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Cited by 1,127

The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's Disease

Murrell, Jill, Farlow, Martin, Ghetti, Bernardino, Benson, Merrill D.·1991·Science
DOI 10.1126/science.1925564
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Abstract

Alzheimer's disease is a form of localized amyloidosis characterized by cerebral cortical amyloid plaques, neurofibrillary tangles, and amyloid deposits within the walls of leptomeningeal vessels. Although most cases of Alzheimer's disease are sporadic, kindreds with autosomal-dominant inheritance of the syndrome suggest that a single mutation may be important in pathogenesis. Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein. This mutation correlates with the presence of Alzheimer's disease in all patients in this study, and may be the inherited factor causing both amyloid fibril formation and dementia.

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Cites

Show all 3 references

Research works printed but not linked: 23

  1. Christmanson, L., Amyloid and Amyloidosis: 635 (1990).
  2. DOHURA, K, PRO-]LEU CHANGE AT POSITION-102 OF PRION PROTEIN IS THE MOST COMMON BUT NOT THE SOLE MUTATION RELATED TO GERSTMANN-STRAUSSLER SYNDROME, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 163: 974 (1989). · DOI · Paper page
  3. GHISO, J, AMYLOID FIBRILS IN HEREDITARY CEREBRAL-HEMORRHAGE WITH AMYLOIDOSIS OF ICELANDIC TYPE IS A VARIANT OF GAMMA-TRACE BASIC-PROTEIN (CYSTATIN-C), PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 83: 2974 (1986).
  4. 10.1016/S0006-291X(84)80190-4 · DOI · Paper page
  5. 10.1016/0006-291X(84)91209-9 · DOI · Paper page
  6. 10.1126/science.3810169 · DOI · Paper page
  7. GYLLENSTEN, U.B., GENERATION OF SINGLE-STRANDED-DNA BY THE POLYMERASE CHAIN-REACTION AND ITS APPLICATION TO DIRECT SEQUENCING OF THE HLA-DQA LOCUS, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 85: 7652 (1988).
  8. HSIAO, K, LINKAGE OF A PRION PROTEIN MISSENSE VARIANT TO GERSTMANN-STRAUSSLER SYNDROME, NATURE 338: 342 (1989). · DOI · Paper page
  9. KITAGUCHI, N, ENZYME SPECIFICITY OF PROTEINASE-INHIBITOR REGION IN AMYLOID PRECURSOR PROTEIN OF ALZHEIMERS-DISEASE - DIFFERENT PROPERTIES COMPARED WITH PROTEASE NEXIN-I, BIOCHIMICA ET BIOPHYSICA ACTA 1038: 105 (1990). · DOI
  10. KITAGUCHI, N, NOVEL PRECURSOR OF ALZHEIMERS-DISEASE AMYLOID PROTEIN SHOWS PROTEASE INHIBITORY ACTIVITY, NATURE 331: 530 (1988). · DOI · Paper page
  11. LEMAIRE, H.G., THE PREA4695 PRECURSOR PROTEIN OF ALZHEIMERS-DISEASE A4-AMYLOID IS ENCODED BY 16 EXONS, NUCLEIC ACIDS RESEARCH 17: 517 (1989). · DOI
  12. LEVY, E, STROKE IN ICELANDIC PATIENTS WITH HEREDITARY AMYLOID ANGIOPATHY IS RELATED TO A MUTATION IN THE CYSTATIN-C GENE, AN INHIBITOR OF CYSTEINE PROTEASES, JOURNAL OF EXPERIMENTAL MEDICINE 169: 1771 (1989). · DOI
  13. NARUSE, S, MIS-SENSE MUTATION VAL-]ILE IN EXON-17 OF AMYLOID PRECURSOR PROTEIN GENE IN JAPANESE FAMILIAL ALZHEIMERS-DISEASE, LANCET 337: 978 (1991).
  14. NICHOLS, W.C., A MUTATION IN APOLIPOPROTEIN-A-I IN THE IOWA TYPE OF FAMILIAL AMYLOIDOTIC POLYNEUROPATHY, GENOMICS 8: 318 (1990). · DOI
  15. PONTE, P, A NEW A4-AMYLOID MESSENGER-RNA CONTAINS A DOMAIN HOMOLOGOUS TO SERINE PROTEINASE-INHIBITORS, NATURE 331: 525 (1988). · DOI · Paper page
  16. ROBAKIS, N.K., MOLECULAR-CLONING AND CHARACTERIZATION OF A CDNA-ENCODING THE CEREBROVASCULAR AND THE NEURITIC PLAQUE AMYLOID PEPTIDES, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 84: 4190 (1987).
  17. SCHELLENBERG, G.D., LINKAGE ANALYSIS OF FAMILIAL ALZHEIMER-DISEASE, USING CHROMOSOME-21 MARKERS, AMERICAN JOURNAL OF HUMAN GENETICS 48: 563 (1991).
  18. TAGLIAVINI, F, AMYLOID PROTEIN OF GERSTMANN-STRAUSSLER-SCHEINKER DISEASE (INDIANA KINDRED) IS AN 11-KD FRAGMENT OF PRION PROTEIN WITH AN N-TERMINAL GLYCINE AT CODON-58, EMBO JOURNAL 10: 513 (1991). · DOI
  19. TANZI, R.E., THE GENETIC-DEFECT IN FAMILIAL ALZHEIMERS-DISEASE IS NOT TIGHTLY LINKED TO THE AMYLOID BETA-PROTEIN GENE, NATURE 329: 156 (1987). · DOI · Paper page
  20. TANZI, R.E., PROTEASE INHIBITOR DOMAIN ENCODED BY AN AMYLOID PROTEIN-PRECURSOR MESSENGER-RNA ASSOCIATED WITH ALZHEIMERS-DISEASE, NATURE 331: 528 (1988). · DOI · Paper page
  21. VANBROECKHOVEN, C, FAILURE OF FAMILIAL ALZHEIMERS-DISEASE TO SEGREGATE WITH THE A4-AMYLOID GENE IN SEVERAL EUROPEAN FAMILIES, NATURE 329: 153 (1987). · DOI · Paper page
  22. VITEK, M.P., ABSENCE OF MUTATION IN THE BETA-AMYLOID CDNAS CLONED FROM THE BRAINS OF 3 PATIENTS WITH SPORADIC ALZHEIMERS-DISEASE, MOLECULAR BRAIN RESEARCH 4: 121 (1988). · DOI
  23. YOSHIKAI, S, GENOMIC ORGANIZATION OF THE HUMAN AMYLOID BETA-PROTEIN PRECURSOR GENE, GENE 87: 257 (1990). · DOI · Paper page

Cited by

Metadata

Authors
Murrell, J., Farlow, M., Ghetti, B., & Benson, M. D.
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
1991-10-04
Volume
254
Issue
5028
Pages
97-99
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
DOI
10.1126/science.1925564
OpenAlex
W2024363942
Cited by
1,127
References
3
FWCI
67.39
Type
journal article
Language
en
Open access
closed

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