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Science 18 August 1995:
Vol. 269. no. 5226, pp. 973 - 977
DOI: 10.1126/science.7638622
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Articles
Science, Vol 269, Issue 5226, 973-977
Copyright © 1995 by American Association for the Advancement of Science
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
E Levy-Lahad,
W Wasco,
P Poorkaj,
DM Romano,
J Oshima,
WH Pettingell,
CE Yu,
PD Jondro,
SD Schmidt,
K Wang,
and
al. et
Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA.
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 (N141l), was identified in affected people from Volga German AD kindreds. This N141l 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.
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- Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland.
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Neurology
57, 1663-1668
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- Disturbed Activation of Endoplasmic Reticulum Stress Transducers by Familial Alzheimer's Disease-linked Presenilin-1 Mutations.
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J. Biol. Chem.
276, 43446-43454
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- Impact of DNA Testing for Early-Onset Familial Alzheimer Disease and Frontotemporal Dementia.
- E. J. Steinbart, C. O. Smith, P. Poorkaj, and T. D. Bird (2001)
Arch Neurol
58, 1828-1831
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- Chronic Overexpression of the Calcineurin Inhibitory Gene DSCR1 (Adapt78) Is Associated with Alzheimer's Disease.
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J. Biol. Chem.
276, 38787-38794
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- Detangling Alzheimer's Disease.
- L. Helmuth (2001)
Sci. Aging Knowl. Environ.
2001, oa2-2
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- A Portrait of Alzheimer Secretases--New Features and Familiar Faces.
- W. P. Esler and M. S. Wolfe (2001)
Science
293, 1449-1454
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- Enhanced Neurofibrillary Degeneration in Transgenic Mice Expressing Mutant Tau and APP.
- J. Lewis, D. W. Dickson, W.-L. Lin, L. Chisholm, A. Corral, G. Jones, S.-H. Yen, N. Sahara, L. Skipper, D. Yager, et al. (2001)
Science
293, 1487-1491
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- Mismatch repair detection (MRD): high-throughput scanning for DNA variations.
- M. Faham, S. Baharloo, S. Tomitaka, J. DeYoung, and N. B. Freimer (2001)
Hum. Mol. Genet.
10, 1657-1664
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- Negative Regulation of the SAPK/JNK Signaling Pathway by Presenilin 1.
- J. W. Kim, T.-S. Chang, J. E. Lee, S.-H. Huh, S. W. Yeon, W. S. Yang, C. O. Joe, I. Mook-Jung, R. E. Tanzi, T.-W. Kim, et al. (2001)
J. Cell Biol.
153, 457-464
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- Alzheimer's Disease: Genes, Proteins, and Therapy.
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Physiol Rev
81, 741-766
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- Presenilin 1 Negatively Regulates {beta}-Catenin/T Cell Factor/Lymphoid Enhancer Factor-1 Signaling Independently of {beta}-Amyloid Precursor Protein and Notch Processing.
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J. Cell Biol.
152, 785-794
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- Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically.
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PNAS
97, 12822-12827
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- Subcellular localization of presenilins during mouse preimplantation development.
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FASEB J
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- Linkage of Familial Amyotrophic Lateral Sclerosis With Frontotemporal Dementia to Chromosome 9q21-q22.
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JAMA
284, 1664-1669
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- Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility.
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Hum. Mol. Genet.
9, 2383-2394
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- Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein.
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Hum. Mol. Genet.
9, 2281-2289
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