Associated Papers
Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
Yalçınkaya B et al.
Molecular Syndromology, 2024
Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report.
Huang Y et al.
Translational Pediatrics, 2024
Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.
Judy RM et al.
Cells, 2022
PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome.
He Y et al.
Translational Pediatrics, 2021
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency.
Lotz-Havla AS et al.
Frontiers in Genetics, 2021
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
Furuki S et al.
The Journal of Biological Chemistry, 2006
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.
Weller S et al.
American Journal of Human Genetics, 2005
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Matsumoto N et al.
American Journal of Human Genetics, 2003
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