M. A. Nikolaev

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A link between lysosomal storage diseases (LSDs) and neurodegenerative disorders associated with accumulation of presynaptic protein alpha-synuclein has been shown. Particularly, Gaucher disease (GD) patients with a deficiency of the lysosomal enzyme glucocerebrosidase (GBA) and carriers of GBA mutations are at increased risk of Parkinson's disease (PD). It(More)
SNCA (rs356219) Total 224 308 (GG þ AG vs AA) 1.57 (1.21–2.04) 0.01 AA 87 (38.8) 154 (50) AG 107 (47.8) 126 (40.9) GG 30 (13.4) 28 (9.1) A allele 281 (62.7) 434 (70.4) (G vs A) 1.42 (1.17–1.72) 0.008 G allele 167 (37.3) 182 (29.6) MAPT (rs1052553) Total 227 284 (AA vs AG þ GG) 1.70 (1.24–2.33) 0.01 AA 180 (79.2) 197 (69.2) AG 41 (18) 82 (28.9) GG 6 (2.8) 5(More)
Alpha-synuclein oligomerization plays a key role in the development of Parkinson's disease (PD). Being the most common genetic contributor to PD, glucocerebrosidase 1 (GBA) mutations have been associated with decreased GBA enzymatic activity in PD patients with mutations in the GBA gene (GBA-PD). However, it is unknown whether the activities of other(More)
High risk of macrovascular complications in patients with type 2 diabetes mellitus (T2DM) is caused by insulin resistance and atherogenic dyslipidemia that may be genetically determined. The aim of this study was to assess the association of polymorphic genetic variants APOA5 (S19W/rs3135506), CETP (Taq1B/rs708272), PON1 (Q192R /rs662) and PPARG (Pro12Ala(More)
Impaired metabolism of α-synuclein (SNCA) and its aggregation are key molecular events underlying Parkinson’s disease (PD). Emerging data show that there is a connection between PD and the gene locus containing the SNCA gene. Meta-analyses have demonstrated a highly significant PD connection with single nucleotide polymorphisms (SNPs) rs356165 (A/G) and(More)
Tissue specific expression of genes encoding cholesterol transporters ABCA1 and ABCG1 as well as genes encoding the most important transcriptional regulators of adipogenesis - LXRa, LXRb, PPARg and RORa has been investigated in intraabdominal adipose tissue (IAT) samples.A direct correlation between the content of ABCA1 and ABCG1 proteins with RORa protein(More)
Impaired metabolism of alpha-synuclein (SNCA) and its aggregation are now implicated in the pathogenesis of Parkinson's disease (PD). Previous studies have found association between PD and gene locus, containing the SNCA gene. Meta-analysis have shown high significant association of single nucleotide polymorphisms (SNPs) rs356165 (A/G) and rs356219 (A/G) in(More)
Mutations in the GBA and SMPD1 genes, which lead to the development of lysosomal storage diseases, are high risk factors for Parkinson's disease and dementia with Lewy bodies. We screened the mutations in the GALC and CLN3 genes in patients with Parkinson's disease and control subjects. A heterozygous CLN3 mutation (del 1.02 kb) carrier with clinical(More)
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