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Yang, C. Aceruloplasminemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4375 (accessed on 26 September 2026).
Yang C. Aceruloplasminemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4375. Accessed September 26, 2026.
Yang, Catherine. "Aceruloplasminemia" Encyclopedia, https://encyclopedia.pub/entry/4375 (accessed September 26, 2026).
Yang, C. (2020, December 23). Aceruloplasminemia. In Encyclopedia. https://encyclopedia.pub/entry/4375
Yang, Catherine. "Aceruloplasminemia." Encyclopedia. Web. 23 December, 2020.
Aceruloplasminemia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/aceruloplasminemia

Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.

genetic conditions

References

  1. Berg D, Youdim MB. Role of iron in neurodegenerative disorders. Top Magn ResonImaging. 2006 Feb;17(1):5-17. Review.
  2. Harris ZL. Aceruloplasminemia. J Neurol Sci. 2003 Mar 15;207(1-2):108-9.Review.
  3. Hellman NE, Gitlin JD. Ceruloplasmin metabolism and function. Annu Rev Nutr.2002;22:439-58.
  4. Kono S, Miyajima H. Molecular and pathological basis of aceruloplasminemia.Biol Res. 2006;39(1):15-23.
  5. Kono S, Suzuki H, Oda T, Miyajima H, Takahashi Y, Shirakawa K, Ishikawa K,Kitagawa M. Biochemical features of ceruloplasmin gene mutations linked toaceruloplasminemia. Neuromolecular Med. 2006;8(3):361-74.
  6. Kono S, Suzuki H, Oda T, Shirakawa K, Takahashi Y, Kitagawa M, Miyajima H.Cys-881 is essential for the trafficking and secretion of truncated mutantceruloplasmin in aceruloplasminemia. J Hepatol. 2007 Dec;47(6):844-50.
  7. Madsen E, Gitlin JD. Copper and iron disorders of the brain. Annu RevNeurosci. 2007;30:317-37. Review.
  8. Miyajima H. Aceruloplasminemia, an iron metabolic disorder. Neuropathology.2003 Dec;23(4):345-50.
  9. Nittis T, Gitlin JD. The copper-iron connection: hereditaryaceruloplasminemia. Semin Hematol. 2002 Oct;39(4):282-9. Review.
  10. Ponka P. Hereditary causes of disturbed iron homeostasis in the centralnervous system. Ann N Y Acad Sci. 2004 Mar;1012:267-81. Review.
  11. Vassiliev V, Harris ZL, Zatta P. Ceruloplasmin in neurodegenerative diseases. Brain Res Brain Res Rev. 2005 Nov;49(3):633-40. Review.
  12. Xu X, Pin S, Gathinji M, Fuchs R, Harris ZL. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Ann N Y Acad Sci. 2004 Mar;1012:299-305. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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