ArticleAmerican journal of human genetics1999
PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 69 citations in OpenAlex.
- Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.Autophagy · 2026Review
- Modelling Peroxisomal Disorders in Zebrafish.Cells · 2025Review
- Modulation of peroxisomal import by the PEX13 SH3 domain and a proximal FxxxF binding motif.Nature communications · 2024Article
- A Systematic Compilation of Human SH3 Domains: A Versatile Superfamily in Cellular Signaling.Cells · 2023Review
- Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.Orphanet journal of rare diseases · 2022Article
- Beth Levine's Legacy: From the Discovery of BECN1 to Therapies. A Mentees' Perspective.Frontiers in cell and developmental biology · 2022Review
- Moments in autophagy and disease: Past and present.Molecular aspects of medicine · 2021Review
- Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Mendelian neurodegenerative disease genes involved in autophagy.Cell discovery · 2020Review
- Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.Molecules and cells · 2018Review
- Peroxisomal protein PEX13 functions in selective autophagy.EMBO reports · 2017Article
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
- A viable Arabidopsis pex13 missense allele confers severe peroxisomal defects and decreases PEX5 association with peroxisomes.Plant molecular biology · 2014Article
- The biogenesis protein PEX14 is an optimal marker for the identification and localization of peroxisomes in different cell types, tissues, and species in morphological studies.Histochemistry and cell biology · 2013Article
- PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress.Disease models & mechanisms · 2011Article
- Peroxisomes in zebrafish: distribution pattern and knockdown studies.Histochemistry and cell biology · 2010Article
- alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders.Journal of neuroscience research · 2010Article
- Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.American journal of human genetics · 2005Article
- Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype.Molecular and cellular biology · 2003Article
- Multiple distinct targeting signals in integral peroxisomal membrane proteins.The Journal of cell biology · 2001Article
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
The peroxisome-biogenesis disorders (PBDs) are a genetically and phenotypically diverse group of diseases caused by defects in peroxisome assembly. One of the milder clinical variants within the PBDs is neonatal adrenoleukodystrophy (NALD), a disease that is usually associated with partial defects in the import of peroxisomal matrix proteins that carry the type 1 or type 2 peroxisomal targeting signals. Here, we characterize the sole representative of complementation group 13 of the PBDs, a patient with NALD (patient PBD222). Skin fibroblasts from patient PBD222 display defects in the import of multiple peroxisomal matrix proteins. However, residual matrix-protein import can be detected in cells from patient PBD222, consistent with the relatively mild phenotypes of the patient. PEX13 encodes a peroxisomal membrane protein with a cytoplasmically exposed SH3 domain, and we find that expression of human PEX13 restores peroxisomal matrix-protein import in cells from patient PBD222. Furthermore, these cells are homozygous for a missense mutation at a conserved position in the PEX13 SH3 domain. This mutation attenuated the activity of human PEX13, and an analogous mutation in yeast PEX13 also reduced its activity. The mutation was absent in >100 control alleles, indicating that it is not a common polymorphism. Previous studies have demonstrated extragenic suppression in the PBDs, but the phenotypes of patient PBD222 cells could not be rescued by expression of any other human PEX genes. Taken together, these results provide strong evidence that mutations in PEX13 are responsible for disease in patient PBD222 and, by extension, in complementation group 13 of the PBDs.
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