Associated Papers
Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.
Su L et al.
Molecular Genetics & Genomic Medicine, 2024
PEX13 prevents pexophagy by regulating ubiquitinated PEX5 and peroxisomal ROS.
Demers ND et al.
Autophagy, 2023
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P et al.
Orphanet Journal of Rare Diseases, 2022
Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.
Soliman K et al.
Scientific Reports, 2018
Peroxisomal protein PEX13 functions in selective autophagy.
Lee MY et al.
Embo Reports, 2017
A viable Arabidopsis pex13 missense allele confers severe peroxisomal defects and decreases PEX5 association with peroxisomes.
Woodward AW et al.
Plant Molecular Biology, 2014
Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.
Krause C et al.
Human Molecular Genetics, 2013
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Rational diagnostic strategy for Zellweger syndrome spectrum patients.
Krause C et al.
European Journal of Human Genetics : Ejhg, 2009
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
Krause C et al.
Human Mutation, 2006
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