ArticleAmerican journal of human genetics1998
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
37 citing papers in PubMed, 121 citations in OpenAlex.
- Article
- Hookworm infection modulates lung and intestinal transcriptomic responses to SARS-CoV-2 in Syrian hamsters.Frontiers in immunology · 2025Article
- Fluorescent fatty acid conjugates for live cell imaging of peroxisomes.Nature communications · 2024Article
- 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
- E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.Frontiers in physiology · 2020Review
- Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.Molecules and cells · 2018Review
- Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.Journal of medical case reports · 2017Article
- Peroxisomes in brain development and function.Biochimica et biophysica acta · 2016Review
- Peroxisome biogenesis and human peroxisome-deficiency disorders.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2016Review
- Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.Korean journal of pediatrics · 2016Article
- Deciphering Supramolecular Structures with Protein-Protein Interaction Network Modeling.Scientific reports · 2015Article
- DCA1 Acts as a Transcriptional Co-activator of DST and Contributes to Drought and Salt Tolerance in Rice.PLoS genetics · 2015Article
- Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders.Developmental biology · 2014Article
- Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import.The Journal of biological chemistry · 2014Article
- Different functions of the C3HC4 zinc RING finger peroxins PEX10, PEX2, and PEX12 in peroxisome formation and matrix protein import.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Genetic and dietary regulation of lipid droplet expansion in Caenorhabditis elegans.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.Journal of inherited metabolic disease · 2009Article
- Characterization of glycosomal RING finger proteins of trypanosomatids.Experimental parasitology · 2007Article
- Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.American journal of human genetics · 2005Article
- An Arabidopsis pex10 null mutant is embryo lethal, implicating peroxisomes in an essential role during plant embryogenesis.Plant physiology · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The peroxisome-biogenesis disorders (PBDs) are a group of genetically heterogeneous, lethal diseases that are characterized by neuronal, hepatic, and renal abnormalities; severe mental retardation; and, in their most severe form, death within the 1st year of life. Cells from all PBD patients exhibit decreased import of one or more classes of peroxisome matrix proteins, a phenotype shared by yeast pex mutants. We identified the human orthologue of yeast PEX10 and observed that its expression rescues peroxisomal matrix-protein import in PBD patients' fibroblasts from complementation group 7 (CG7). In addition, we detected mutations on both copies of PEX10 in two unrelated CG7 patients. A Zellweger syndrome patient, PBD100, was homozygous for a splice donor-site mutation that results in exon skipping and loss of 407 bp from the PEX10 open reading frame. A more mildly affected neonatal adrenoleukodystrophy patient was a compound heterozygote for a missense mutation in the PEX10 zinc-binding domain, H290Q, and for a nonsense mutation, R125ter. Although all three mutations attenuate PEX10 activity, the two alleles detected in the mildly affected patient, PBD052, encode partially functional PEX10 proteins. PEX10-deficient PBD100 cells contain many peroxisomes and import peroxisomal membrane proteins but do not import peroxisomal matrix proteins, indicating that loss of PEX10 has its most pronounced effect on peroxisomal matrix-protein import.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.