The best known function of mithocondria is energy production (ATP synthesis) via the respiratory chain. However, this organelle is also central in several metabolic processes like the tricarboxylic acid (TCA) cycle, the urea cycle and important for cellular stress response processes and programmed cell death. This presentation will focus on the clinical differences between and […]
https://www.cutislaxa.org/wp-content/uploads/2023/01/BJORN.jpg208121Marie-Claudehttp://www.cutislaxa.org/wp-content/uploads/2017/12/NEW-LOGO-CLI-4.pngMarie-Claude2022-12-27 12:05:512023-02-06 09:15:24Dr. Björn Fischer-Zirnsak (Berlin, Germany) : The Mitonchondrion and CL
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 […]
Dr. Björn Fischer-Zirnsak (Berlin, Germany) : The Mitonchondrion and CL
/in Meetings, Events and Exhibitions, Mutations, News, Photos, Research, Research - Medicine - Genetics /by Marie-ClaudeThe best known function of mithocondria is energy production (ATP synthesis) via the respiratory chain. However, this organelle is also central in several metabolic processes like the tricarboxylic acid (TCA) cycle, the urea cycle and important for cellular stress response processes and programmed cell death. This presentation will focus on the clinical differences between and […]
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 […]