Twenty years of Alzheimer's disease-causing mutations

被引：106

作者：

Goate, Alison ^{[3
,4
,5
]}

Hardy, John ^{[1
,2
]}

机构：

[1] UCL Inst Neurol, Dept Mol Neurosci, London, England

[2] UCL Inst Neurol, Reta Lilla Weston Labs, London, England

[3] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA

[4] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA

[5] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA

来源：

JOURNAL OF NEUROCHEMISTRY | 2012年 / 120卷

基金：

英国医学研究理事会;

关键词：

Alzheimer's disease; amyloid; APP; genetics; tau; AMYLOID PRECURSOR PROTEIN; HEREDITARY CEREBRAL-HEMORRHAGE; MILD COGNITIVE IMPAIRMENT; BETA-PROTEIN; MISSENSE MUTATION; COMMON VARIANTS; GENETIC-LINKAGE; SENILE PLAQUES; MOUSE MODEL; FOLLOW-UP;

D O I：

10.1111/j.1471-4159.2011.07575.x

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In this study, we review our finding of APP mutations in Alzheimers disease in 1990-1991 with the benefit of 20 years perspective. We discuss the historical context in which we made the finding, its immediate and continuing effects on research activity and our hopes for successful clinical testing of the hypothesis. We also briefly discuss the effects finding APP mutations has had on our own careers and those of our colleagues from 1991.

引用

页码：3 / 8

页数：6

共 67 条

[1] ROLE OF THE BETA-AMYLOID PRECURSOR PROTEIN IN ALZHEIMERS-DISEASE [J].

ASHALL, F ;

GOATE, AM .

TRENDS IN BIOCHEMICAL SCIENCES, 1994, 19 (01) :42-46

[2] Clusters of hyperactive neurons near amyloid plaques in a mouse model of Alzheimer's disease [J].

Busche, Marc Aurel ;

Eichhoff, Gerhard ;

Adelsberger, Helmuth ;

Abramowski, Dorothee ;

Wiederhold, Karl-Heinz ;

Haass, Christian ;

Staufenbiel, Matthias ;

Konnerth, Arthur ;

Garaschuk, Olga .

SCIENCE, 2008, 321 (5896) :1686-1689

[3] RELEASE OF EXCESS AMYLOID BETA-PROTEIN FROM A MUTANT AMYLOID BETA-PROTEIN PRECURSOR [J].

CAI, XD ;

GOLDE, TE ;

YOUNKIN, SG .

SCIENCE, 1993, 259 (5094) :514-516

[4] Human apoE Isoforms Differentially Regulate Brain Amyloid-β Peptide Clearance [J].

Castellano, Joseph M. ;

Kim, Jungsu ;

Stewart, Floy R. ;

Jiang, Hong ;

DeMattos, Ronald B. ;

Patterson, Bruce W. ;

Fagan, Anne M. ;

Morris, John C. ;

Mawuenyega, Kwasi G. ;

Cruchaga, Carlos ;

Goate, Alison M. ;

Bales, Kelly R. ;

Paul, Steven M. ;

Bateman, Randall J. ;

Holtzman, David M. .

SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (89)

[5] EARLY-ONSET ALZHEIMERS-DISEASE CAUSED BY MUTATIONS AT CODON-717 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE [J].

CHARTIERHARLIN, MC ;

CRAWFORD, F ;

HOULDEN, H ;

WARREN, A ;

HUGHES, D ;

FIDANI, L ;

GOATE, A ;

ROSSOR, M ;

ROQUES, P ;

HARDY, J ;

MULLAN, M .

NATURE, 1991, 353 (6347) :844-846

[6] MUTATION OF THE BETA-AMYLOID PRECURSOR PROTEIN IN FAMILIAL ALZHEIMERS-DISEASE INCREASES BETA-PROTEIN PRODUCTION [J].

CITRON, M ;

OLTERSDORF, T ;

HAASS, C ;

MCCONLOGUE, L ;

HUNG, AY ;

SEUBERT, P ;

VIGOPELFREY, C ;

LIEBERBURG, I ;

SELKOE, DJ .

NATURE, 1992, 360 (6405) :672-674

[7] THE STRUCTURE OF THE PRESENILIN-1 (S182) GENE AND IDENTIFICATION OF 6 NOVEL MUTATIONS IN EARLY-ONSET AD FAMILIES [J].

CLARK, RF ;

HUTTON, M ;

FULDNER, RA ;

FROELICH, S ;

KARRAN, E ;

TALBOT, C ;

CROOK, R ;

LENDON, C ;

PRIHAR, G ;

HE, C ;

KORENBLAT, K ;

MARTINEZ, A ;

WRAGG, M ;

BUSFIELD, F ;

BEHRENS, MI ;

MYERS, A ;

NORTON, J ;

MORRIS, J ;

MEHTA, N ;

PEARSON, C ;

LINCOLN, S ;

BAKER, M ;

DUFF, K ;

ZEHR, C ;

PEREZTUR, J ;

HOULDEN, H ;

RUIZ, A ;

OSSA, J ;

LOPERA, F ;

ARCOS, M ;

MADRIGAL, L ;

COLLINGE, J ;

HUMPHREYS, C ;

ASHWORTH, A ;

SARNER, S ;

FOX, N ;

HARVEY, R ;

KENNEDY, A ;

ROQUES, P ;

CLINE, RT ;

PHILLIPS, CA ;

VENTER, JC ;

FORSELL, L ;

AXELMAN, K ;

LILIUS, L ;

JOHNSTON, J ;

COWBURN, R ;

VIITANEN, M ;

WINBLAD, B ;

KOSIK, K .

NATURE GENETICS, 1995, 11 (02) :219-222

[8] PROTECTIVE EFFECT OF APOLIPOPROTEIN-E TYPE-2 ALLELE FOR LATE-ONSET ALZHEIMER-DISEASE [J].

CORDER, EH ;

SAUNDERS, AM ;

RISCH, NJ ;

STRITTMATTER, WJ ;

SCHMECHEL, DE ;

GASKELL, PC ;

RIMMLER, JB ;

LOCKE, PA ;

CONNEALLY, PM ;

SCHMADER, KE ;

SMALL, GW ;

ROSES, AD ;

HAINES, JL ;

PERICAKVANCE, MA .

NATURE GENETICS, 1994, 7 (02) :180-184

[9] GENE DOSE OF APOLIPOPROTEIN-E TYPE-4 ALLELE AND THE RISK OF ALZHEIMERS-DISEASE IN LATE-ONSET FAMILIES [J].

CORDER, EH ;

SAUNDERS, AM ;

STRITTMATTER, WJ ;

SCHMECHEL, DE ;

GASKELL, PC ;

SMALL, GW ;

ROSES, AD ;

HAINES, JL ;

PERICAKVANCE, MA .

SCIENCE, 1993, 261 (5123) :921-923

[10] YKL-40: A Novel Prognostic Fluid Biomarker for Preclinical Alzheimer's Disease [J].

Craig-Schapiro, Rebecca ;

Perrin, Richard J. ;

Roe, Catherine M. ;

Xiong, Chengjie ;

Carter, Deborah ;

Cairns, Nigel J. ;

Mintun, Mark A. ;

Peskind, Elaine R. ;

Li, Ge ;

Galasko, Douglas R. ;

Clark, Christopher M. ;

Quinn, Joseph F. ;

D'Angelo, Gina ;

Malone, James P. ;

Townsend, R. Reid ;

Morris, John C. ;

Fagan, Anne M. ;

Holtzman, David M. .

BIOLOGICAL PSYCHIATRY, 2010, 68 (10) :903-912

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