Literature DB >> 8170579

Novel polymorphism in the A4 region of the amyloid precursor protein gene in a patient without Alzheimer's disease.

M L Peacock1, J T Warren, A D Roses, J K Fink.   

Abstract

We found a novel polymorphism in the amyloid precursor protein (APP) gene in a patient with ischemic cerebrovascular disease who had no evidence of Alzheimer's disease (AD). This polymorphism deletes a Fok I restriction enzyme site and causes the substitution of threonine for alanine at codon 673. This is adjacent to the site at which APP is thought to undergo cleavage in AD. Analysis of this polymorphism may provide insight into the basis of APP processing.

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Year:  1993        PMID： 8170579     DOI： 10.1212/wnl.43.6.1254

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  19 in total

Review 1.  Systems biology and its potential role in radiobiology.

Authors:  Ludwig Feinendegen; Philip Hahnfeldt; Eric E Schadt; Michael Stumpf; Eberhard O Voit
Journal:  Radiat Environ Biophys       Date:  2007-12-18       Impact factor: 1.925

2.  Similarities in the thermodynamics and kinetics of aggregation of disease-related Abeta(1-40) peptides.

Authors:  Jessica Meinhardt; Gian Gaetano Tartaglia; Amol Pawar; Tony Christopeit; Peter Hortschansky; Volker Schroeckh; Christopher M Dobson; Michele Vendruscolo; Marcus Fändrich
Journal:  Protein Sci       Date:  2007-06       Impact factor: 6.725

Review 3.  Advances in systems biology are enhancing our understanding of disease and moving us closer to novel disease treatments.

Authors:  Eric E Schadt; Bin Zhang; Jun Zhu
Journal:  Genetica       Date:  2009-04-11       Impact factor: 1.082

4.  A mutation in APP protects against Alzheimer's disease and age-related cognitive decline.

Authors:  Thorlakur Jonsson; Jasvinder K Atwal; Stacy Steinberg; Jon Snaedal; Palmi V Jonsson; Sigurbjorn Bjornsson; Hreinn Stefansson; Patrick Sulem; Daniel Gudbjartsson; Janice Maloney; Kwame Hoyte; Amy Gustafson; Yichin Liu; Yanmei Lu; Tushar Bhangale; Robert R Graham; Johanna Huttenlocher; Gyda Bjornsdottir; Ole A Andreassen; Erik G Jönsson; Aarno Palotie; Timothy W Behrens; Olafur T Magnusson; Augustine Kong; Unnur Thorsteinsdottir; Ryan J Watts; Kari Stefansson
Journal:  Nature       Date:  2012-08-02       Impact factor: 49.962

5.  The Alzheimer disease protective mutation A2T modulates kinetic and thermodynamic properties of amyloid-β (Aβ) aggregation.

Authors:  Iryna Benilova; Rodrigo Gallardo; Andreea-Alexandra Ungureanu; Virginia Castillo Cano; An Snellinx; Meine Ramakers; Carmen Bartic; Frederic Rousseau; Joost Schymkowitz; Bart De Strooper
Journal:  J Biol Chem       Date:  2014-09-24       Impact factor: 5.157

6.  A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

Authors:  Giuseppe Di Fede; Marcella Catania; Michela Morbin; Giacomina Rossi; Silvia Suardi; Giulia Mazzoleni; Marco Merlin; Anna Rita Giovagnoli; Sara Prioni; Alessandra Erbetta; Chiara Falcone; Marco Gobbi; Laura Colombo; Antonio Bastone; Marten Beeg; Claudia Manzoni; Bruna Francescucci; Alberto Spagnoli; Laura Cantù; Elena Del Favero; Efrat Levy; Mario Salmona; Fabrizio Tagliavini
Journal:  Science       Date:  2009-03-13       Impact factor: 47.728

Review 7.  The degradation of amyloid beta as a therapeutic strategy in Alzheimer's disease and cerebrovascular amyloidoses.

Authors:  Laura Morelli; Ramiro Llovera; Sandra Ibendahl; Eduardo M Castaño
Journal:  Neurochem Res       Date:  2002-11       Impact factor: 3.996

8.  Alternative Selection of β-Site APP-Cleaving Enzyme 1 (BACE1) Cleavage Sites in Amyloid β-Protein Precursor (APP) Harboring Protective and Pathogenic Mutations within the Aβ Sequence.

Authors:  Ayano Kimura; Saori Hata; Toshiharu Suzuki
Journal:  J Biol Chem       Date:  2016-09-29       Impact factor: 5.157

9.  The APP A673T frequency differs between Nordic countries.

Authors:  Jonas Mengel-From; Bernard Jeune; Tienari Pentti; Matt McGue; Kaare Christensen; Lene Christiansen
Journal:  Neurobiol Aging       Date:  2015-07-11       Impact factor: 4.673

Review 10.  Moving toward a system genetics view of disease.

Authors:  Solveig K Sieberts; Eric E Schadt
Journal:  Mamm Genome       Date:  2007-07-26       Impact factor: 2.957
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