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Article

Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia.

Neuromolecular medicine - 1 Jan 2006

Kono Satoshi, Suzuki Hitoshi, Oda Toshiaki, Miyajima Hiroaki, Takahashi Yoshitomo, Shirakawa Kentaro, Ishikawa Kuniko, Kitagawa Masatoshi

Abstract excerpt

Aceruloplasminemia is a neurodegenerative disease characterized by parenchymal iron accumulation owing to mutations in the ceruloplasmin gene. Ceruloplasmin is expressed in the central nervous system in which most of the ceruloplasmin is located on the surface of astrocytes in a glycosylphosphatidylinositol (GPI)-anchored form. We herein describe the biochemical features of wild-type and mutant GPI-anchored...

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PMID: 16775387
DOI: 10.1385/NMM:8:3:361

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GPI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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