ArticleIranian journal of child neurology2021
A Novel Mutation in PEX11β Gene.
Article in Iranian journal of child neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 3 citations in OpenAlex.
- PEX11β controls early neural progenitor fate through regulation of peroxisomal fission and lipid metabolism.Stem cell reports · 2026Article
- PEX11 mediates intralumenal vesicle formation in peroxisomes.Nature communications · 2026Article
- Modeling the cell biology of PEX11β deficiency during human neurogenesis.bioRxiv : the preprint server for biology · 2026Article
- Peroxisome Dysfunction and Steatotic Liver Disease.International journal of molecular sciences · 2025Review
- Mitochondrial and peroxisomal fission in cortical neurogenesis.The international journal of biochemistry & cell biology · 2025Review
- Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.BMC medical genomics · 2025Article
- Peroxisome dynamics and inter-organelle interactions in neuronal health and disease.Frontiers in molecular neuroscience · 2025Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
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Abstract
PEX11β ([OMIM] 614920) mutation causes an extremely rare subgroup of peroxisomal biogenesis disorders, with only six cases reported to date. In this article, we reported a patient with episodic migraine-like attacks, delirium, mood and behavior change, polyneuropathy, and history of congenital cataract. Whole exome sequencing showed novel c.743_744delTCinsA mutation in the exon 4 of the PEX11β gene. In contrast to previously reported patients, our case presented milder features and extended the spectrum of the clinical phenotype of this mutation. This study helps to extend the phenotype of this syndrome; besides, recognizing novel mutation variants will provide a better genotype-phenotype correlation and improve clinical clues.
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