Labs

Caldovic Laboratory

About the Lab

The Caldovic Lab, based at the Children’s National Research and Innovation Campus, studies the urea cycle — a metabolic pathway that detoxifies ammonia, a byproduct of protein breakdown and a potent neurotoxin, by converting it into urea for safe excretion.

We aim to advance understanding and treatment of urea cycle disorders through using functional testing and data mining to determine the pathogenicity of sequence variants in urea cycle genes, investigating how urea cycle gene expression responds to dietary protein intake, identifying biomarkers of ammonia-induced brain injury and exploring pharmacological strategies to prevent neurological damage.

  • Lab Focus Areas

    Urea cycle disorders

    Inborn errors of metabolism

    Variant science

    Regulation of gene expression

    Brain dysfunction due to hyperammonemia

  • Partnerships

    Integrated Biomedical Sciences PhD Program
    School of Medicine and Health Sciences
    The George Washington University

  • Contact

    Ljubica Caldovic, PhD Principal Investigator

Featured Publications

  • Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene

    Johannes Häberle, Marvin B Moore, Nantaporn Haskins, Véronique Rüfenacht, Dariusz Rokicki, Estela Rubio-Gozalbo, Mendel Tuchman, Nicola Longo, Mark Yandell, Ashley Andrews, Nicholas AhMew, Ljubica Caldovic 34510628 Human Mutation 42(12):1624-1636 2021

  • Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene

    Jang YJ, LaBella AL, Feeney TP, Braverman N, Tuchman M, Morizono H, Ah Mew N, Caldovic L Hum Mutat 39(4):527-536 (2018)

  • AMP-activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intake

    Heibel SK, McGuire PJ, Haskins N, Majumdar HD, Rayavarapu S, Nagaraju K, Hathout Y, Brown K, Tuchman M, Caldovic L J Inherit Metab Dis 42(6):1088-1096 (2019)

  • A zebrafish model of hyperammonemia

    Feldman B, Tuchman M, Caldovic L Mol Genet Metab 113(1-2):142-7 (2014)