welcome to oneEDSvoice
- a positively charged Ehlers Danlos Syndrome community.- join today!
- login
scientific articles
Met>Val Substitution in a Highly Conserved Region of the Pro-alpha(1) Collagen C-Propeptide Domain Causes Alternative Splicing and a Mild EDS/OI Phenotype
source: Journal of Medical Genetics
year: 2004
authors: Symoens S, Nuytinck L, Legius E, Malfait F, Coucke PJ, De Paepe A
summary/abstract:Type I procollagen is a fibrillar collagen consisting of two pro-a1(I) chains and one pro-a2(I) chain. This procollagen heterotrimer contains a central triple helical domain that is flanked by amino- and carboxy-terminal propeptides (N- and C-propeptides), which are cleaved off after assembly and secretion. The C-propeptides, involved in the formation of post-translational disulphide bonds, are responsible for the correct alignment of the three individual procollagen chains and direct chain–chain recognition.
organization: University Hospital GhentDOI: 10.1136/jmg.2003.014589
read more full text source
expertly curated content related to this topic
-
Forest Tennant, MD, DrPHForest Tennant is an American physicia...
-
Palpebral Fissure FindingPalpebral Fissure -Eliptical opening be...
-
Cervical Artery Dissection: An Atypical Presentation with Ehlers-Danlos-Like Collagen Pathology?The authors took skin biopsies of the ma...
-
Dr. Eric P. GallA co-founder of the University of Arizon...
-
The Coalition Against Pediatric Pain (TCAPP)The Coalition Against Pediatric Pain is ...
-
Acer Therapeutics Obtains Exclusive License to Celiprolol Pivotal Clinical Data from AP-HP“We have studied celiprolol for nearly...
-
Ehlers-Danlos Syndrome – A Reference Guide (The Hill Resource and Reference Guide)The Hill Resource and Reference Guide se...