Ljubica Caldovic

The paper functionally profiles 2193 ASS1 missense variants to determine their pathogenicity and epistatic interactions in Citrullinemia Type I.

The paper identifies a frameshift mutation in Pkhd1 causing a cystic liver phenotype in mice and shows alternative splicing leads to reduced Pkhd1 protein levels and attenuated renal cystic disease.

The paper develops a high-throughput functional assay to assess the impact of 1,570 OTC missense variants, improving variant interpretation using ACMG/AMP guidelines.

The paper identifies AMPK signaling as a regulator of urea cycle enzyme expression in response to dietary protein intake changes in mice and human hepatocytes.

The paper investigates the role of L-arginine in NAGS activation and ureagenesis by studying NAGS knockout mice and a human patient with a related mutation.