The DOI matches its Crossref record; 58 of the 59 references it cites were found in a registry or an index.
The presenilin genes: a new gene family involved in Alzheimer disease pathology
Abstract
A positional cloning approach has led to the identification of two closely related genes, the presenilins (PS), for autosomal dominant presenile Alzheimer disease (AD): PS-1 at 14q24.3 and PS-2 at 1q31-q42. The PS-1 gene was identified by direct cDNA selection of yeast artificial chromosomes containing the candidate chromosomal region. Subsequently, the PS-2 gene was identified due to its high sequence homology with PS-1 and its location within the candidate region defined by linkage studies. To date, 30 different missense mutations and one in-frame splice site mutation were described in PS-1, while only two missense mutations were detected in PS-2, suggesting that PS-1 mutations are more frequently involved in familial presenile AD. The PS transcripts encode novel proteins that resemble integral transmembrane proteins of roughly 450 amino acids and at least seven transmembrane domains. The genomic organization of the PS genes is very similar showing that full length PS-1 and PS-2 are encoded by 10 exons. However, different alternative splicing patterns have been observed for PS-1 and PS-2 indicating that the corresponding proteins (ps-1 and ps-2) may have similar but not identical biological functions.
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Research works printed but not linked: 1
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Middeldorp, J., & Hol, E. M. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.01.005 · Cited by 1,080
Presenilin 1 is required for Notch 1 and Dll1 expression in the paraxial mesoderm
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Metadata
- Authors
- Cruts, M., Hendriks, L., & Van Broeckhoven, C.
- Affiliations
- University of Antwerp (BE)
- ORCID
- Cruts, Marc
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1996-09
- Volume
- 5
- Issue
- Supplement_1
- Pages
- 1449-1455
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2121823413
- Cited by
- 163
- References
- 59
- Citations by year
- 2026: 1 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 1 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 5 · 2016: 2 · 2015: 4 · 2014: 6 · 2013: 7 · 2012: 1
- FWCI
- 4.66
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- presenilin 1, presenilin 2, familial Alzheimer's disease, positional cloning, missense mutations, splice site mutation, transmembrane proteins, alternative splicing, gene family, yeast artificial chromosomes, cDNA selection, linkage mapping
- MeSH terms
- Alzheimer Disease, Amino Acid Sequence, Animals, Cloning, Molecular, Humans, Membrane Proteins, Molecular Sequence Data, Mutation, Gene Expression, Sequence Homology, Amino Acid, Presenilin-1, Presenilin-2
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