Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8

• Autoři: KANDEROVA V.; GROMBIRIKOVA H.; ZENTSOVA I.; RÉBLOVÁ Kamila; KLOCPERK A.; FEJTKOVA M.; BLOOMFIELD M.; RAVCUKOVA B.; KALINA T.; FREIBERGER Tomáš; SEDIVA A.
• Rok publikování: 2019
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: Haematologica
• Fakulta / Pracoviště MU: Lékařská fakulta
• www: http://www.haematologica.org/content/haematol/104/1/e32.full.pdf
• Doi: http://dx.doi.org/10.3324/haematol.2018.201673
• Klíčová slova: ACTIVATION
• Popis: Caspase-8 is a member of the aspartate-specific cysteine protease family that is typically synthetized as an inactive zymogen and activated upon an appropriate stimulus. Caspase-8 plays an essential role in apoptotic signal transduction from the death receptor. Recruitment of procaspase-8 into the death signaling complex leads to its dimerization, autoproteolytic cleavage and formation of a highly active heterotetramer. Caspase-8 subsequently activates caspase-3, thereby initiating the proteolytic pathway, and ultimately resulting in the apoptotic disassembly of the cell.1 Additionally, caspase-8 is also essential for various immune processes, such as lymphocyte activation, inflammasome regulation and cytokine production

Související projekty

• Určení genových oblastí náchylných ke vzniku mutací ovlivňujících sestřih mRNA