Cited by 1,513Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

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A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

Mullan, Mike, Crawford, Fiona, Axelman, Karin, Houlden, Henry, Lilius, Lena, Winblad, Bengt, Lannfelt, Lars·1992·Nature Genetics

DOI 10.1038/ng0892-345

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Abstract

Mutations at codon 717 in exon 17 of the beta-amyloid precursor protein (APP) gene have previously been shown to segregate with early onset Alzheimer's disease in some families. We have identified a double mutation at codons 670 and 671 (APP 770 transcript) in exon 16 which co-segregates with the disease in two large (probably related) early-onset Alzheimer's disease families from Sweden. Two base pair transversions (G to T, A to C) from the normal sequence predict Lys to Asn and Met to Leu amino acid substitutions at codons 670 and 671 of the APP transcript. This mutation occurs at the amino terminal of beta-amyloid and may be pathogenic because it occurs at or close to the endosomal/lysosomal cleavage site of the molecule. Thus, pathogenic mutations in APP frame the beta-amyloid sequence.

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Clinical diagnosis of Alzheimer's disease: Report of the NINCDS‐ADRDA Work Group* under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984) · Neurology · doi:10.1212/wnl.34.7.939 · Cited by 27,915
Alzheimer's disease: the amyloid cascade hypothesis
Hardy, J. A., & Higgins, G. A. (1992) · Science · doi:10.1126/science.1566067 · Cited by 7,484
Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein
Glenner, G. G., & Wong, C. W. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(84)80190-4 · Cited by 5,404
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659
Self-citation
Amyloid plaque core protein in Alzheimer disease and Down syndrome.
Masters, C. L., Simms, G., Weinman, N. A., Multhaup, G., McDonald, B. L., & Beyreuther, K. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.12.4245 · Cited by 4,431
The molecular pathology of Alzheimer's disease
Selkoe, D. J. (1991) · Neuron · doi:10.1016/0896-6273(91)90052-2 · Cited by 2,708
Cleavage of Amyloid β Peptide During Constitutive Processing of Its Precursor
Esch, F. S., Keim, P. S., Beattie, E. C., Blacher, R. W., Culwell, A. R., Oltersdorf, T., McClure, D., & Ward, P. J. (1990) · Science · doi:10.1126/science.2111583 · Cited by 1,403
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
Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene
Chartier-Harlin, M.-C., Crawford, F., Houlden, H., Warren, A., Hughes, D., Fidani, L., Goate, A., Rossor, M., Roques, P., Hardy, J., et al. (1991) · Nature · doi:10.1038/353844a0 · Cited by 1,214
Self-citation
A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's Disease
Murrell, J. R., Farlow, M. R., Ghetti, B. F., & Benson, M. D. (1991) · Science · doi:10.1126/science.1925564 · Cited by 1,142

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Research works printed but not linked: 2

Hardy, J. et al. Lancet 337, 1342–1343 (1991).
Weeks, D.E., Ott, J. & Lathrop, G M. Am. J. hum. Genet. 47(3), A204 (1990).

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Citron, M., Oltersdorf, T., Haass, C., McConlogue, L., Hung, A. Y., Seubert, P., Vigo-Pelfrey, C., Lieberburg, I., & Selkoe, D. J. (1992) · Nature · doi:10.1038/360672a0 · Cited by 1,757
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Sinha, S., Anderson, J. P., Barbour, R., Basi, G. S., Caccavello, R., Davis, D., Doan, M., Dovey, H. F., Frigon, N., Hong, J., et al. (1999) · Nature · doi:10.1038/990114 · Cited by 1,612
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Bush, A., Pettingell, W., Multhaup, G., d Paradis, M., Vonsattel, J., Gusella, J., Beyreuther, K., Masters, C., & Tanzi, R. (1994) · Science · doi:10.1126/science.8073293 · Cited by 1,522
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Self-citation
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Moechars, D., Dewachter, I., Lorent, K., Reversé, D., Baekelandt, V., Naidu, A., Tesseur, I., Spittaels, K., Haute, C. V. D., Checler, F., et al. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.10.6483 · Cited by 668
Untitled work
(1997) · doi:10.1073/pnas.94.4.1550 · Cited by 535
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Yan, R., & Vassar, R. J. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70276-x · Cited by 645
Proteolytic processing and cell biological functions of the amyloid precursor protein
Strooper, B. D., & Annaert, W. G. (2000) · Journal of Cell Science · doi:10.1242/jcs.113.11.1857 · Cited by 643
Membrane protein secretases
Hooper, N. M., Karran, E. H., & Turner, A. J. (1997) · Biochemical Journal · doi:10.1042/bj3210265 · Cited by 613
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Price, D. L., & Sisodia, S. S. (1998) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.21.1.479 · Cited by 581
Secretion of β-amyloid precursor protein cleaved at the amino terminus of the β-amyloid peptide
Seubert, P. A., Oltersdorf, T., Lee, M., Barbour, R., Blomquist, C. L., Davis, D. L., Bryant, K., Fritz, L. C., Galasko, D., Thal, L. J., et al. (1993) · Nature · doi:10.1038/361260a0 · Cited by 560
Apolipoprotein E ϵ4 and cerebral hemorrhage associated with amyloid angiopathy
Greenberg, S. M., Rebeck, G. W., Vonsattel, J. P., Gómez‐Isla, T., & Hyman, B. T. (1995) · Annals of Neurology · doi:10.1002/ana.410380219 · Cited by 547
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Katayama, T., Imaizumi, K., Sato, N., Miyoshi, K., Kudo, T., Hitomi, J., Morihara, T., Yoneda, T., Gomi, F., Mori, Y., et al. (1999) · Nature Cell Biology · doi:10.1038/70265 · Cited by 527
Age-related CNS disorder and early death in transgenic FVB/N mice overexpressing Alzheimer amyloid precursor proteins
Hsiao, K., Borchelt, D., Olson, K., Johannsdottir, R., Kitt, C. A., Yunis, W. S., Xu, S., Eckman, C., Younkin, S. G., Price, D., et al. (1995) · Neuron · doi:10.1016/0896-6273(95)90107-8 · Cited by 527
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Irizarry, M. C., Soriano, F., McNamara, M., Page, K. J., Schenk, D., Games, D., & Hyman, B. T. (1997) · The Journal of Neuroscience · doi:10.1523/jneurosci.17-18-07053.1997 · Cited by 497
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Karch, C. M., Cruchaga, C., & Goate, A. M. (2014) · Neuron · doi:10.1016/j.neuron.2014.05.041 · Cited by 473
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Näslund, J., Schierhorn, A., Hellman, U., Lannfelt, L., Roses, A. D., Tjernberg, L. O., Silberring, J., Gandy, S. E., Winblad, B., & Greengard, P. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.18.8378 · Cited by 468
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van Duijn, C. M., de Knijff, P., Cruts, M., Wehnert, A., Havekes, L. M., Albert Hofman, D., & Broeckhoven, C. V. (1994) · Nature Genetics · doi:10.1038/ng0594-74 · Cited by 459
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Eimer, W. A., & Vassar, R. (2013) · Molecular Neurodegeneration · doi:10.1186/1750-1326-8-2 · Cited by 425
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Background
The toxicity in vitro of β-amyloid protein
Iversen, L. L., Mortishire‐Smith, R. J., Pollack, S. J., & Shearman, M. S. (1995) · Biochemical Journal · doi:10.1042/bj3110001 · Cited by 428
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A new amyloid β variant favoring oligomerization in Alzheimer's‐type dementia
Tomiyama, T., Nagata, T., Shimada, H., Teraoka, R., Fukushima, A., Kanemitsu, H., Takuma, H., Kuwano, R., Imagawa, M., Ataka, S., et al. (2008) · Annals of Neurology · doi:10.1002/ana.21321 · Cited by 432
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Vassar, R. J. (2014) · Alzheimer s Research & Therapy · doi:10.1186/s13195-014-0089-7 · Cited by 421
Probing the biology of Alzheimer’s disease in mice
Ashe, K. H., & Zahs, K. R. (2010) · Neuron · doi:10.1016/j.neuron.2010.04.031 · Cited by 413
ALZHEIMER'S DISEASE: Genetic Studies and Transgenic Models
Price, D. L., Tanzi, R. E., Borchelt, D. R., & Sisodia, S. S. (1998) · Annual Review of Genetics · doi:10.1146/annurev.genet.32.1.461 · Cited by 406
Activation of protein kinase C inhibits cellular production of the amyloid beta-protein.
Hung, A. Y., Haass, C., Nitsch, R. M., Qiu, W. Q., Citron, M., Wurtman, R. J., Growdon, J. H., & Selkoe, D. J. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)49409-x · Cited by 400
Phenolic Compounds Prevent Alzheimer’s Pathology through Different Effects on the Amyloid-β Aggregation Pathway
Hamaguchi, T., Ono, K., Murase, A., & Yamada, M. (2009) · American Journal Of Pathology · doi:10.2353/ajpath.2009.090417 · Cited by 403
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase
Sun, L., Zhou, R., Yang, G., & Shi, Y. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1618657114 · Cited by 382
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid β protein ending at the 42nd (or 43rd) residue
Tomita, T., Maruyama, K., Saido, T. C., Kume, H., Shinozaki, K., Tokuhiro, S., Capell, A., Walter, J., Grünberg, J., Haass, C., et al. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.5.2025 · Cited by 385
A potential role for apoptosis in neurodegeneration and Alzheimer's disease
Cotman, C. W., & Anderson, A. J. (1995) · Molecular Neurobiology · doi:10.1007/bf02740836 · Cited by 378
Early-onset and Robust Cerebral Microvascular Accumulation of Amyloid β-Protein in Transgenic Mice Expressing Low Levels of a Vasculotropic Dutch/Iowa Mutant Form of Amyloid β-Protein Precursor
Davis, J., Xu, F., Deane, R., Romanov, G., Previti, M. L., Zeigler, K., Zlokovic, B. V., & Van Nostrand, W. E. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m312946200 · Cited by 373
A Critical Function for β-Amyloid Precursor Protein in Neuronal Migration Revealed by In Utero RNA Interference
Young-Pearse, T. L., Bai, J., Chang, R., Zheng, J. B., LoTurco, J. J., & Selkoe, D. J. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.4701-07.2007 · Cited by 369
BACE1: The β-Secretase Enzyme in Alzheimer's Disease
Vassar, R. J. (2004) · Journal of Molecular Neuroscience · doi:10.1385/jmn:23:1-2:105 · Cited by 383
Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation.
Citron, M., Vigo-Pelfrey, C., Teplow, D. B., Miller, C., Schenk, D., Johnston, J., Winblad, B., Venizelos, N., Lannfelt, L., & Selkoe, D. J. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.25.11993 · Cited by 366
Self-citation
β-Site Amyloid Precursor Protein Cleaving Enzyme 1 Levels Become Elevated in Neurons around Amyloid Plaques: Implications for Alzheimer's Disease Pathogenesis
Zhao, J., Fu, Y., Yasvoina, M., Shao, P., Hitt, B., O'Connor, T., Logan, S., Maus, E., Citron, M., Berry, R., et al. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.4396-06.2007 · Cited by 365
A vector for expressing foreign genes in the brains and hearts of transgenic mice
Borchelt, D. R., Davis, J., Fischer, M., Lee, M. K., Slunt, H. H., Ratovitsky, T., Regard, J., Copeland, N. G., Jenkins, N. A., Sisodia, S. S., et al. (1996) · Genetic Analysis: Biomolecular Engineering · doi:10.1016/s1050-3862(96)00167-2 · Cited by 317
BACE1 (β-secretase) inhibitors for the treatment of Alzheimer's disease
Ghosh, A. K., & Osswald, H. L. (2014) · Chemical Society Reviews · doi:10.1039/c3cs60460h · Cited by 367
Tau Aggregation and Its Interplay with Amyloid-β
Nisbet, R. M., Polanco, J.-C., Ittner, L. M., & Götz, J. (2015) · Acta Neuropathologica · doi:10.1007/s00401-014-1371-2 · Cited by 359
Amyloid-β Aggregation
Finder, V. H., & Glockshuber, R. (2007) · Neurodegenerative Diseases · doi:10.1159/000100355 · Cited by 367
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.
Wilhelmsen, K. C., Lynch, T., Pavlou, E., Higgins, M., & Nygaard, T. G. (1994) · PubMed · Cited by 347
Nicotinic receptor abnormalities of Alzheimer’s disease: therapeutic implications
Nordberg, A. K. (2001) · Biological Psychiatry · doi:10.1016/s0006-3223(00)01125-2 · Cited by 339
Function, therapeutic potential and cell biology of BACE proteases: current status and future prospects
Vassar, R., Kuhn, P., Haass, C., Kennedy, M. E., Rajendran, L., Wong, P. C., & Lichtenthaler, S. F. (2014) · Journal of Neurochemistry · doi:10.1111/jnc.12715 · Cited by 311
Mapping 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
Causative and susceptibility genes for Alzheimer’s disease: a review
Rocchi, A., Pellegrini, S., Siciliano, G., & Murri, L. (2003) · Brain Research Bulletin · doi:10.1016/s0361-9230(03)00067-4 · Cited by 326
A Large Panel of Isogenic APP and PSEN1 Mutant Human iPSC Neurons Reveals Shared Endosomal Abnormalities Mediated by APP β-CTFs, Not Aβ
Kwart, D., Gregg, A., Scheckel, C., Murphy, E. A., Paquet, D., Duffield, M. D., Fak, J. J., Olsen, O., Darnell, R. B., & Tessier‐Lavigne, M. (2019) · Neuron · doi:10.1016/j.neuron.2019.07.010 · Cited by 327
Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid beta-protein precursor
Haass, C., Hung, A. Y., Selkoe, D. J., & Teplow, D. B. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)32503-6 · Cited by 319
Butyrylcholinesterase in the life cycle of amyloid plaques
Guillozet-Bongaarts, A. L., Mesulam, M. M., Smiley, J. F., & Mash, D. C. (1997) · Annals of Neurology · doi:10.1002/ana.410420613 · Cited by 313
Say NO to Alzheimer's disease: the putative links between nitric oxide and dementia of the Alzheimer's type
Law, A. (2001) · Brain Research Reviews · doi:10.1016/s0165-0173(00)00051-5 · Cited by 314
Genes associated with Alzheimer's disease: an overview and current status
Giri, M., Lü, Y., & Zhang, M. (2016) · Clinical Interventions in Aging · doi:10.2147/cia.s105769 · Cited by 311
Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice
Lamb, B. T., Sisodia, S. S., Lawler, A. M., Slunt, H. H., Kitt, C. A., Kearns, W. G., Pearson, P. L., Price, D. L., & Gearhart, J. D. (1993) · Nature Genetics · doi:10.1038/ng0993-22 · Cited by 311
Acceleration of Amyloid Fibril Formation by Specific Binding of Aβ-(1–40) Peptide to Ganglioside-containing Membrane Vesicles
Choo, L.-P., Garzon-Rodriguez, W., Glabe, C. G., & Surewicz, W. K. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.37.22987 · Cited by 317
Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry
Lewczuk, P., Riederer, P. F., O’Bryant, S. E., Verbeek, M. M., Dubois, B., Visser, P. J., Jellinger, K. A., Engelborghs, S., Ramírez, A., Parnetti, L., et al. (2017) · The World Journal of Biological Psychiatry · doi:10.1080/15622975.2017.1375556 · Cited by 318
Self-citation
Endogenous Neuroprotection Factors and Traumatic Brain Injury: Mechanisms of Action and Implications for Therapy
Mattson, M. P., & Scheff, S. W. (1994) · Journal of Neurotrauma · doi:10.1089/neu.1994.11.3 · Cited by 308

Authors: Mullan, M., Crawford, F., Axelman, K., Houlden, H., Lilius, L., Winblad, B., & Lannfelt, L.
Affiliations: University of South Florida (US)
Karolinska Institutet (SE)
St Mary's Hospital (GB)
ORCID: Crawford, Fiona
Houlden, Henry
Winblad, Bengt
Lannfelt, Lars
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1992-08
Volume: 1
Issue: 5
Pages: 345-347
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0892-345
OpenAlex: W2030641075
Cited by: 1,513
References: 22
Citations by year: 2026: 24 · 2025: 30 · 2024: 50 · 2023: 47 · 2022: 49 · 2021: 46 · 2020: 52 · 2019: 56 · 2018: 48 · 2017: 48 · 2016: 47 · 2015: 31 · 2014: 62 · 2013: 31 · 2012: 32
FWCI: 49.77
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
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
Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Keywords: Alzheimer's disease, APP gene, amyloid-beta, early-onset familial Alzheimer's disease, Swedish families
MeSH terms: Alzheimer Disease, Amino Acid Sequence, Base Sequence, Brain, Codon, Exons, Female, Humans, Genetic Linkage, Male, Middle Aged, Molecular Sequence Data, Oligodeoxyribonucleotides, Pedigree, Transcription, Genetic, Genetic Variation, Amyloid beta-Protein Precursor, Point Mutation

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A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

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