کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1914537 | 1535164 | 2010 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: Clinical presentations and analysis of genetic and molecular pathogenesis
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
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چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 298, Issues 1â2, 15 November 2010, Pages 136-139
Journal: Journal of the Neurological Sciences - Volume 298, Issues 1â2, 15 November 2010, Pages 136-139
نویسندگان
Ayumi Hida, Hisatomo Kowa, Atsushi Iwata, Masaki Tanaka, Shin Kwak, Shoji Tsuji,