PMID- 8515875
OWN - NLM
STAT- MEDLINE
DCOM- 19930719
LR  - 20190701
IS  - 0304-3940 (Print)
IS  - 0304-3940 (Linking)
VI  - 152
IP  - 1-2
DP  - 1993 Apr 2
TI  - Processing of the beta-amyloid precursor protein carrying the familial, 
      Dutch-type, and a novel recombinant C-terminal mutation.
PG  - 185-9
AB  - Mutations within the beta-amyloid precursor protein (beta-APP) gene that 
      cosegregate with early onset familial Alzheimer's disease (FAD) and hereditary 
      cerebral hemorrhage with amyloidosis of the Dutch-type (HCHWA-D) have been 
      reported. The effects of these mutations on the products of both the 
      non-amyloidogenic and potentially amyloidogenic processing pathways of the 
      beta-APP protein were examined in stably transfected cells. Processing of these 
      mutants appeared to be the same as wild-type. These results contrasted sharply to 
      those observed with a mutation near the amino terminus of the beta-protein domain 
      of beta-APP. This mutation resulted in a two-fold decrease of a potentially 
      amyloidogenic 11 kDa peptide fragment. The data suggest that the FAD and HCHWA-D 
      mutations have no effect on the formation of potentially amyloidogenic fragments 
      in this cell system, possibly implicating an alternative mechanism for their 
      effects.
FAU - Felsenstein, K M
AU  - Felsenstein KM
AD  - CNS-Department of Biophysics and Molecular Biology, Bristol-Myers Squibb 
      Pharmaceutical Research Institute, Wallingford, CT 06492.
FAU - Lewis-Higgins, L
AU  - Lewis-Higgins L
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - Ireland
TA  - Neurosci Lett
JT  - Neuroscience letters
JID - 7600130
RN  - 0 (Amyloid beta-Protein Precursor)
RN  - 0 (Protease Inhibitors)
RN  - 0 (Recombinant Fusion Proteins)
SB  - IM
MH  - Alzheimer Disease/*genetics/metabolism
MH  - Amino Acid Sequence
MH  - Amyloid beta-Protein Precursor/*genetics/metabolism
MH  - Amyloidosis/*genetics/metabolism
MH  - Cell Line
MH  - Cerebral Hemorrhage/*genetics/metabolism
MH  - Gene Expression
MH  - Humans
MH  - Molecular Sequence Data
MH  - *Mutagenesis, Site-Directed
MH  - Protease Inhibitors/pharmacology
MH  - *Protein Processing, Post-Translational/drug effects
MH  - Recombinant Fusion Proteins/metabolism
EDAT- 1993/04/02 00:00
MHDA- 1993/04/02 00:01
CRDT- 1993/04/02 00:00
PHST- 1993/04/02 00:00 [pubmed]
PHST- 1993/04/02 00:01 [medline]
PHST- 1993/04/02 00:00 [entrez]
AID - 0304-3940(93)90514-L [pii]
AID - 10.1016/0304-3940(93)90514-l [doi]
PST - ppublish
SO  - Neurosci Lett. 1993 Apr 2;152(1-2):185-9. doi: 10.1016/0304-3940(93)90514-l.