Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.1.1.148 (
Thy1
)
1,210
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A number of human neurodegenerative diseases involve aggregated amyloid proteins in the brain, e.g. Alzheimer's disease (beta-amyloid) and Parkinson's disease (alpha-synuclein). Other examples are rare familial dementias which involve the
BRI
gene. In a British family, mutation of the termination codon extends the reading frame of
BRI
to yield a furin-processed 34-residue peptide (Abri; British dementia peptide), 11 residues longer than the wild-type (WT). In a Danish family, a ten-base insertion also yields a 34-residue peptide (Adan; Danish dementia peptide). To explore the roles of Abri and Adan in neurodegeneration, we synthesized Abri and Adan in oxidized and reduced forms and generated transgenic mice colonies expressing the WT and mutated forms of
BRI
. We have generated transgenic mice colonies bearing the genes coding for WT-
BRI
, Adan and Abri under the control of the
Thy1
promoter. Whereas WT-
BRI
transgenic mice express full-length WT-
BRI
protein in their brains, Adan protein is fully processed to small peptides.
...
PMID:Structure and neurotoxicity of novel amyloids derived from the BRI gene. 1624 57
