Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins to address our most pressing …

Parkinson's disease (PD) is a common and incurable neurodegenerative disorder that
arises from the loss of dopaminergic neurons in the substantia nigra and is mainly …

Unstable proteins are prone to form non-native interactions with other proteins and thereby
may become toxic. To mitigate this, destabilized proteins are targeted by the protein quality …

Missense variants that change the amino acid sequences of proteins cause one-third of
human genetic diseases. Tens of millions of missense variants exist in the current human …

Missense variants that change the amino acid sequences of proteins cause one third of
human genetic diseases. Tens of millions of missense variants exist in the current human …

Parkinson's disease (PD) is a debilitating neurodegenerative disorder characterized by the
progressive loss of dopaminergic neurons in the midbrain substantia nigra, resulting in …

Background Understanding the relationship between protein sequence and function is
crucial for accurate genetic variant classification. Variant effect predictors (VEPs) play a vital …

ARGONAUTE (AGO) proteins bind to small non-coding RNAs to form RNA-induced
silencing complexes. In the RNA-bound state, AGO is stable while RNA-free AGO turns over …

Mutations in the PINK1 and PRKN genes are the most frequent genetic cause of early-onset
Parkinson disease. The pathogenic p. R275W substitution in PRKN is the most frequent …

Mutations in the E3 ubiquitin ligase parkin cause a familial form of Parkinson's disease.
Parkin and the mitochondrial kinase PTEN-induced kinase 1 assure quality control of …