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Title: Epigenetic mechanisms of gene function control in patients with Gaucher disease

Author:

Pawliński, Łukasz

Date:

2023

Type:

Praca doktorska

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.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree grantor:

Rada Dyscypliny Nauki medyczne

Promoter:

Kieć-Wilk, Beata

Date issued:

2022

Identifier:

oai:dl.cm-uj.krakow.pl:5025

Call number:

ZB-137576

Language:

pol; eng

Access rights:

tylko w bibliotece

Subject and keywords:

Gaucher disease microRNA epigenetics biomarkers apoptosis

Object collections:

Last modified:

Feb 6, 2024

In our library since:

Feb 6, 2024

Number of object content hits:

0

Number of object content views in PDF format

0

All available object's versions:

http://dl.cm-uj.krakow.pl:8080/publication/5026

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Edition name Date
ZB-137576 Feb 6, 2024

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