ReviewJournal of inherited metabolic disease2001
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.
Review in Journal of inherited metabolic disease, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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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.
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Who cites it
8 citing papers in PubMed, 23 citations in OpenAlex.
- Genome-Wide Association Identifies Risk Pathways for SAPHO Syndrome.Frontiers in cell and developmental biology · 2021Article
- The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Article
- RNA interference screen to identify genes required for Drosophila embryonic nervous system development.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- Proteomics of the peroxisome.Biochimica et biophysica acta · 2006Review
- Identification of a novel Drosophila gene, beltless, using injectable embryonic and adult RNA interference (RNAi).BMC genomics · 2003Article
- Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides.Journal of inherited metabolic disease · 2003Article
- A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.American journal of human genetics · 2002Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peroxisome biogenesis disorders (PBDs) are severe autosomal recessive neurological diseases caused by a defect of peroxisomal assembly factors. Zellweger syndrome, the most severe phenotype, is characterized by hypotonia, psychomotor retardation and neuronal migration disorder. Neonatal adrenoleukodystrophy and infantile Refsum disease are milder phenotypes of this disease. Thirteen complementation groups have been established since the genetic heterogeneity of PBDs was elucidated in 1988. Eleven genes for PBDs have been identified either by a functional complementation cloning or by EST homology searches. In 1992, the first gene for PBDs, PEX2, was identified. It encodes peroxisomal integral membrane protein with a RING finger domain. PEX5 and PEX7 are the genes for peroxisomal targeting signal (PTS)-1 and -2 receptors, respectively. PEX3, PEX16 and PEX19 are considered to be required for the early stage of peroxisome biogenesis. PEX13 protein has an SH3 docking site that binds to the PTS-1 receptor. PEX1 and PEX6 encode ABC protein, and PEX10 and PEX12 also encode integral membrane protein, with RING finger. Temperature-sensitivity, whereby peroxisomal biogenesis and metabolic dysfunctions are restored at 30 degrees C in cells from mild phenotypes, is a useful event for predicting the clinical severity and for elucidation of peroxisome biogenesis. Investigations using knockout mice are expected to facilitate understanding of migration disorders.
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