Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis.

doi:10.1016/j.jns.2010.08.019

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Article

Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis.

Journal of the neurological sciences - 15 Nov 2010

Hida Ayumi, Kowa Hisatomo, Iwata Atsushi, Tanaka Masaki, Kwak Shin, Tsuji Shoji

Abstract excerpt

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...

Topics

Blotting, Western
Brain
Calreticulin
Cells, Cultured
Ceruloplasmin
Cognition Disorders
DNA
DNA Mutational Analysis
Endoplasmic Reticulum
Eye
Female
Gait Disorders, Neurologic
Golgi Apparatus
Humans

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Open in PubMed

Identifiers

PMID: 20828764
DOI: 10.1016/j.jns.2010.08.019

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Magnetic Resonance Imaging

Middle Aged

Mutation

Pedigree