The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Peroxisome biogenesis disorders
Open accessAbstract
Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and rhizomelic chondrodysplasia punctata are progressive disorders characterized by loss of multiple peroxisomal metabolic functions. These diseases are inherited in an autosomal recessive manner, are caused by defects in the import of peroxisomal matrix proteins and are referred to as the peroxisome biogenesis disorders (PBDs). Recent studies have identified the PEX genes that are mutated in 11 of the 12 known complementation groups of PBD patients. This article reviews these advances in PBD genetics and discusses how studies of human PEX genes, their protein products and PBD cell lines are shaping current models of peroxisome biogenesis.
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Hettema, E. H., Girzalsky, W., van den Berg, M., Erdmann, R., & Distel, B. (2000) · The EMBO Journal · doi:10.1093/emboj/19.2.223 · Cited by 279
Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli
Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A., & Gould, S. J. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.45.29607 · Cited by 266
Self-citation
Cited by
Biochemistry of mammalian peroxisomes revisited
Wanders, R. J. A., & Waterham, H. R. (2006) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.74.082803.133329 · Cited by 995
Functions and biosynthesis of plasmalogens in health and disease
Brites, P., Waterham, H. R., & Wanders, R. J. A. (2004) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2003.12.010 · Cited by 416
Mechanisms of Plant Salt Response: Insights from Proteomics
Zhang, H., Han, B., Wang, T., Chen, S., Li, H., Zhang, Y., & Dai, S. (2012) · Journal of Proteome Research · doi:10.1021/pr200861w · Cited by 377
Purdue, P. E., & Lazarow, P. B. (2001) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.17.1.701 · Cited by 322
Hair Follicle Stem Cell-Specific PPARγ Deletion Causes Scarring Alopecia
Karnik, P., Tekeste, Z., McCormick, T. S., Gilliam, A. C., Price, V. H., Cooper, K. D., & Mirmirani, P. (2009) · Journal of Investigative Dermatology · doi:10.1038/jid.2008.369 · Cited by 321
Metadata
- Authors
- Gould, S. J., & Valle, D.
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2000-08
- Volume
- 16
- Issue
- 8
- Pages
- 340-345
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W171263212
- Cited by
- 310
- References
- 2
- FWCI
- 3.75
- Type
- journal article
- Language
- en
- Open access
- hybrid
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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