• proteins
  • We have studied how Pex5p recognizes peroxisomal targeting signal type 1 (PTS1)-containing proteins. (semanticscholar.org)
  • However, little is known about how damaged or obsolete peroxisomal proteins are degraded. (genetics.org)
  • 1 Nine PEX genes have been identified as pathogenic genes for PBD and almost all of these products are involved in the uptake of peroxisomal matrix proteins. (bmj.com)
  • neonatal
  • Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. (genecards.org)
  • The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. (nih.gov)
  • Refsum
  • IRD is associated with deficient phytanic acid catabolism, as is Adult Refsum disease, but they are different disorders that should not be confused. (wikipedia.org)
  • It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991). (wikipedia.org)
  • Refsum disease is a peroxisomal disorder caused by the impaired alpha-oxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives in the plasma and tissues. (wikipedia.org)
  • Organelle
  • Three possible mechanisms for peroxisomal matrix protein degradation can be envisioned: degradation within the organelle by resident proteases, degradation of the entire organelle via autophagy, or retrotranslocation out of the organelle followed by cytosolic degradation. (genetics.org)
  • This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. (wikipedia.org)
  • phenotypes
  • Based on the phenotypes of humans and rodents with plasmalogen disorders, we propose that cross-species differences in tissue plasmalogen levels could influence organ functions and processes ranging from cognition to reproduction to aging. (biomedcentral.com)