Bc. Petra Lysáková

Master's thesis

Studium stresu endoplazmatického retikula vyvolaného mutacemi v genu pro LDLR

Endoplasmic reticulum stress induced by LDLR mutations
Abstract:
Akumulace nesbalených či špatně sbalených proteinů v endoplazmatickém retikulu (ER) vede ke stresu organely a k aktivaci odpovědi na nesbalené proteiny (unfolded protein response, UPR). Low Density Lipoprotein receptor je glykoprotein rozpoznávající a vázající lipoproteinové částice. Mutace v genu pro LDLR jsou příčinou autosomálně dominantního onemocnění, familiární cholesterolemie. Tyto mutace se …more
Abstract:
Accumulation of misfolded proteins in the ER causes ER stress and activates a protective response known as the unfolded protein response (UPR). Low-Density Lipoprotein Receptor (LDLR) is a glycoprotein that recognizes cholesterol-rich LDL and mediates its endocytosis. The mutations in the gene encoding LDLR cause familial hypercholesterolemia, an autosomal dominant disease. These mutation are divided …more
 

Keywords

LDLR UPR genová exprese qPCR gene expression
 
Language used: Czech
Date on which the thesis was submitted / produced: 10. 5. 2017
Identifier: https://is.muni.cz/th/b2qxk/

Thesis defence

  • Date of defence: 19. 6. 2017
  • Supervisor: doc. RNDr. Lenka Fajkusová, CSc.

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Institution archiving the thesis and making it accessible: Masarykova univerzita, Přírodovědecká fakulta
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Masaryk University

Faculty of Science

Master programme / field:
Biology / Medical Genetics and Molecular Diagnostics

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