The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.
Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C).
Open accessAbstract
A gamma-trace variant protein is the major constituent of the amyloid fibrils in patients from Iceland with hereditary cerebral hemorrhage with amyloidosis. The protein consists of 110 residues and is similar to human urinary gamma-trace basic protein (or cystatin C) beginning at its 11th amino-terminal residue. It has an amino acid substitution (glutamine for leucine) at position 58 (position 68 in gamma-trace numbering), which is near the proposed active site of related proteins--namely, cysteine protease inhibitors and kininogens. It is postulated that a point mutation has occurred, leading to the production of an unusual protein that is abnormally degraded, bound, and/or precipitated. Alternatively, gamma-trace basic protein may be genetically polymorphic, and the variant described here may represent an as-yet-undiscovered isotype or an allelic form that is linked to, but not responsible for, the deposition disease. Our data on the structure of a gamma-trace variant protein suggests that its gene expresses a polyprotein precursor in which active peptides are flanked by basic amino acid residues that permit cleavage to liberate small internal peptides. It is likely that the nucleotide sequence coding for Arg-Xaa and Lys-Xaa repeated several times in the molecule may function as alternative splicing sites for mRNA processing.
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Cites
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Cited by
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Self-citationDifferences Between Vascular and Plaque Core Amyloid in Alzheimer's Disease
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Self-citationLysosomal cathepsins and their regulation in aging and neurodegeneration
Stoka, V., Turk, V., & Turk, B. (2016) · Ageing Research Reviews · doi:10.1016/j.arr.2016.04.010 · Cited by 334
Biochemistry and Clinical Role of Human Cystatin C
Mussap, M., & Plebani, M. (2004) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408360490504934 · Cited by 313
Prolines and Aamyloidogenicity in Fragments of the Alzheimer's Peptide .beta./A4
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Metadata
- Authors
- Ghiso, J., Jensson, O., & Frangione, B.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1986-05
- Volume
- 83
- Issue
- 9
- Pages
- 2974-2978
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2024135894
- Cited by
- 332
- References
- 40
- FWCI
- 18.34
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C). https://app.cochat.ai/papers/10.1073/pnas.83.9.2974
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- Ghiso, J., Jensson, O., & Frangione, B. (1986). 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. https://doi.org/10.1073/pnas.83.9.2974
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