Peroxisomal disorder

Peroxisomal disorder
Basic structure of a peroxisome
SpecialtyMedical genetics

Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.[1] This may be due to defects in single enzymes[2] important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.[3]

  1. ^ Wanders, R. J. A.; Waterham, H. R. (2006). "Biochemistry of Mammalian Peroxisomes Revisited". Annual Review of Biochemistry. 75: 295–332. doi:10.1146/annurev.biochem.74.082803.133329. PMID 16756494.
  2. ^ Wanders, R.; Waterham, H. (2006). "Peroxisomal disorders: the single peroxisomal enzyme deficiencies". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1763 (12): 1707–20. doi:10.1016/j.bbamcr.2006.08.010. PMID 17055078.
  3. ^ Weller, S.; Gould, S. J.; Valle, D. (2003). "Peroxisome Biogenesis Disorders". Annual Review of Genomics and Human Genetics. 4: 165–211. doi:10.1146/annurev.genom.4.070802.110424. PMID 14527301.
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