DOI: 10.1126/science.7638622. Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus

Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus

10.1126/science.7638622

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

Abstract

A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified ( STM2 ). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2 , resulting in the substitution of an isoleucine for an asparagine (N141I), was identified in affected people from Volga German AD kindreds. This N141I mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.

Bibliography

Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D. M., Oshima, J., Pettingell, W. H., Yu, C., Jondro, P. D., Schmidt, S. D., Wang, K., Crowley, A. C., Fu, Y.-H., Guenette, S. Y., Galas, D., Nemens, E., Wijsman, E. M., Bird, T. D., Schellenberg, G. D., & Tanzi, R. E. (1995). Candidate Gene for the Chromosome 1 Familial Alzheimerâs Disease Locus. Science, 269(5226), 973â977.

Authors 19

Ephrat Levy-Lahad (first)
Wilma Wasco (additional)
Parvoneh Poorkaj (additional)
Donna M. Romano (additional)
Junko Oshima (additional)
Warren H. Pettingell (additional)
Chang-en Yu (additional)
Paul D. Jondro (additional)
Stephen D. Schmidt (additional)
Kai Wang (additional)
Annette C. Crowley (additional)
Ying-Hui Fu (additional)
Suzanne Y. Guenette (additional)
David Galas (additional)
Ellen Nemens (additional)
Ellen M. Wijsman (additional)
Thomas D. Bird (additional)
Gerard D. Schellenberg (additional)
Rudolph E. Tanzi (additional)

References 30 Referenced 1,946

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BERNSTEIN, H.G., AN IMMUNOHISTOCHEMICAL STUDY OF CATHEPSIN-E IN ALZHEIMER-TYPE DEMENTIA BRAINS, BRAIN RESEARCH 667: 287 (1994). (10.1016/0006-8993(94)91509-1) / BRAIN RESEARCH (1994)
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Dates

Type	When
Created	18 years, 9 months ago (Oct. 27, 2006, 2:19 p.m.)
Deposited	1 year, 7 months ago (Jan. 14, 2024, 11:49 p.m.)
Indexed	3 days, 15 hours ago (Aug. 20, 2025, 8:46 a.m.)
Issued	30 years ago (Aug. 18, 1995)
Published	30 years ago (Aug. 18, 1995)
Published Print	30 years ago (Aug. 18, 1995)

Funders 0

None

BibTeX

@article{Levy_Lahad_1995, title={Candidate Gene for the Chromosome 1 Familial Alzheimer’s Disease Locus}, volume={269}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.7638622}, DOI={10.1126/science.7638622}, number={5226}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Levy-Lahad, Ephrat and Wasco, Wilma and Poorkaj, Parvoneh and Romano, Donna M. and Oshima, Junko and Pettingell, Warren H. and Yu, Chang-en and Jondro, Paul D. and Schmidt, Stephen D. and Wang, Kai and Crowley, Annette C. and Fu, Ying-Hui and Guenette, Suzanne Y. and Galas, David and Nemens, Ellen and Wijsman, Ellen M. and Bird, Thomas D. and Schellenberg, Gerard D. and Tanzi, Rudolph E.}, year={1995}, month=aug, pages={973–977} }

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