Susan Weiss Liebman

FIND: a software tool for identifying population-enriched pathogenic variants in gnomAD

FIND identifies population-enriched pathogenic variants in gnomAD by comparing frequencies across ancestry groups, revealing known and novel variants in specific populations.

Deletion of the Saccharomyces cerevisiae RACK1 homolog, ASC1, enhances autophagy and counteracts TDP-43 toxicity

This paper shows that deleting ASC1 in yeast reduces TDP-43 toxicity by enhancing autophagy, rather than through polysome sequestration, while FUS toxicity remains unaffected.

A model of inborn metabolism errors associated with adenine amyloid-like fiber formation reduces TDP-43 aggregation and toxicity in yeast

The paper investigates how a yeast model of inborn metabolism errors affects TDP-43 aggregation and toxicity, finding that it shifts aggregates toward an amyloid-like state while reducing toxicity.

Interactions between non-prion and prion domains of Rnq1 direct formation of amyloid vs liquid-like aggregates and create transmission barriers

This paper investigates how a mutation in the non-prion domain of Rnq1 affects prion transmission and aggregation properties, showing it creates barriers to prion propagation and promotes liquid-like droplet formation.

Calcium-responsive transactivator (CREST) toxicity is rescued by loss of PBP1/ATXN2 function in a novel yeast proteinopathy model and in transgenic flies

The paper shows that CREST toxicity in yeast and flies is reduced by PBP1/ATXN2 deletion, suggesting ATXN2 as a therapeutic target for ALS.