Abstract
Several human disorders have been associated with a single peroxisomal protein deficiency. In most of these disorders, the organelle appears morphologically intact but lacks the function of a single enzyme of the peroxisomal matrix (e.g. ACOX1 resulting in pseudo-neonatal ALD; OMIM 264470) or of a membrane protein (e.g. ALDP leading to X-ALD; OMIM 300100).
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Berger, J., Kunze, M., Forss-Petter, S. (2003). Lessons from Knockout Mice II: Mouse Models for Peroxisomal Disorders with Single Protein Deficiency. In: Roels, F., Baes, M., De Bie, S. (eds) Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology, vol 544. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9072-3_17
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DOI: https://doi.org/10.1007/978-1-4419-9072-3_17
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