PMID- 7596406
OWN - NLM
STAT- MEDLINE
DCOM- 19950803
LR  - 20220408
IS  - 0028-0836 (Print)
IS  - 0028-0836 (Linking)
VI  - 375
IP  - 6534
DP  - 1995 Jun 29
TI  - Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's 
      disease.
PG  - 754-60
AB  - Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. 
      Genetic linkage studies have mapped a locus (AD3) associated with susceptibility 
      to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have 
      defined a minimal cosegregating region containing the AD3 gene, and isolated at 
      least 19 different transcripts encoded within this region. One of these 
      transcripts (S182) corresponds to a novel gene whose product is predicted to 
      contain multiple transmembrane domains and resembles an integral membrane 
      protein. Five different missense mutations have been found that cosegregate with 
      early-onset familial Alzheimer's disease. Because these changes occurred in 
      conserved domains of this gene, and are not present in normal controls, they are 
      likely to be causative of AD3.
FAU - Sherrington, R
AU  - Sherrington R
AD  - Department of Medicine (Neurology), University of Toronto, Ontario, Canada.
FAU - Rogaev, E I
AU  - Rogaev EI
FAU - Liang, Y
AU  - Liang Y
FAU - Rogaeva, E A
AU  - Rogaeva EA
FAU - Levesque, G
AU  - Levesque G
FAU - Ikeda, M
AU  - Ikeda M
FAU - Chi, H
AU  - Chi H
FAU - Lin, C
AU  - Lin C
FAU - Li, G
AU  - Li G
FAU - Holman, K
AU  - Holman K
FAU - Tsuda, T
AU  - Tsuda T
FAU - Mar, L
AU  - Mar L
FAU - Foncin, J F
AU  - Foncin JF
FAU - Bruni, A C
AU  - Bruni AC
FAU - Montesi, M P
AU  - Montesi MP
FAU - Sorbi, S
AU  - Sorbi S
FAU - Rainero, I
AU  - Rainero I
FAU - Pinessi, L
AU  - Pinessi L
FAU - Nee, L
AU  - Nee L
FAU - Chumakov, I
AU  - Chumakov I
FAU - Pollen, D
AU  - Pollen D
FAU - Brookes, A
AU  - Brookes A
FAU - Sanseau, P
AU  - Sanseau P
FAU - Polinsky, R J
AU  - Polinsky RJ
FAU - Wasco, W
AU  - Wasco W
FAU - Da Silva, H A
AU  - Da Silva HA
FAU - Haines, J L
AU  - Haines JL
FAU - Perkicak-Vance, M A
AU  - Perkicak-Vance MA
FAU - Tanzi, R E
AU  - Tanzi RE
FAU - Roses, A D
AU  - Roses AD
FAU - Fraser, P E
AU  - Fraser PE
FAU - Rommens, J M
AU  - Rommens JM
FAU - St George-Hyslop, P H
AU  - St George-Hyslop PH
LA  - eng
SI  - GENBANK/L40391
SI  - GENBANK/L40392
SI  - GENBANK/L40393
SI  - GENBANK/L40394
SI  - GENBANK/L40395
SI  - GENBANK/L40396
SI  - GENBANK/L40397
SI  - GENBANK/L40398
SI  - GENBANK/L40399
SI  - GENBANK/L40400
SI  - GENBANK/L40401
SI  - GENBANK/L40402
SI  - GENBANK/L40403
SI  - GENBANK/L42110
SI  - GENBANK/L42177
SI  - GENBANK/L76517
SI  - GENBANK/L76518
SI  - GENBANK/L76519
SI  - GENBANK/L76520
SI  - GENBANK/L76521
SI  - GENBANK/L76522
SI  - GENBANK/L76523
SI  - GENBANK/L76524
SI  - GENBANK/L76525
SI  - GENBANK/L76526
SI  - GENBANK/L76527
SI  - GENBANK/L76528
GR  - 64309/CAPMC/CIHR/Canada
GR  - E.0010/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Nature
JT  - Nature
JID - 0410462
RN  - 0 (Membrane Proteins)
RN  - 0 (PSEN1 protein, human)
RN  - 0 (Presenilin-1)
SB  - IM
CIN - Nature. 1995 Jun 29;375(6534):734-5. PMID: 7596402
GS  - AD3
GS  - S182
MH  - Alzheimer Disease/*genetics
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 14
MH  - *Cloning, Molecular
MH  - Female
MH  - Humans
MH  - Male
MH  - Membrane Proteins/chemistry/*genetics
MH  - Mice
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Open Reading Frames
MH  - Pedigree
MH  - Presenilin-1
MH  - Protein Structure, Secondary
MH  - Transcription, Genetic
EDAT- 1995/06/29 00:00
MHDA- 1995/06/29 00:01
CRDT- 1995/06/29 00:00
PHST- 1995/06/29 00:00 [pubmed]
PHST- 1995/06/29 00:01 [medline]
PHST- 1995/06/29 00:00 [entrez]
AID - 10.1038/375754a0 [doi]
PST - ppublish
SO  - Nature. 1995 Jun 29;375(6534):754-60. doi: 10.1038/375754a0.