Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Proteasom-assoziiertes Autoinflammations-Syndrome sind autosomal dominante oder rezessive oder digenische Erkrankungen, deren gemeinsame Ursache in der Funktionsstörung der Proteasomen liegt.
Proteasomen sind subzelluläre Strukturen, die unabhängig von den Lysosomen Proteine über den Ubiquitin-Weg abbauen. In Immunzellen werden über diesen Wen auch antigene prozessiert. Störungen der Proteasomen können deshalb zu Störungen der Immunantwort und zu autoinflammatorischen Prozessen führen.
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