On the linkage of thermodynamics and pathogenicity

P Pandey, S Ghimire, B Wu, E Alexov - Current Opinion in Structural …, 2023 - Elsevier
This review outlines the effect of disease-causing mutations on proteins' thermodynamics.
Two major thermodynamics quantities, which are essential for structural integrity, the folding …

[图书][B] Entwicklung und validierung neuer nicht-invasiver diagnosesysteme für Mucociliary Clearance Disorders (MCCD)

V Mete - 2023 - search.proquest.com
Mukoviszidose (CF) ist die häufigste genetische Krankheit in der kaukasischen
Bevölkerung. Durch die eingeschränkte Funktion des epithelialen Chloridkanals CFTR wird …

Alternate channel therapy for cystic fibrosis lung disease

L Delpiano - 2023 - theses.ncl.ac.uk
Cystic Fibrosis (CF) is the most common, severe, autosomal recessive disease in the
Caucasian population, and is caused by mutations in the cystic fibrosis transmembrane …