Ljubica Caldovic

Functional Profiling of 2,193 ASS1 Missense Variants: Insights into Variant Pathogenicity and Epistatic Interactions in Citrullinemia Type I

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

Nonsense-associated alternative splicing as a putative reno-protective mechanism in Pkhd1cyli/Pkhd1cyli mutant mice

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 functional impact of 1,570 SNP-accessible missense variants in human OTC

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.

AMPK Signaling Regulates Expression of Urea Cycle Enzymes in Response to Changes in Dietary Protein Intake

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.

Impaired ureagenesis due to arginine-insensitive N-acetylglutamate synthase

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.