Abstract
We report a Japanese woman diagnosed as aceruloplasminemia showing characteristic
symptoms. Mutational analysis of CP gene revealed a novel homozygous mutation in exon 18, resulting in prematurely truncated
W1017X protein. In vitro study showed that W1017X mutant ceruloplasmin was deficient in endoplasmic reticulum
to Golgi trafficking and was not secreted to medium. It has been reported that the
presence of both the G (FLI/LI) GP domain and the 881th cysteine residue was sufficient
for secretion. Thus, our report on this novel mutant indicates the previously unreported
importance of carboxy-terminus residues in the secretion pathway.
Keywords
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Article info
Publication history
Published online: September 10, 2010
Accepted:
August 13,
2010
Received in revised form:
August 11,
2010
Received:
July 21,
2010
Footnotes
☆This study was supported by KAKENHI from JSPS (Japan Society for the Promotion of Science); Japan Ministry of Education, Culture, Sports, Science and Technology; Mochida Memorial Foundation for Medical and Pharmaceutical Research; Brain Science Foundation; Cell Science Research Foundation; and Janssen Pharmaceuticals. AI receives consultant fee from Pfizer Inc and Bristol Myers, and ST receives consultant fee from Eisai.
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Copyright
© 2010 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
