Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G)
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Summary
It is established that transthyretin amyloid deposition can also produce central nervous system dysfunction as the major clinical symptom.
- Type
- article
- Published
- 1996-02-01
- Cited by
- 110
- References
- 22
- Access
- Open access
- OpenAlex
- https://openalex.org/W1918115329
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:45305511
Keywords
Transthyretin, Amyloidosis, Ataxia, Mutation, Amyloid (mycology)
References
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- Transthyretin mutations in health and disease
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- Fibril in senile systemic amyloidosis is derived from normal transthyretin.
- Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C).
- Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
- Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.
- Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele.
- A FAMILY WITH OCULOLEPTOMENINGEAL AMYLOIDOSIS AND DEMENTIA HAS A MUTATION IN THE TRANSTHYRETIN GENE: 8
- Dorothy Russell Memorial Lecture The molecular pathology of Alzheimer's disease: are we any closer to understanding the neurodegenerative process?
- Molecular biology of prion diseases
- Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70
- Immunoreactive A4 and gamma-trace peptide colocalization in amyloidotic arteriolar lesions in brains of patients with Alzheimer's disease.
Cited by
- Unfolding and aggregation of transthyretin by the truncation of 50 N‐terminal amino acids
- Targeting Protein Aggregation for the Treatment of Degenerative Diseases
- Cerebral Amyloid Angiopathies: A Pathologic, Biochemical, and Genetic View
- Efficient in vivo delivery of antisense oligonucleotide to choroid plexus.
- Leptomeningeal amyloid and variant transthyretins.
- The structure of amyloid fibrils by electron microscopy and X-ray diffraction.
- Amyloid diseases at old age : a pathological, epidemiological, and genetic study
- Cerebral amyloid angiopathy: amyloid beta accumulates in putative interstitial fluid drainage pathways in Alzheimer's disease.
- Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells.
- A stop-codon mutation in the BRI gene associated with familial British dementia
- Presenilin-1 is associated with Alzheimer's disease amyloid.
- Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia
- Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study.
- Retention of misfolded mutant transthyretin by the chaperone BiP/GRP78 mitigates amyloidogenesis.
- Hereditary transthyretin amyloidosis from a Scandinavian perspective
- Transthyretin amyloidosis and superficial siderosis of the CNS.
- The bloody path of amyloids and prions
- Transthyretin mutations in hyperthyroxinemia and amyloid diseases
- Cerebral amyloidosis: amyloid subunits, mutants and phenotypes
- Familial amyloidotic polyneuropathy (ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral hemorrhage
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