CUTIS LAXA : research

On this page you can find an overview of the CL research.

Prof. Dr. Uwe Kornak, MD (Göttingen, Germany): The Secretory Pathway, Glycosylation, and Cutis Laxa

Secreted proteins and membrane proteins have to pass through the secretory pathway, which is not only responsible for the transport to the correct cellular compartment, but also for the maturation and modification of these proteins. A central part of the secretory pathway is the Golgi compartment, which consists of several « pancake-like » membrane sacks (cisternae). One […]

Mrs Aude Beyens, MD (Ghent, Belgium): Structural defects of Connective Tissue Proteins and CL

Elastic fiber assembly, or elastogenesis, is a complex process that is precisely regulated in a spatiotemporal manner and depends on proper growth factor signaling and mechanosensing.   The underlying molecular defect in cutis laxa syndromes affect the synthesis and/or association associated extracellular matrix proteins.