Last Updated: 09/26/2026
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Found 83 publications
Clinically relevant AAV8- PEX1 gene therapy preserves retinal integrity and function long-term in a murine model of Zellweger spectrum disorder.
Journal: bioRxiv : the preprint server for biology
Published: May 25, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.
Journal: Journal of inherited metabolic disease
Published: September 03, 2025
Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders.
Journal: Frontiers in molecular neuroscience
Published: May 24, 2025
In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder.
Journal: Nature biomedical engineering
Published: February 23, 2025
Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder.
Journal: Journal of lipid research
Published: January 13, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
Journal: Molecular genetics and metabolism
Published: January 09, 2025
Loss of peroxisome function promotes oxidative stress-induced hematopoiesis.
Journal: Stem cells (Dayton, Ohio)
Published: July 16, 2024
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling.
Journal: Genetics in medicine open
Published: April 03, 2024
Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model.
Journal: Cell reports
Published: November 10, 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 05, 2023
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Journal: Journal of inherited metabolic disease
Published: May 11, 2023
Last Updated: 09/26/2026