Associated Papers
Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.
Gomez VA et al.
Disease Models & Mechanisms, 2025
Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in Drosophila.
Gomez VA et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
Gootjes J et al.
Pediatric Research, 2004
A novel pex2 mutant: catalase-deficient but temperature-sensitive PTS1 and PTS2 import.
Akiyama N et al.
Biochemical and Biophysical Research Communications, 2002
Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder.
Fujiwara C et al.
The Journal of Biological Chemistry, 2000
Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders.
Osumi T et al.
Cell Biochemistry and Biophysics, 2000
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
Shimozawa N et al.
Journal of Medical Genetics, 1999
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.
Jaeken J et al.
American Journal of Human Genetics, 1998
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