Literature DB >> 9328472

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).

C B Eckman1, N D Mehta, R Crook, J Perez-tur, G Prihar, E Pfeiffer, N Graff-Radford, P Hinder, D Yager, B Zenk, L M Refolo, C M Prada, S G Younkin, M Hutton, J Hardy.   

Abstract

We report a novel mutation in the amyloid precursor protein gene (APP I716V) which probably leads to familial early onset Alzheimer's disease with an onset age in the mid 50s. Cells transfected with cDNAs bearing this mutation produce more A beta 1-42(43) than those transfected with wild-type APP and this effect is additive with that of the previously reported APP V717I mutation thus providing a novel approach for further increasing A beta 1-42(43) in model systems.

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Year:  1997        PMID： 9328472     DOI： 10.1093/hmg/6.12.2087

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  53 in total

1.  Mechanism of the cleavage specificity of Alzheimer's disease gamma-secretase identified by phenylalanine-scanning mutagenesis of the transmembrane domain of the amyloid precursor protein.

Authors:  S F Lichtenthaler; R Wang; H Grimm; S N Uljon; C L Masters; K Beyreuther
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-16       Impact factor: 11.205

2.  Aberrant amyloid precursor protein (APP) processing in hereditary forms of Alzheimer disease caused by APP familial Alzheimer disease mutations can be rescued by mutations in the APP GxxxG motif.

Authors:  Lisa-Marie Munter; Anne Botev; Luise Richter; Peter W Hildebrand; Veit Althoff; Christoph Weise; Daniela Kaden; Gerd Multhaup
Journal:  J Biol Chem       Date:  2010-05-07       Impact factor: 5.157

3.  Preparation and characterization of toxic Abeta aggregates for structural and functional studies in Alzheimer's disease research.

Authors:  Asad Jan; Dean M Hartley; Hilal A Lashuel
Journal:  Nat Protoc       Date:  2010-06-03       Impact factor: 13.491

Review 4.  Genetics, transcriptomics, and proteomics of Alzheimer's disease.

Authors:  Andreas Papassotiropoulos; Michael Fountoulakis; Travis Dunckley; Dietrich A Stephan; Eric M Reiman
Journal:  J Clin Psychiatry       Date:  2006-04       Impact factor: 4.384

5.  BACE1 gene deletion prevents neuron loss and memory deficits in 5XFAD APP/PS1 transgenic mice.

Authors:  Masuo Ohno; Sarah L Cole; Marina Yasvoina; Jie Zhao; Martin Citron; Robert Berry; John F Disterhoft; Robert Vassar
Journal:  Neurobiol Dis       Date:  2006-12-20       Impact factor: 5.996

6.  Exosome reduction in vivo is associated with lower amyloid plaque load in the 5XFAD mouse model of Alzheimer's disease.

Authors:  Michael B Dinkins; Somsankar Dasgupta; Guanghu Wang; Gu Zhu; Erhard Bieberich
Journal:  Neurobiol Aging       Date:  2014-02-15       Impact factor: 4.673

7.  Beta-amyloid precursor protein mutants respond to gamma-secretase modulators.

Authors:  Richard M Page; Amelie Gutsmiedl; Akio Fukumori; Edith Winkler; Christian Haass; Harald Steiner
Journal:  J Biol Chem       Date:  2010-03-26       Impact factor: 5.157

Review 8.  The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease.

Authors:  Ekaterina Rogaeva
Journal:  Neuromolecular Med       Date:  2002       Impact factor: 3.843

Review 9.  The environment, epigenetics and amyloidogenesis.

Authors:  Jinfang Wu; Md Riyaz Basha; Nasser H Zawia
Journal:  J Mol Neurosci       Date:  2007-04-17       Impact factor: 3.444

10.  Structural conversion of neurotoxic amyloid-beta(1-42) oligomers to fibrils.

Authors:  Mahiuddin Ahmed; Judianne Davis; Darryl Aucoin; Takeshi Sato; Shivani Ahuja; Saburo Aimoto; James I Elliott; William E Van Nostrand; Steven O Smith
Journal:  Nat Struct Mol Biol       Date:  2010-04-11       Impact factor: 15.369
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