Publications by authors named "Kulabukhova D"
Article Synopsis
- Recent studies suggest that there may be a connection between lysosomal storage disorders (LSDs) and symptoms of schizophrenia (SCZ), indicating that lysosomal dysfunction could play a role in SCZ development.
- The research involved analyzing lysosomal enzyme activities and alpha-synuclein levels in blood samples from patients with late-onset SCZ and comparing them to patients with Parkinson's disease and healthy controls.
- Significant differences were found, including decreased enzyme activity, higher concentrations of certain lysosphingolipids, and genetic variants linked to LSDs in early-onset SCZ patients, which may contribute to understanding the overlap between these conditions.
Article Synopsis
- Recent research indicates that specific variants of the LRRK2 gene may influence the function of a key lysosomal enzyme (GCase) and are linked to Parkinson's disease (PD) risk in a Russian population.
- The study involved sequencing the LRRK2 gene in 508 PD patients and 470 controls, revealing that variants p.M1646T and p.N2081D were significantly associated with increased PD risk.
- Additionally, carriers of the p.G2019S and p.N2081D variants showed elevated levels of a specific substrate (LysoGb3) and decreased activity of another enzyme (ASMase), suggesting a potential role of LRRK2 in sphingolipid metabolism alterations in PD.
Parkinson's disease (PD) is the second most common neurodegenerative disorder. Alpha-synuclein misfolding and aggregation resulting in neurototoxicity is a hallmark of PD. The prion properties of alpha-synuclein are still under discussion.
View Article and Find Full Text PDFParkinson's disease (PD) is the second most frequent neurodegenerative disorder. Impaired metabolism of alpha-synuclein (SNCA) and its aggregation are implicated in PD pathogenesis. SNCA has been identified as a highly significant genetic risk loci associated with the sporadic form of PD in across populations in GWAS and replicative studies.
View Article and Find Full Text PDFAlpha-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 lysosomal hydrolases are being altered in GBA-PD patients and are accompanied by an increase in alpha-synuclein oligomerization.
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