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Author, Editor(s)

Author(s):

Hofmann, Wolf Peter
Welsch, Christoph
Takahashi, Yoshitomo
Miyajima, Hiroaki
Mihm, Ulrike
Krick, Christoph
Zeuzem, Stefan
Sarrazin, Christoph

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Not MPG Author(s):

Hofmann, Wolf Peter
Takahashi, Yoshitomo
Miyajima, Hiroaki
Mihm, Ulrike
Krick, Christoph
Zeuzem, Stefan
Sarrazin, Christoph

BibTeX cite key*:

HofmannWelsch2007

Title

Title*:

Identification and in silico characterization of a novel compound heterozygosty associated with hereditary aceruloplasminemia

Journal

Journal Title*:

Scandinavian Journal of Gastroenterology

Journal's URL:


Download URL
for the article:

http://dx.doi.org/10.1080/00365520701278810

Language:

English

Publisher

Publisher's
Name:

Taylor & Francis

Publisher's URL:


Publisher's
Address:


ISSN:

0036-5521

Vol, No, pp, Date

Volume*:

42

Number:

9

Publishing Date:

2007

Pages*:

1088-1094

Number of
VG Pages:


Page Start:

1088

Page End:

1094

Sequence Number:


DOI:

10.1080/00365520701278810

Note, Abstract, ©

Note:


(LaTeX) Abstract:

Background. Hereditary aceruloplasminemia is an adult-onset autosomal recessive disease characterized by increased iron overload in the liver, pancreas, retina, and central nervous system. So far, 45 families with cases of aceruloplasminemia have been reported world-wide and mainly missense and nonsense mutations in the ceruloplasmin gene were detected. Material and methods. Here, we report the identification, clinical characterization, and in silico analysis of a novel compound heterozygosity in the ceruloplasmin gene of a 31-year-old man with iron overload. Results. Increased serum ferritin levels, elevated iron saturation, as well as results of iron quantification in the liver and magnetic resonance imaging-based measurement of T2 relaxation times of the substantia nigra consistently suggested iron overload. By sequencing the ceruloplasmin gene, so far unknown nucleotide replacements G229C, and C2131A were detected in exons 2 and 12, respectively. In silico analyses showed that the resulting amino acid changes Asp58His and Gln692Lys are located at highly conserved positions. The Asp58His mutation is located on the surface of the protein, alters polarity, and may interfere with copper incorporation or ceruloplasmin trafficking. The Gln692Lys mutation is mapped to a -strand of domain 4 and may lead to conformational change of the cupredoxin fold. Conclusions. As causative for aceruloplasminemia, a formerly unknown compound heterozygosity in the ceruloplasmin gene was identified. In silico characterization suggests an impact on ceruloplasmin conformation and function.

URL for the Abstract:


Categories,
Keywords:

Aceruloplasminemia, compound heterozygosity, iron metabolism, mutations

HyperLinks / References / URLs:


Copyright Message:


Personal Comments:


Download
Access Level:

Internal

Correlation

MPG Unit:

Max-Planck-Institut für Informatik



MPG Subunit:

Computational Biology and Applied Algorithmics

Audience:

Expert

Appearance:

MPII WWW Server, MPII FTP Server, MPG publications list, university publications list, working group publication list, Fachbeirat, VG Wort


BibTeX Entry:

@ARTICLE{HofmannWelsch2007,
AUTHOR = {Hofmann, Wolf Peter and Welsch, Christoph and Takahashi, Yoshitomo and Miyajima, Hiroaki and Mihm, Ulrike and Krick, Christoph and Zeuzem, Stefan and Sarrazin, Christoph},
TITLE = {Identification and in silico characterization of a novel compound heterozygosty associated with hereditary aceruloplasminemia},
JOURNAL = {Scandinavian Journal of Gastroenterology},
PUBLISHER = {Taylor & Francis},
YEAR = {2007},
NUMBER = {9},
VOLUME = {42},
PAGES = {1088--1094},
ISBN = {0036-5521},
DOI = {10.1080/00365520701278810},
}


Entry last modified by Uwe Brahm, 02/28/2008
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Editor(s)
Anja Becker
Created
02/13/2008 02:29:34 PM
Revision
1.
0.


Editor
Uwe Brahm
Anja Becker


Edit Date
02/28/2008 04:17:03 PM
13.02.2008 14:38:38