Presenilin mutations line up along transmembrane α-helices

Neuroscience Letters

Volumn 306, Issue 3, 2001, Pages 203-205

  Hardy, John ^a   Crook, Richard ^a  

^a MAYO GRADUATE SCHOOL   (United States)

Author keywords

Alzheimer's disease; Genetics; Presenilins

Indexed keywords

MEMBRANE PROTEIN; PRESENILIN 1;

ALPHA HELIX; ALZHEIMER DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; HUMAN; PATHOGENICITY; PRIORITY JOURNAL;

HUMANS; MEMBRANE PROTEINS; MUTATION; PRESENILIN-1; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY;

EID: 0035968117     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(01)01910-3     Document Type: Article

References (16)

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6. Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene
7. The presenilin 1 C92S mutation increases Aβ42 production
8. Additional evidence for an eight-transmembrane-domain topology for Caenorhabditis elegans and human presenilins
9. Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1
10. A loss of function mutant of the presenilin homologue SEL-12 undergoes aberrant endoproteolysis in Caenorhabditis elegans and increases Aβ42 generation in human cells
11. A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease
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13. Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
14. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
15. Are presenilins intramembrane-cleaving proteases? Implications for the molecular mechanism of Alzheimer's disease
16. Two transmembrane aspartates in presenilin- 1 required for presenilin endoproteolysis and gamma-secretase activity