Associated Papers
Screening for Mutations Causing ACOX2 Deficiency-associated Hypertransaminasemia in Patients with Cryptogenic Liver Injury.
Herraez E et al.
Journal of Clinical and Translational Hepatology, 2025
Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.
Clayton PT et al.
Journal of Inherited Metabolic Disease, 2025
Whole-exome sequencing for genetic diagnosis of idiopathic liver injury in children.
Lülecioğlu AA et al.
Journal of Cellular and Molecular Medicine, 2024
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia.
Alonso-Peña M et al.
Hepatology (baltimore, Md.), 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
35460704 (PubMed )
Supplement: mmc1.pdf
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Acox2 is a regulator of lysine crotonylation that mediates hepatic metabolic homeostasis in mice.
Zhang Y et al.
Cell Death & Disease, 2022
Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment.
Wanders RJA
Molecular and Cellular Probes, 2018
ACOX2 deficiency in primary malignant cardiac tumors.
Zhou X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.
Monte MJ et al.
Journal of Hepatology, 2017
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