Increased Aβ42(43) from cell lines expressing presenilin 1 mutations

Annals of Neurology

Volumn 43, Issue 2, 1998, Pages 256-258

  Mehta, Nitin D ^a   Refolo, Lawrence M ^a   Eckman, Chris ^a   Sanders, Sunny ^a   Yager, Debra ^a   Perez Tur, Jordi ^a   Younkin, Steve ^a   Duff, Karen ^a   Hardy, John ^a   Hutton, Mike ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; PRESENILIN 1; COMPLEMENTARY DNA; MEMBRANE PROTEIN; PSEN1 PROTEIN, HUMAN;

ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; SITE DIRECTED MUTAGENESIS; ANALYSIS OF VARIANCE; CELL CLONE; CELL LINE; CHROMOSOME 14; GENE EXPRESSION REGULATION; GENETIC TRANSFECTION; GENETICS; KIDNEY; ONSET AGE; POINT MUTATION; PRENATAL DEVELOPMENT; WESTERN BLOTTING;

AGE OF ONSET; ALZHEIMER DISEASE; ANALYSIS OF VARIANCE; BLOTTING, WESTERN; CELL LINE; CHROMOSOMES, HUMAN, PAIR 14; CLONE CELLS; DNA, COMPLEMENTARY; GENE EXPRESSION REGULATION; HUMANS; KIDNEY; MEMBRANE PROTEINS; POINT MUTATION; PRESENILIN-1; TRANSFECTION;

EID: 0031594142     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430217     Document Type: Article

References (21)

1. Goate AM, Chartier Harlin MC, Mullan MC, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991;349:704-706
2. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-760
3. Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995;269:973-977
4. Rogaev EI, Sherrington R, Rogaeva EA, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995;376:775-778
5. Scheuner D, Eckman C, Jensen M, et al. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med 1996;2:864-870
6. Borchelt DR, Thinakaran G, Eckman CB, et al. Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/ 1-40 ratio in vitro and in vivo. Neuron 1996;17:1005-1013
7. Citron M, Westaway D, Xia W, et al. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nat Med 1997;3:67-72
8. Duff K, Eckman C, Zehr C, et al. Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1. Nature 1996; 383:710-713
9. Jarrett JT, Berger EP, Lansbury PT. The carboxy terminus of β-amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease. Biochemistry 1993;32:4693-4697
10. Mann DM, Iwatsubo T, Cairns NJ, et al. Amyloid beta-protein (Aβ) deposition in chromosome 14-linked Alzheimer's disease: predominance of Aβ42(43). Ann Neurol 1996;40:149-156
11. Hardy J. Amyloid, the presenilins and Alzheimer's disease. Trends Neurosci 1997;20:154-159
12. Cruts M, Hendriks L, Van Broeckhoven C. The presenilin genes: a new gene family involved in Alzheimer disease pathology. Hum Mol Genet 1996;5:1449-1455
13. Murgolo NJ, Brown JE, Bayne ML, Strader CD. Presenilin mutations in Alzheimer's disease: molecular models suggest a potential functional locus. Trends Pharmacol 1996;17:389-393
14. Clarke RF, Hutton M, and the Alzheimer's Collaborative Group. The structure of the presenilin-1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet 1995;11:219-222
15. Thinakaran G, Borchelt DR, Lee MK, et al. Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. Neuron 1996;17:181-190
16. Perez-Tur J, Froelich S, Prihar G, et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin 1 gene. Neuroreport 1995;7:204-207
17. Van Duijn CM, Van Broeckhoven C, Hardy JA, et al. Evidence for allelic heterogeneity in familial early onset Alzheimer's disease. Br J Psychiatry 1995;158:471-474
18. Van Broeckhoven C, Backhovens H, Cruts M, et al. ApoE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci Lett 1994; 169:179-180
19. Fox NC, Kennedy AM, Harvey RJ, et al. Clinicopathological features of early onset familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Brain 1997;120:491-501
20. Haltia M, Viitanen M, Sulkava R, et al. Chromosome 14 encoded Alzheimer's disease: genetic and clinicopathological description. Ann Neurol 1994;36:362-367
21. Hutton M, Busfield F, Wragg M, et al. Complete analysis of the presenilin 1 gene in families with early onset Alzheimer's disease. Neuroreport 1996;7:801-805