The underlying molecular defects in Cutis Laxa Sybdromes can also be roughly divided in two groups, based on type of involved pathomechanism : defects in genes coding a « structural » ECM-component or in genes in which mutations can inborn errors of metabolism (IEM) presenting with Cutis Laxa. The exact way these divergent molecular lead to elastin abnormalities […]
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 […]
Dr. Thatjana Gardeitchik, MD (Nijmegen, the Netherlands) : Neurometabolic Defects in CL
/in Meetings, Events and Exhibitions, Mutations, News, Photos, Research, Research - Medicine - Genetics /by Marie-ClaudeThe underlying molecular defects in Cutis Laxa Sybdromes can also be roughly divided in two groups, based on type of involved pathomechanism : defects in genes coding a « structural » ECM-component or in genes in which mutations can inborn errors of metabolism (IEM) presenting with Cutis Laxa. The exact way these divergent molecular lead to elastin abnormalities […]
Prof. Dr. Uwe Kornak, MD (Göttingen, Germany): The Secretory Pathway, Glycosylation, and Cutis Laxa
/in Meetings, Events and Exhibitions, Mutations, News, Photos, Research, Research - Medicine - Genetics /by Marie-ClaudeSecreted 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 […]