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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Molecular Determinants of Temperature-Sensitive Phenotypes.
Tripathi A et al.
Biochemistry, 2019
Peroxisomal protein PEX13 functions in selective autophagy.
Lee MY et al.
Embo Reports, 2017
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
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.
Hashimoto K et al.
Pediatric Research, 2005
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Suzuki Y et al.
Journal of Inherited Metabolic Disease, 2001
Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.
Imamura A et al.
Pediatric Research, 2000
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
Shimozawa N et al.
Human Molecular Genetics, 1999
[Clinical and molecular aspects of peroxisome-deficient disorders].
Suzuki Y et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1993
[Clinical biochemical and genetic aspects of peroxisome-deficient disorders].
Suzuki Y
No to Hattatsu = Brain and Development, 1992
Genetic and molecular bases of peroxisome biogenesis disorders.
Suzuki Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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