The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Amyloid β protein (Aβ) deposition in chromosome 14–linked Alzheimer's disease: Predominance of Aβ42(43)
Abstract
Amyloid beta protein (Abeta) deposition was investigated in the frontal cortex of 8 cases of (genetically confirmed) chromosome 14-linked Alzheimer's disease (AD) using the end-specific monoclonal antibodies BA27 and BC05 to detect the presence of Abeta40 and Abeta42(43), respectively. In all patients, Abeta42(43) was the predominant peptide species present. The total amount of Abeta40 and Abeta42(43) deposited was more than twice the amount deposited in cases of sporadic AD of similar disease duration, although the ratio between the extent of Abeta40 and Abeta42(43) deposition was unaltered, compared with sporadic AD. Therefore, (one of) the effects of the mutations in the presenilin 1:PS-1 (S182) gene may be to cause or at least promote an early and excessive deposition of Abeta42(43) within the brain, a property shared with other inherited forms of AD, such as those due to amyloid precursor protein mutations, and Down's syndrome (trisomy 21).
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Human PSEN1 mutation carriers have notable BBB breakdown and cerebrovascular dysfunction including cerebellar amyloid angiopathy and CAA (143, 183, 274, 280, 354, 389, 440, 500, 544, 573, 639, 668); disrupted meningeal, subpial, and cortical arterioles (274, 389, 440); degeneration of pericytes and SMCs (573); cerebral perivascular amyloid deposits (25, 274, 289, 354, 573, 668); and diminished FDG”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [389]
In the citing paper
“Particularly, cerebrovascular pathology with BBB breakdown was shown by neuropathological studies in patients with PSEN1 T113-114 insertion (544), P117L (573, 639), M139V (183, 389), M146V (389), L153V (289), H163R (280), E184D (668), G209V (389), A260V (389), C260T (274), E280A (354), L282V (143), C285T (274), and L420R (440) missense mutations, and 𝚫 e9 deletion (280).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [389]
Citations
Cites
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
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
Self-citationRogaev, 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
Jarrett, J. T., Berger, E. P., & Lansbury, P. T. (1993) · Biochemistry · doi:10.1021/bi00069a001 · Cited by 2,022
Iwatsubo, T., Odaka, A., Suzuki, N., Mizusawa, H., Nukina, N., & Ihara, Y. (1994) · Neuron · doi:10.1016/0896-6273(94)90458-8 · Cited by 1,774
Self-citationSuzuki, N., Cheung, T. T., Cai, X.-D., Odaka, A., Otvos, L., Eckman, C., Golde, T. E., & Younkin, S. G. (1994) · Science · doi:10.1126/science.8191290 · Cited by 1,471
Mutation of the Alzheimer's Disease Amyloid Gene in Hereditary Cerebral Hemorrhage, Dutch Type
Levy, E., Carman, M. D., Fernandez-Madrid, I. J., Power, M. D., Lieberburg, I. M., van Duinen, S. G., Bots, G. T. A. M., Luyendijk, W., & Frangione, B. (1990) · Science · doi:10.1126/science.2111584 · Cited by 1,399
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
Self-citationA 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
Self-citationHendriks, L., van Duijn, C. M., Cras, P. P., Cruts, M., Hul, W. V., van Harskamp, F., Warren, A., McInnis, M. G., Antonarakis, S. E., Martin, J., et al. (1992) · Nature Genetics · doi:10.1038/ng0692-218 · Cited by 741
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
Self-citationGenetic evidence for a novel familial Alzheimer's disease locus on chromosome 14
George‐Hyslop, P. S., Haines, J. L., Rogaev, E. I., Mortilla, M., Vaula, G., Pericak‐Vance, M. A., Foncin, J. P., Montesi, M. P., Bruni, A. C., Sorbi, S., et al. (1992) · Nature Genetics · doi:10.1038/ng1292-330 · Cited by 467
Amyloid β protein (Aβ) deposition: Aβ42(43) precedes Aβ40 in down Syndrome
Iwatsubo, T., Mann, D. M. A., Odaka, A., Suzuki, N., & Ihara, Y. (1995) · Annals of Neurology · doi:10.1002/ana.410370305 · Cited by 386
Self-citationMapping of a gene predisposing to early–onset Alzheimer's disease to chromosome 14q24.3
Broeckhoven, C. V., Backhovens, H., Cruts, M., Winter, G. D., Bruyland, M., Cras, P. P., & Martin, J. (1992) · Nature Genetics · doi:10.1038/ng1292-335 · Cited by 328
van Duinen, S. G., Castaño, E. M., Prelli, F., Bots, G. T. A. M., Luyendijk, W., & Frangione, B. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.16.5991 · Cited by 310
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease
Campion, D., Flaman, J., Brice, A., Hannequin, D., Dubois, B., Martin, C., Moreau, V., Charbonnier, F., Didierjean, O., Tardieu, S., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.12.2373 · Cited by 277
Mullan, M., Houlden, H., Windelspecht, M., Fidani, L., Lombardi, C., Diaz, P., Rossor, M. N., Crook, R., Hardy, J., Duff, K., et al. (1992) · Nature Genetics · doi:10.1038/ng1292-340 · Cited by 277
Self-citationA mutation in Alzheimerʼs disease destroying a splice acceptor site in the presenilin-1 gene
Pérez‐Tur, J., Froelich, S., Prihar, G., Crook, R., Baker, M., Duff, K., Wragg, M. A., Busfield, F., Lendon, C. L., Clark, R. F., et al. (1995) · Neuroreport · doi:10.1097/00001756-199512000-00071 · Cited by 264
Self-citationRoses, A. D. (1994) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199409000-00002 · Cited by 252
Presenilins and Alzheimer disease
Broeckhoven, C. V. (1995) · Nature Genetics · doi:10.1038/ng1195-230 · Cited by 187
Mann, D. M. A., Iwatsubo, T., Ihara, Y., Cairns, N. J., Lantos, P. L., Bogdanović, N., Lannfelt, L., Winblad, B. G., Maat–Schieman, M. L. C., & Rossor, M. N. (1996) · Europe PMC (PubMed Central) · Cited by 184
Self-citationMolecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3
Cruts, M., Backhovens, H., Wang, S., Gassen, G. V., Theuns, J., Jonghe, C. D., Wehnert, A., Voecht, J. D., Winter, G. D., Cras, P. P., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.12.2363 · Cited by 180
Tamaoka, A., Odaka, A., Ishibashi, Y., Usami, M., Sahara, N., Suzuki, N., Nukina, N., Mizusawa, H., Shoji, S., & Kanazawa, I. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(20)30050-8 · Cited by 168
Phenotypic heterogeneity in familial alzheimer's disease: A study of 24 kindreds
Bird, T. D., Sumi, S. M., Nemens, E. J., Nochlin, D., Schellenberg, G. D., Lampe, T. H., Sadovnick, A. D., Chui, H. C., Miner, G. W., & Tinklenberg, J. R. (1989) · Annals of Neurology · doi:10.1002/ana.410250104 · Cited by 168
Self-citationFamilial Alzheimer's chromosome 14 mutations
Wasco, W., Pettingell, W. P., Jondro, P. D., Schmidt, S. D., Gurubhagavatula, S., Rodes, L., Di-Blasi, T., Romano, D., Guénette, S. Y., Kovacs, D. M., et al. (1995) · Nature Medicine · doi:10.1038/nm0995-848a · Cited by 109
Fukumoto, H., Asami-Odaka, A., Suzuki, N., Shimada, H., Ihara, Y., & Iwatsubo, T. (1996) · Europe PMC (PubMed Central) · Cited by 108
Self-citationPhenotype of chromosome 14–linked familial Alzheimer's disease in a large kindred
Lampe, T. H., Bird, T. D., Nochlin, D., Nemens, E. J., Risse, S. C., Sumi, S. M., Koerker, R. M., Leaird, B., Wier, M., & Raskind, M. A. (1994) · Annals of Neurology · doi:10.1002/ana.410360308 · Cited by 102
Self-citationChromosome 14–encoded Alzheimer's disease: Genetic and clinicopathological description
Haltia, M., Viitanen, M. H., Sulkava, R. O., Ala‐Hurula, V., Pöyhönen, M., Goldfarb, L. G., Brown, P., Levy, E., Houlde, H., Crook, R., et al. (1994) · Annals of Neurology · doi:10.1002/ana.410360307 · Cited by 98
Self-citationAmyloid precursor protein mutation causes Alzheimer's disease in a Swedish family
Lannfelt, L., Bogdanović, N., Appelgren, H., Axelman, K., Lilius, L., Hansson, G. K., Schenk, D., Hardy, J., & Winblad, B. G. (1994) · Neuroscience Letters · doi:10.1016/0304-3940(94)90463-4 · Cited by 89
Self-citationMULLAN, M. J., Tsuji, S., Miki, T., Katsuya, T., Naruse, S., Kaneko, K., Shimizu, T., Kojima, T., Nakano, I., Ogihara, T., et al. (1993) · Neurobiology of Aging · doi:10.1016/0197-4580(93)90099-w · Cited by 89
Self-citationChromosome 14 linked familial Alzheimer's disease
Kennedy, A. M., Newman, S., Frackowiak, R. S. J., Cunningham, V. J., Roques, P. K., Stevens, J., Neary, D., Bruton, C. J., Warrington, E. K., & Rossor, M. N. (1995) · Brain · doi:10.1093/brain/118.1.185 · Cited by 88
Self-citationEarly‐onset Alzheimer's disease in 2 large Belgian families
Martin, J. J., Gheuens, J., Bruyland, M., Cras, P. P., Vandenberghe, A., Masters, C. L., Beyreuther, K. T., Dom, R., Ceuterick, C., Lübke, U., et al. (1991) · Neurology · doi:10.1212/wnl.41.1.62 · Cited by 83
Mak, K., Yang, F., Vinters, H. V., Frautschy, S. A., & Cole, G. M. (1994) · Brain Research · doi:10.1016/0006-8993(94)91725-6 · Cited by 80
Misserise mutation of S182 gene in Italian families with early-onset Alzheimer's disease
Sorbi, S., Nacmias, B., Forleo, P., Piacentini, S., Sherrington, R. P., Rogaev, E. I., & Amaducci, L. A. (1995) · The Lancet · doi:10.1016/s0140-6736(95)92809-x · Cited by 66
Missense mutation of S182 gene in Japanese familial Alzheimer's disease
Tanahashi, H., Mitsunaga, Y., Takahashi, K., Tasaki, H., Watanabe, S., & Tabira, T. (1995) · The Lancet · doi:10.1016/s0140-6736(95)92810-3 · Cited by 47
Murphy, G. M., Forno, L. S., Higgins, L. S., Scardina, J. M., Eng, L. F., & Cordell, B. (1994) · PubMed Central · Cited by 44
Research works printed but not linked: 1
- Mann DMA, 1996, Predominant deposition of Aβ42(43) in plaques in cases of Alzheimer's disease and hereditary cerebral haemorrhage associated with mutations in the APP gene, Am J Pathol, 148, 1257
Cited by
Sorted by citations
Alzheimer's Disease: Genes, Proteins, and Therapy
Selkoe, D. J. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.2.741 · Cited by 6,063
Blood-Brain Barrier: From Physiology to Disease and Back
Sweeney, M. D., Zhao, Z., Montagne, A., Nelson, A. R., & Zlokovic, B. V. (2019) · Physiological Reviews · doi:10.1152/physrev.00050.2017 · Cited by 2,312
Translating cell biology into therapeutic advances in Alzheimer's disease
Selkoe, D. J. (1999) · Nature · doi:10.1038/399a023 · Cited by 1,166
Amyloid, the presenilins and Alzheimer’s disease
Hardy, J. (1997) · Trends in Neurosciences · doi:10.1016/s0166-2236(96)01030-2 · Cited by 1,370
Self-citationThe Amyloid Beta Peptide: A Chemist’s Perspective. Role in Alzheimer’s and Fibrillization
Hamley, I. W. (2012) · Chemical Reviews · doi:10.1021/cr3000994 · Cited by 892
Metadata
- Authors
- Mann, D. M. A., Iwatsubo, T., Cairns, N. J., Lantos, P. L., Nochlin, D., Sumi, S. M., Bird, T. D., Poorkaj, P., Hardy, J., Hutton, M., Prihar, G., Crook, R., Rossor, M. N., & Haltia, M.
- Affiliations
- University of Manchester (GB)
- The University of Tokyo (JP)
- University of Washington (US)
- University of South Florida (US)
- National Hospital for Neurology and Neurosurgery (GB)
- University of Helsinki (FI)
- Corresponding author
- Mann, D. M. A.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1996-08
- Volume
- 40
- Issue
- 2
- Pages
- 149-156
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2076606883
- Cited by
- 184
- References
- 36
- Citations by year
- 2026: 1 · 2024: 1 · 2022: 1 · 2021: 3 · 2020: 5 · 2019: 2 · 2018: 5 · 2017: 1 · 2016: 3 · 2015: 2 · 2014: 5 · 2013: 3 · 2012: 3
- FWCI
- 15.51
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (AG 05136, U01AG006781, AG06781-06, P50AG005136)
- 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
- amyloid-beta, Aβ40, presenilin 1 mutations, frontal cortex, amyloid deposition, sporadic Alzheimer's disease, familial Alzheimer's disease, Down syndrome, amyloid precursor protein mutations
- MeSH terms
- Adult, Alzheimer Disease, Antibodies, Monoclonal, Apolipoproteins E, Chromosomes, Human, Pair 14, Female, Frontal Lobe, Humans, Male, Membrane Proteins, Middle Aged, Amyloid beta-Peptides, Amyloid beta-Protein Precursor, Neurofibrillary Tangles, Point Mutation, Presenilin-1
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