Herimela Solomon-Degefa
A5061407861- Cell Adhesion Molecules Research
- Muscle Physiology and Disorders
- RNA Research and Splicing
- Connective tissue disorders research
- Hepatitis B Virus Studies
- Cardiomyopathy and Myosin Studies
- Hepatitis Viruses Studies and Epidemiology
- Cellular Mechanics and Interactions
- RNA and protein synthesis mechanisms
- Protease and Inhibitor Mechanisms
- Tissue Engineering and Regenerative Medicine
- Platelet Disorders and Treatments
- Hepatitis C virus research
University of Cologne
2019-2025
The clinical application of advanced next-generation sequencing technologies is increasingly uncovering novel classes mutations that may serve as potential targets for precision medicine therapeutics. Here, we show a deep intronic splice defect in the COL6A1 gene, originally discovered by applying muscle RNA patients with findings collagen VI–related dystrophy (COL6-RD), inserts an in-frame pseudoexon into mRNA, encodes mutant α1(VI) protein exerts dominant-negative effect on VI matrix...
Abstract Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting prominent symptoms and characterised by progressive muscle weakness, joint contractures respiratory insufficiency, to Bethlem dystrophy, milder typically recognised later at times resembling limb girdle intermediate phenotypes falling between UCMD dystrophy. Despite pathology features highly suggestive COL6-RD, some...
Collagen VI is a unique member of the collagen family. Its assembly complex multistep process and vulnerability manifested in muscular diseases. Mutations COL6A1, COL6A2, COL6A3 lead to severe Ullrich Congenital Muscular Dystrophy (UCMD) spectrum disease varying severity including milder Bethlem dystrophy. The recently identified dominant intronic mutation COL6A1 (c.930 + 189C > T) leads partial in-frame insertion pseudoexon between exon 11 12. translated into 24 amino acid residues...
Collagen VI is a ubiquitous heterotrimeric protein of the extracellular matrix (ECM) that plays an essential role in proper maintenance skeletal muscle. Mutations collagen lead to spectrum congenital myopathies, from mild Bethlem myopathy severe Ullrich muscular dystrophy. contains only short triple helix and consists primarily von Willebrand factor type A (VWA) domains, protein-protein interaction modules found range ECM proteins. Disease-causing mutations occur commonly VWA second domain...
Immunogenicity of a New Flaviviral-Based DNA Launched Suicidal Replicon for Protective Vaccination Against Hepatitis C
Abstract Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting prominent symptoms and characterised by progressive muscle weakness, joint contractures respiratory insufficiency, to Bethlem dystrophy, milder typically recognised later at times resembling limb girdle intermediate phenotypes falling between UCMD dystrophy. Despite immunohistochemical features highly suggestive COL6-RD,...