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Literature DB >> 12230301

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

Ekaterina Rogaeva¹.
1. ekaterina.rogaeva@utoronto.ca

Abstract

Approximately half of the Alzheimer's disease (AD) cases that are associated with early onset appear to be transmitted as a pure genetic, autosomal dominant trait. Genetic analyses of these pedigrees have found three causal genes: betaAPP, presenilin 1 (PS1), and presenilin 2 (PS2). This review provides an update on the pathological consequences of mutations in early-onset AD genes, the phenotypic heterogeneity of those cases, and future directions for research and clinical practice.

Entities: Disease Gene

Mesh：

Substances：

Year: 2002 PMID： 12230301 DOI： 10.1385/NMM:2:1:01

Source DB: PubMed Journal: Neuromolecular Med ISSN： 1535-1084 Impact factor: 3.843

69 in total

1. Variable phenotype of Alzheimer's disease with spastic paraparesis.

Authors: M J Smith; J B Kwok; C A McLean; J J Kril; G A Broe; G A Nicholson; R Cappai; M Hallupp; R G Cotton; C L Masters; P R Schofield; W S Brooks
Journal: Ann Neurol Date: 2001-01 Impact factor: 10.422

2. Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.

Authors: G Yu; M Nishimura; S Arawaka; D Levitan; L Zhang; A Tandon; Y Q Song; E Rogaeva; F Chen; T Kawarai; A Supala; L Levesque; H Yu; D S Yang; E Holmes; P Milman; Y Liang; D M Zhang; D H Xu; C Sato; E Rogaev; M Smith; C Janus; Y Zhang; R Aebersold; L S Farrer; S Sorbi; A Bruni; P Fraser; P St George-Hyslop
Journal: Nature Date: 2000-09-07 Impact factor: 49.962

3. Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue.

Authors: M B Podlisny; M Citron; P Amarante; R Sherrington; W Xia; J Zhang; T Diehl; G Levesque; P Fraser; C Haass; E H Koo; P Seubert; P St George-Hyslop; D B Teplow; D J Selkoe
Journal: Neurobiol Dis Date: 1997 Impact factor: 5.996

4. Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid beta-protein precursor.

Authors: C Haass; A Y Hung; D J Selkoe; D B Teplow
Journal: J Biol Chem Date: 1994-07-01 Impact factor: 5.157

5. APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease.

Authors: C Van Broeckhoven; H Backhovens; M Cruts; J J Martin; R Crook; H Houlden; J Hardy
Journal: Neurosci Lett Date: 1994-03-14 Impact factor: 3.046

6. Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP.

Authors: J Lewis; D W Dickson; W L Lin; L Chisholm; A Corral; G Jones; S H Yen; N Sahara; L Skipper; D Yager; C Eckman; J Hardy; M Hutton; E McGowan
Journal: Science Date: 2001-08-24 Impact factor: 47.728

7. Full genome screen for Alzheimer disease: stage II analysis.

Authors: Amanda Myers; Fabienne Wavrant De-Vrieze; Peter Holmans; Marian Hamshere; Richard Crook; Danielle Compton; Helen Marshall; David Meyer; Shantia Shears; Jeremy Booth; Dzanan Ramic; Heather Knowles; John C Morris; Nigel Williams; Nadine Norton; Richard Abraham; Pat Kehoe; Hywel Williams; Varuni Rudrasingham; Francis Rice; Peter Giles; Nigel Tunstall; Lesley Jones; Simon Lovestone; Julie Williams; Michael J Owen; John Hardy; Alison Goate
Journal: Am J Med Genet Date: 2002-03-08

8. Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation.

Authors: M Citron; C Vigo-Pelfrey; D B Teplow; C Miller; D Schenk; J Johnston; B Winblad; N Venizelos; L Lannfelt; D J Selkoe
Journal: Proc Natl Acad Sci U S A Date: 1994-12-06 Impact factor: 11.205

9. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.

Authors: W J Strittmatter; A M Saunders; D Schmechel; M Pericak-Vance; J Enghild; G S Salvesen; A D Roses
Journal: Proc Natl Acad Sci U S A Date: 1993-03-01 Impact factor: 11.205

10. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.

Authors: L A Farrer; L A Cupples; J L Haines; B Hyman; W A Kukull; R Mayeux; R H Myers; M A Pericak-Vance; N Risch; C M van Duijn
Journal: JAMA Date: 1997 Oct 22-29 Impact factor: 56.272

20 in total

1. Genetic variability in CLU and its association with Alzheimer's disease.

Authors: Rita J Guerreiro; John Beck; J Raphael Gibbs; Isabel Santana; Martin N Rossor; Jonathan M Schott; Michael A Nalls; Helena Ribeiro; Beatriz Santiago; Nick C Fox; Catarina Oliveira; John Collinge; Simon Mead; Andrew Singleton; John Hardy
Journal: PLoS One Date: 2010-03-03 Impact factor: 3.240

2. Mapping the Progression of Atrophy in Early- and Late-Onset Alzheimer's Disease.

Authors: Raffaella Migliaccio; Federica Agosta; Katherine L Possin; Elisa Canu; Massimo Filippi; Gil D Rabinovici; Howard J Rosen; Bruce L Miller; Maria Luisa Gorno-Tempini
Journal: J Alzheimers Dis Date: 2015 Impact factor: 4.472

3. Evaluation of respiratory chain activity in lymphocytes of patients with Alzheimer disease.

Authors: Pollyana Feldhaus; Daiane B Fraga; Fernando V Ghedim; Renata D De Luca; Thiago D Bruna; Matheus Heluany; Maria Paula Matos; Gabriela K Ferreira; Isabela C Jeremias; Claudia Heluany; Emilio L Streck; Alexandra I Zugno
Journal: Metab Brain Dis Date: 2011-07-26 Impact factor: 3.584

9. Putting presenilins centre stage. Introduction to the Talking Point on the role of presenilin mutations in Alzheimer disease.

Authors: John Hardy
Journal: EMBO Rep Date: 2007-02 Impact factor: 8.807

Review 10. Potential for therapeutic manipulation of the UPR in disease.

Authors: Sang Won Park; Umut Ozcan
Journal: Semin Immunopathol Date: 2013-04-10 Impact factor: 9.623