gene modify seizures offspring. mothers were fed MED (choline, betaine, folic acid, vitamin B12, L-methionine, zinc) or a...
Goal. Hypertrophic cardiomyopathy (HCM) is one of the most prevalent myocardial diseases with a population frequency 1:500—1:200. HCM characterized by severe left ventricular hypertrophy (LVH), sometimes accompanied outflow tract obstruction. Clinical manifestations range from minimal dysfunction to progressive heart failure (HF) and sudden cardiac death (SCD). This disease significant genetic heterogeneity, moreover 60—70% pathogenetically variants identified in patients residing...
Clinical studies have shown the similarity of spectrum physiological effects Selank and classical benzodiazepines, such as diazepam phenazepam. These data suggest that there is a similar basis their mechanism action. To test this hypothesis we studied effect GABA on expression genes involved in neuroreсeption neurotransmission. We analyzed 84 (e.g., major subunit receptor, transporters, ion channels, dopamine serotonin receptors) frontal cortex rats 1 3 hours after administration or (300...
Abstract Valosin-containing human protein (VCP) or p97 performs enzyme functions associated with the maintenance of homeostasis and control quality. Disruption its normal functioning might be development Parkinson’s disease (PD). Tissues mice toxin-induced presymptomatic early symptomatic stages PD, as well 52 treated untreated patients newly diagnosed PD nine a “predicted” form were investigated. Significant changes in Vcp gene expression observed almost all studied mouse tissues. A...
Abstract Background One of the causes Parkinson's disease is mutations in PARK2 gene. Deletions and duplications single exons or exon groups account for a large proportion gene mutations. Direct detection these can be used diagnosis disease. Methods To detect mutations, we developed an effective technique based on real-time TaqMan PCR system, which allows us to evaluate copynumbers by comparing intensity amplification signals from some this with that β-globin (the internal control). Results...
Natural regulatory peptides are biologically active compounds that produced by various cells and provide a link among the main systems of body. The field research into biologic activity endogenous is extremely vast. These affect cardiovascular, immune, reproductive, endocrine, digestive, other systems, alter energy metabolism, especially effective in regulation central nervous system. Despite wide range preventive therapeutic effects natural proteins, their application clinical practice...
Spinocerebellar ataxias (SСAs) are a highly heterogeneous group of inherited neurological disorders. The symptoms ataxia vary in individual patients and even within the same SCA subtype. A study four-generation family with autosomal dominant (AD) non-progressive mild was conducted. genotyping this revealed no frequent pathogenic mutations. So objective to identify genetic causes disease technology whole-exome sequencing (WES).WES, candidate variant analysis further Sanger sequencing, mRNA...
The sequence of the first hypervariable segment (HVS-I) mitochondrial DNA (mtDNA) was determined in 251 individuals from three eastern Slavonic populations, two Russian and one Belorussian. Within HVS-I, 78 polymorphic positions were revealed. Within-population diversity HVS-I varies slightly among samples; its estimates do not differ strongly those for European populations. Haplotype populations calculated this study is 0.949; mean pairwise differences estimate 3.59. To assign mtDNA...
Background: Parkinson's disease (PD) is a complex with its monogenic forms accounting for less than 10% of all cases. Whole-exome sequencing (WES) technology has been used successfully to find mutations in large families. However, because the late onset disease, only small families and unrelated patients are usually available. WES conducted such cases yields number candidate variants. There currently imperfect software tools that allow pathogenicity variants be evaluated. Objectives: We...
Mutations in the GBA1 gene represent major genetic risk factor for Parkinson’s disease (PD). The lysosomal enzyme beta-glucocerebrosidase (GCase) encoded by participates both endolysosomal pathway and immune response. Disruption of these mechanisms is involved PD pathogenesis. However, molecular associated with mutations (GBA-PD) are unknown today particular due to partial penetrance variants PD. modifiers have not been elucidated. We characterized transcriptomic profiles cells from...
We studied the possible effects of climatic-geographic factors on world distribution mutant allele for chemokine receptor gene <i>CCR5</i>, which has a 32-bp deletion (CCR5Δ32) preventing cell invasion by primary transmitting strain HIV-1. New data <i>CCR5</i> polymorphisms in Russian, Ukrainian, and Moldavian populations are presented. All available CCR5Δ32 frequencies Old World (number n = 77) were used construction geographical map to analyze correlations between...
A PARK8 form of Parkinson's disease (PD) is caused by a novel gene, leucine‐rich repeat kinase 2 ( LRRK2 ), and single mutation G2019S was found in proportion ‐associated cases diverse ethnic origins. We performed the analysis 304 Russian patients with PD, including 291 sporadic 13 autosomal dominant cases. The frequency 0.7% amongst (2/291) 7.7% familial PD (1/13). also three unaffected relatives absent 700 control chromosomes. One patient carrying earlier to have an additional mutation,...