Cystic fibrosis (CF) is a lethal genetic disease caused by mutations in the chloride ion
channel cystic fibrosis transmembrane conductance regulator (CFTR). Class-II mutants of …

The question how proteins fold is especially pointed for large multi-domain, multi-spanning
membrane proteins with complex topologies. We have uncovered the sequence of events …

Variants in the cystic fibrosis transmembrane conductance regulator gene (CFTR) result in
cystic fibrosis–a lethal autosomal recessive disorder. Missense variants that alter a single …

Genetic variation in alpha-1 antitrypsin (AAT) causes AAT deficiency (AATD) through liver
aggregation-associated gain-of-toxic pathology and/or insufficient AAT activity in the lung …

Introduction Cystic fibrosis (CF) is a genetic disease characterized by thick and sticky mucus
accumulation, which may harm numerous internal organs. Various variables such as gene …

We have developed a machine learning (ML) approach using Gaussian process (GP)-based
spatial covariance (SCV) to track the impact of spatial-temporal mutational events driving …

The root cause of cystic fibrosis (CF), the most common life-shortening genetic disease in
the Caucasian population, is the loss of function of the CFTR protein, which serves as a …

Genetic variation in human populations can result in the misfolding and aggregation of
proteins, giving rise to systemic and neurodegenerative diseases that require management …

To understand mechanistically how the protein fold is shaped by therapeutics to inform
precision management of disease, we developed variation-capture (VarC) mapping. VarC …

Cystic Fibrosis (CF) is a genetic disease caused by mutations in the gene encoding the
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Currently, more …