@misc{Pawliński_Łukasz_Epigenetic_2022,
 author={Pawliński, Łukasz},
 address={Kraków},
 howpublished={online},
 year={2022},
 school={Rada Dyscypliny Nauki medyczne},
 language={pol; eng},
 abstract={Gaucher disease (GD) is one of the congenital, lysosomal storage disorders caused by glucocerebroside accumulation in macrophages, associated with a mutation in the lysosomal glucocerebrosidase gene. In addition to cellular damage caused by glucocerebroside accumulation, abnormal autophagy, oxidative stress, and increased apoptosis have been described in recent years, suggesting the existence of new, potentially important and specific biomarkers that would allow more accurate monitoring of the disease. The knowledge of post-transcriptional changes in the regulation of gene expression regulated by microRNAs, that may affect the activity of some lysosomal enzymes (such as glucocerebrosidase), is also expanding. The analysis of numerous elements of GD etiopathogenesis makes up the group of papers included in this dissertation. In its individual parts, the protein profile of potential therapeutic targets and/or biomarkers for disease monitoring was evaluated. The expression of microRNAs as post-translational regulators of genes was studied, and metabolic pathways were analysed for their activity in GD. The presented results may be a basis for further analysis and search for novel therapies or biomarkers in patients with GD and perhaps in the future they will be extrapolated to other storage diseases.},
 title={Epigenetic mechanisms of gene function control in patients with Gaucher disease},
 type={Praca doktorska},
 keywords={Gaucher disease, microRNA, epigenetics, biomarkers, apoptosis},
}