A novel cellular model for investigating experimental therapy in Alpha-1-antitrypsin deficiency

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F25%3A00085839" target="_blank" >RIV/00023001:_____/25:00085839 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
A novel cellular model for investigating experimental therapy in Alpha-1-antitrypsin deficiency
Original language description
Alpha-1-antitrypsin (A1AT) is a liver-secreted plasma serine protease inhibitor encodedby the SERPINA1 gene. Mutations in SERPINA1 lead to alpha-1-antitrypsin deficiency (AATD),a common genetic disorder affecting the lung and the liver. The most prevalent pathogenic variant,named Z allele (c.1096G>A; p.Glu366Lys), causes misfolding, polymerization and retention ofmutated A1AT in endoplasmic reticulum (ER) of hepatocytes. This results in hepatocellulardamage causing progressive liver disease. BRD4780 has shown therapeutic potential in severalproteinopathies by promoting degradation of misfolded proteins apparently through its interactionwith TMED9 (transmembrane P24 Trafficking Protein 9) positive cargo receptor-containingvesicles, where the protein folding quality control system is present. This study aimed toinvestigate the effect of BRD4780 on mutant Z-A1AT protein clearance using a novel cellularmodel of AATD.
Czech name
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Czech description
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Project
<a href="/en/project/LX22NPO5104" target="_blank" >LX22NPO5104: National Institute for Research of Metabolic and Cardiovascular Diseases</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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