Cholesterol is the most considerable member of a family of polycyclic compounds
understood as sterols, and represents an amphipathic molecule, such as phospholipids …

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 …

Niemann–Pick Type C (NPC) represents an autosomal recessive disorder with an incidence
rate of 1 in 150,000 live births, classified within lysosomal storage diseases (LSDs). The …

Although the impact of genome variation on the thermodynamic properties of function on the
protein fold has been studied in vitro, it remains a challenge to assign these relationships …

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 …

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 …

Proteostasis deficiency in mutated ion channels leads to a variety of ion channel diseases
that are caused by excessive endoplasmic reticulum-associated degradation (ERAD) and …

To understand the impact of epigenetics on human misfolding disease, we apply Gaussian-
process regression (GPR) based machine learning (ML)(GPR-ML) through variation spatial …

Niemann-Pick disease type C is a rare, fatal neurodegenerative disorder characterized by
massive intracellular accumulation of cholesterol. In most cases, loss-of-function mutations …