Cited by 163Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchNeuroinflammation and Neurodegeneration Mechanisms

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

Cruts, Marc, Hendriks, Lydia, Van Broeckhoven, Christine·1996·Human Molecular Genetics

DOI 10.1093/hmg/5.supplement_1.1449

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1093/hmg/5.supplement_1.1449

Cites

58 of 58 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Alzheimer's disease: the amyloid cascade hypothesis
Hardy, J. A., & Higgins, G. A. (1992) · Science · doi:10.1126/science.1566067 · Cited by 7,484
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995) · Nature · doi:10.1038/375754a0 · Cited by 4,051
Secreted amyloid β–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
Scheuner, D., Eckman, C., Jensen, M., Song, X., Citron, M., Suzuki, N., Bird, T. D., Hardy, J., Hutton, M., Kukull, W., et al. (1996) · Nature Medicine · doi:10.1038/nm0896-864 · Cited by 2,599
Candidate gene for the chromosome 1 familial Alzheimer’s disease locus
Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D. M., Oshima, J., Pettingell, W. H., Yu, C.-E., Jondro, P. D., Schmidt, S. D., Wang, K., et al. (1995) · Science · doi:10.1126/science.7638622 · Cited by 2,577
Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein
Games, D., Adams, D., Alessandrini, R., Barbour, R., Borthelette, P., Blackwell, C., Carr, T., Clemens, J., Donaldson, T., Gillespie, F., et al. (1995) · Nature · doi:10.1038/373523a0 · Cited by 2,516
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
Rogaev, E. I., Sherrington, R., Rogaeva, E. A., Levesque, G., Ikeda, M., Liang, Y., Chi, H., Lin, C., Holman, K., Tsuda, T., et al. (1995) · Nature · doi:10.1038/376775a0 · Cited by 2,052
Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14
Schellenberg, G. D., Bird, T. D., Wijsman, E. M., Orr, H. T., Anderson, L., Nemens, E. J., White, J. A., Bonnycastle, L. L., Weber, J. L., Alonso, M. E., et al. (1992) · Science · doi:10.1126/science.1411576 · Cited by 957
A Familial Alzheimer's Disease Locus on Chromosome 1
Levy‐Lahad, E., Wijsman, E. M., Nemens, E. J., Anderson, L., Goddard, K. A. B., Weber, J. L., Bird, T. D., & Schellenberg, G. D. (1995) · Science · doi:10.1126/science.7638621 · Cited by 832
Alzheimer–associated presenilins 1 and 2 : Neuronal expression in brain and localization to intracellular membranes in mammalian cells
Kovacs, D. M., Fausett, H. J., Page, K. J., Kim, T., Moir, R. D., Merriam, D. E., Hollister, R. D., Hallmark, O. G., Mancini, R., Felsenstein, K. M., et al. (1996) · Nature Medicine · doi:10.1038/nm0296-224 · Cited by 552
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
Clark, R. F., Hutton, M., Fuldner, M., Froelich, S., Karran, E., Talbot, C., Crook, R., Lendon, C., Prihar, G., He, C., et al. (1995) · Nature Genetics · doi:10.1038/ng1095-219 · Cited by 474

Show all 59 references

Research works printed but not linked: 1

Perez-Tur, 1996, Presenilin-1 polymorphism and Alzheimer's disease, Lancet, 347, 1560, 10.1016/S0140-6736(96)90716-3 · DOI

Sorted by citations

Items 101–161 of 161

Overexpression of a C-terminal fragment of Presenilin 1 delays anti-Fas induced apoptosis in Jurkat cells
Vézina, J., Tschopp, C., Andersen, E., & Müller, K. (1999) · Neuroscience Letters · doi:10.1016/s0304-3940(99)00097-x · Cited by 14
Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain
Queralt, R., Ezquerra, M., Castellví, M., Lleó, A., Blesa, R., & Oliva, R. (2001) · Neuroscience Letters · doi:10.1016/s0304-3940(01)01498-7 · Cited by 13
Melatonin: Therapeutic Intervention in Mild Cognitive Impairment and Alzheimer Disease
Grandy, J. K. (2013) · Journal of Neurology & Neurophysiology · doi:10.4172/2155-9562.1000148 · Cited by 13
The genetics of Parkinson's disease and parkinsonian syndromes
Bajaj, N. P. S., Shaw, C. E., Warner, T. T., & Chaudhuri, К. R. (1998) · Journal of Neurology · doi:10.1007/s004150050258 · Cited by 13
Notch, stroke and dementia
Gridley, T. (1996) · Nature · doi:10.1038/383673a0 · Cited by 13
No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a German population
Bagli, M., Papassotiropoulos, A., Schwab, S. G., Jessen, F., Rao, M. L., Maier, W., & Heun, R. (1999) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(99)00131-8 · Cited by 13
Characterization of the amphioxus presenilin gene in a high gene-density genomic region illustrates duplication during the vertebrate lineage
Martı́nez-Mir, A., Cañestro, C., Gonzàlez‐Duarte, R., & Albalat, R. (2001) · Gene · doi:10.1016/s0378-1119(01)00751-x · Cited by 12
Modeling Alzheimer’s and Other Age Related Human Diseases in Embryonic Systems
Lim, C. H., & Mathuru, A. S. (2017) · Journal of Developmental Biology · doi:10.3390/jdb6010001 · Cited by 11
Presenilin‐I polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type
Bornebroek, M., Haan, J., Backhovens, H., Deutz-Terlouw, P. P., van Buchem, M. A., den Broeck, M. V., Bakker, E., Roos, R. A. C., & Broeckhoven, C. V. (1997) · Annals of Neurology · doi:10.1002/ana.410420116 · Cited by 11
Identification of aDrosophilaPresenilin Homologue: Evidence of Alternatively Spliced Forms
Marfany, G., Del‐Favero, J., Valero, R., Jonghe, C. D., Woodrow, S., Hendriks, L., Broeckhoven, C. V., & Gonzàlez‐Duarte, R. (1998) · Journal of Neurogenetics · doi:10.3109/01677069809108554 · Cited by 11
Self-citation
Proteins Implicated In Alzheimer Disease
Ermekova, K. S., Chang, A., Zambrano, N., de Candia, P., Russo, T., & Sudol, M. (1998) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-4869-0_10 · Cited by 11
New Genetic Concepts and Stroke Prevention
Auburger, G. W. J. (1998) · Cerebrovascular Diseases · doi:10.1159/000047515 · Cited by 11
Chromosome instability in Alzheimer’s disease
Spremo‐Potparević, B., Živković, L., Plecas-Solarovic, B., & Bajić, V. (2011) · Archives of Biological Sciences · doi:10.2298/abs1103603p · Cited by 9
Minimotif Miner: A Computational Tool to Investigate Protein Function, Disease, and Genetic Diversity
Schiller, M. R. (2007) · Current Protocols in Protein Science · doi:10.1002/0471140864.ps0212s48 · Cited by 10
Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE)
Reznik‐Wolf, H., Treves, T. A., Shabtai, H., Aharon‐Peretz, J., Chapman, J., Davidson, M., Barkai, G., George‐Hyslop, P. S., Goldman, B., Korczyn, A. D., et al. (1998) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200160 · Cited by 10
Presenilin-1 mutations associated with familial Alzheimer’s disease do not disrupt protein transport from the endoplasmic reticulum to the Golgi apparatus
Tan, Y., Hong, J., Doan, T., McConlogue, L., & Maltese, W. A. (1998) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/s0925-4439(98)00031-3 · Cited by 10
Identification of novel risk genes for Alzheimer’s disease by integrating genetics from hippocampus
Li, J., Li, L., Cai, S., Song, K., & Hu, S. (2024) · Scientific Reports · doi:10.1038/s41598-024-78181-0 · Cited by 9
Cyclitols: From Basic Understanding to Their Association with Neurodegeneration
Derkaczew, M., Martyniuk, P., Osowski, A., & Wojtkiewicz, J. (2023) · Nutrients · doi:10.3390/nu15092029 · Cited by 9
The Three Neurogenetic Phases of Human Consciousness
Grandy, J. K. (2013) · CIIS Digital Commons (California Institute of Integral Studies) · Cited by 9
Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis
Πάνας, Μ., Karadima, G., Kalfakis, N., Psarrou, O., Floroskoufi, P., Kladi, A., Petersen, M. B., & Vassilopoulos, D. (2000) · Journal of Neurology · doi:10.1007/s004150070050 · Cited by 9
Analysis of the disease risk locus DXS1047 polymorphism in Brazilian Alzheimer patients
Nishimura, A. L., de Oliveira, J. R. M., Matioli, S. R., de Brito-Marques, P. R., Bahia, V. S., Nitríni, R., & Zatz, M. (2000) · Molecular Psychiatry · doi:10.1038/sj.mp.4000767 · Cited by 9
Biomarkers and Precision Medicine in Alzheimer’s Disease
Sagar, R., Pathak, P., Pandur, B., Kim, S. J., Li, J., & Mahairaki, V. (2021) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-78787-5_50 · Cited by 10
Isolation, Characterization, and In Silico Interaction Studies of Bioactive Compounds from Caesalpinia bonducella with Target Proteins Involved in Alzheimer’s Disease
Khoba, K., Kumar, S., Chatterjee, S., & Purty, R. S. (2022) · Applied Biochemistry and Biotechnology · doi:10.1007/s12010-022-03937-1 · Cited by 8
Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA
Theuns, J., Cruts, M., Del‐Favero, J., Goossens, D., Dauwerse, H. G., Wehnert, A., den Dunnen, J. T., & Broeckhoven, C. V. (1999) · Mammalian Genome · doi:10.1007/s003359901013 · Cited by 8
Self-citation
The Neurogenetic Substructures of Human Consciousness
Grandy, J. K. (2014) · Essays in Philosophy · doi:10.7710/1526-0569.1507 · Cited by 8
Abnormal Function of Metalloproteins Underlies Most Neurodegenerative Diseases
Kanninen, K. M., & White, A. R. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804562-6.00021-x · Cited by 6
Genetics of Alzheimer’s disease — routes to the pathophysiology
Lannfelt, L., & Nordstedt, C. (2000) · Springer eBooks · doi:10.1007/978-3-7091-6781-6_17 · Cited by 6
Presenilin 1 Immunostaining Using Well-Characterized Antibodies in Human Tissues
Yamada, T., & Takashima, A. (1997) · Experimental Neurology · doi:10.1006/exnr.1997.6661 · Cited by 6
No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients
Nishimura, A. L., Oliveira, J. R. M., Otto, P. A., Matioli, S. R., de Brito-Marques, P. R., Bahia, V. S., Nitríni, R., & Zatz, M. (2001) · Journal of Neural Transmission · doi:10.1007/s007020170076 · Cited by 6
Nanostructure-Based Molecules as Diagnostic and Theranostic Tools in Alzheimer’s Disease
Suthar, T., & Jain, K. (2023) · Springer eBooks · doi:10.1007/978-981-99-6038-5_6 · Cited by 5
No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a Tunisian population
Achouri-Rassas, A., Fredj, S. H., Khiari, H. M., Sahnoun, S., Bibi, A., Siala, H., Mrabet, A., & Messaoud, T. B. (2013) · Journal of Neural Transmission · doi:10.1007/s00702-013-0985-1 · Cited by 5
Molecular Mechanisms in Alzheimer's Disease.
Stavljenić-Rukavina, A. (2004) · Europe PMC (PubMed Central) · Cited by 5
Disease taxonomy - polygenic
Cookson, W. (1999) · British Medical Bulletin · doi:10.1258/0007142991902420 · Cited by 5
Chapter 2 Alzheimer's Disease
DeKosky, S. T., & López, O. L. (2007) · Blue books of neurology · doi:10.1016/s1877-184x(09)70053-x · Cited by 5
Alterations of acrocentric chromosomes in peripheral blood lymphocytes in patients with Alzheimer’s disease
Živković, L., Bajić, V., Žukovec, D., Pirković, A., & Spremo‐Potparević, B. (2013) · Archives of Biological Sciences · doi:10.2298/abs1302439z · Cited by 3
Presenilin-1 protein specifically expressed in Leydig cells with its expression level increased during rat testis development
Yamaguchi, F., Yamaguchi, K., & Tokuda, M. (2000) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/s1357-2725(99)00109-0 · Cited by 4
Localisation of presenilin 2 in human and rodent pancreatic islet β-cells; Met239Val presenilin 2 variant is not associated with diabetes in man
Jaikaran, E. T. A. S., Marcon, G., Lévesque, L., George‐Hyslop, P. S., Fraser, P. E., & Clark, A. (1999) · Journal of Cell Science · doi:10.1242/jcs.112.13.2137 · Cited by 4
Evidence for presenilin-1 involvement in amyloid angiopathy in the Alzheimer's disease-affected brain
Hayashi, Y., Fukatsu, R., Tsuzuki, K., Yoshida, T., Sasaki, N., Kimura, K., Yamaguchi, H., George‐Hyslop, P. S., Fujii, N., & Takahata, N. (1998) · Brain Research · doi:10.1016/s0006-8993(98)00027-4 · Cited by 4
Pleiotropy of Presenilins
Li, A. (2013) · Hereditary Genetics · doi:10.4172/2161-1041.1000e105 · Cited by 3
Genetics of Alzheimer's Disease
Honig, L. S. (1997) · Perspectives on Neurophysiology and Neurogenic Speech and Language Disorders · doi:10.1044/nnsld7.4.6 · Cited by 3
The Impact of Alzheimer Disease Genetics on Expert and Advanced Gerontological Nursing Practice
Schutte, D. L. (1998) · AACN Clinical Issues Advanced Practice in Acute & Critical Care · doi:10.1097/00044067-199811000-00006 · Cited by 4
Características clínicas de una familia con enfermedad de Alzheimer de inicio temprano asociada a una mutación (M139T) en el gen de la presenilina 1
Lleó, A., Blesa, R., Gendre, J., Castellvı́, M., Molinuevo, J. L., & Oliva, R. (2002) · Medicina Clínica · doi:10.1016/s0025-7753(02)72501-3 · Cited by 2
Visual exploration of genetic association with voxel-based imaging phenotypes in an MCI/AD study
Kim, S., Shen, L., Saykin, A. J., & West, J. D. (2009) · Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) · doi:10.1109/iembs.2009.5332570 · Cited by 2
Presenilins Interactome in Alzheimer’s Disease and Pathological Ageing
Wężyk, M., & Żekanowski, C. (2017) · InTech eBooks · doi:10.5772/intechopen.68748 · Cited by 1
MOLECULAR GENETICS OF ALZHEIMER DISEASE
Parvathy, S., & Buxbaum, J. D. (2002) · Cited by 1
An Investigation on the Fundamental Interaction between Abeta Peptides and the AT-Rich DNA
Zhao, L. N., Zheng, J., Chew, L. Y., & Mu, Y. (2015) · The Journal of Physical Chemistry B · doi:10.1021/acs.jpcb.5b00957 · Cited by 1
DNA Microarrays for Polymorphism Detection and Genotyping: Utility in the Understanding of Complex Neuropsychiatric Diseases
Sklar, P. B., Altshuler, D., Cargill, M., & Hirschhorn, J. N. (1999) · CNS Spectrums · doi:10.1017/s1092852900011743 · Cited by 1
Pharmacogenomic Biomarkers
Hockett, R. D., & Kirkwood, S. C. (2003) · Drugs and the pharmaceutical sciences · doi:10.1201/9780203911235.ch9 · Cited by 1
Meiotic Nondisjunction—The Major Cause of Trisomy 21
Kokotas, H., Grigoriadou, M., & Petersen, M. B. (2007) · Springer eBooks · doi:10.1007/7050_2007_034
Neurobiologic Basis of Age-Related Dementing Disorders
Hof, P. R., Bussière, T., Buxbaum, J. D., & Morrison, J. H. (2006) · Springer eBooks · doi:10.1007/0-387-22621-4_76
CHAPTER 5.6 Identification and functional analysis of genes and genetic risk factors in Alzheimer's disease
Jonghe, C. D., & Broeckhoven, C. V. (1999) · Techniques in the behavioral and neural sciences · doi:10.1016/s0921-0709(99)80063-7
Presenilin-1 Immunoreactivity in Human Neurodegenerative Diseases
Giannakopoulos, P., K�vari, E., Canuto, A., Hof, P. R., & Bouras, C. (1999) · KARGER eBooks · doi:10.1159/000061433
Presenilins and β-Amyloid Precursor Protein-Proteolytically Processed Proteins Involved in the Generation of Alzheimer’s Amyloid β Peptide
Haass, C. (2000) · Handbook of experimental pharmacology · doi:10.1007/978-3-642-57092-6_20
Klinische Neurogenetik: DNA-Diagnostik und Beratungsaspekte
Epplen, J. T., & Hoffjan, S. (2011) · Springer eBooks · doi:10.1007/978-3-642-16920-5_3
The implications of genetic studies on the pathogenesis of Alzheimer's disease
Sasaki, H. (1998) · Neuropathology · doi:10.1111/j.1440-1789.1998.tb00086.x
Analyse structurale et fonctionnelle de la préséniline-1 humaine : implications dans la maladie d'Alzheimer
Hébert, S. S. (2003) · Corpus Université Laval (Université Laval)
Klinische Neurogenetik: DNA-Diagnostik und Beratungsaspekte
Epplen, J. T., & Haupt, A. (1999) · Springer eBooks · doi:10.1007/978-3-662-08118-1_3
Neuropathology of Depression in Alzheimer's Disease: Current Knowledge and the Potential for New Treatments
Khundakar, A. A., & Thomas, A. J. (2015) · Advances in Alzheimer's disease · doi:10.3233/978-1-61499-542-5-187 · Cited by 1
Chromosome Missegregation in Alzheimer's Disease Caused by Presenilin 1
Boeras, D. I. (2005) · Digital Commons - University of South Florida (University of South Florida)
Studies on the Role of Cellular Heparan Sulfate on Tau Pathology in Alzheimer's Disease and Related Tauopathies
Sepulveda-Diaz, J. E. (2013) · theses.fr (ABES) · doi:10.70675/56c42bcbz41dfz432bzbb78z77110b373285
Solving the mechanism of Notch activation: a geneticist's perspective
Greenwald, I. (2026) · Genetics · doi:10.1093/genetics/iyag158

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
DOI: 10.1093/hmg/5.supplement_1.1449
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

The presenilin genes: a new gene family involved in Alzheimer disease pathology

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Citations

Cites

Cited by

Related

Metadata

Record

About these checks