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undergraduate thesis
Lizosomske bolesti nakupljanja
Zagreb: University of Zagreb, Faculty of Science, 2023. urn:nbn:hr:217:400519
Tkalčić, Magdalena
University of Zagreb
Faculty of Science
Department of Biology

Institutional repository: Repository of the Faculty of Science

Cite this document

Tkalčić, M. (2023). Lizosomske bolesti nakupljanja (Undergraduate thesis). Zagreb: University of Zagreb, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:217:400519

Tkalčić, Magdalena. "Lizosomske bolesti nakupljanja." Undergraduate thesis, University of Zagreb, Faculty of Science, 2023. https://urn.nsk.hr/urn:nbn:hr:217:400519

Tkalčić, Magdalena. "Lizosomske bolesti nakupljanja." Undergraduate thesis, University of Zagreb, Faculty of Science, 2023. https://urn.nsk.hr/urn:nbn:hr:217:400519

Tkalčić, M. (2023). 'Lizosomske bolesti nakupljanja', Undergraduate thesis, University of Zagreb, Faculty of Science, accessed 18 December 2024, https://urn.nsk.hr/urn:nbn:hr:217:400519

Tkalčić M. Lizosomske bolesti nakupljanja [Undergraduate thesis]. Zagreb: University of Zagreb, Faculty of Science; 2023 [cited 2024 December 18] Available at: https://urn.nsk.hr/urn:nbn:hr:217:400519

M. Tkalčić, "Lizosomske bolesti nakupljanja", Undergraduate thesis, University of Zagreb, Faculty of Science, Zagreb, 2023. Available at: https://urn.nsk.hr/urn:nbn:hr:217:400519

Metadata
TitleLizosomske bolesti nakupljanja
Title (english)Lysosomal storage diseases
AuthorMagdalena Tkalčić
MentorMaja Matulić (mentor)
GranterUniversity of Zagreb
Faculty of Science
(Department of Biology)
Zagreb
Defense date and country2023-09-08, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
Lizosomi su organeli uključeni u razgradnju tvari unutar stanice, a osim toga imaju bitnu ulogu u održavanju homeostaze. Razgradnja hranjivih tvari je složen proces u koji je uključeno oko 60 vrsta različitih enzima. Ako postoji greška i u jednom koraku procesa može doći do nakupljanja nerazgrađenih tvari što može poremetiti normalnu funkciju različitih tkiva i organa. Lizosomske bolesti nakupljanja su nasljedne bolesti i nastaju zbog mutacija u genima bitnim za sintezu enzima uključenih u razgradnju tvari. Mogu se podijeliti na nekoliko načina, a u ovome radu opisane su prema supstratu koji se nakuplja u stanici i prema vrsti enzima poremećene funkcije. Tehnike dijagnosticiranja i liječenja lizosomskih bolesti nakupljanja napredovale su posljednjih godina, a danas se baziraju na detekciji mutacija i razvoju genske terapije.
Abstract (english)
Lysosomes are organelles involved in the breakdown of substances inside the cell and play an important role in maintaining homeostasis. The breakdown of nutrients is a complex process involving about 60 different enzymes. If there is an error even in one step of the process, undegraded substances can accumulate, leading to disruption of the normal function of various tissues and organs. Lysosomal storage diseases are inherited diseases and are caused by mutations in genes essential for the synthesis of enzymes involved in the breakdown of different substances. They can be divided in several ways. In this thesis they are presented according to the substrate that accumulates in the cell and according to the enzyme affected. Techniques for diagnosing and treating lysosomal storage diseases have advanced a lot in the latest years, and today they are based on gene mutation detection and development of the gene therapy.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:217:400519
Study programmeTitle: Ecology
Study programme type: university
Study level: undergraduate
Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2023-09-12 11:25:32