Hyperaccumulation of FAD-linked presenilin 1 variants in vivo

Nature Medicine

Volumn 3, Issue 7, 1997, Pages 756-760

  Lee, Michael K ^a   Borchelt, David R ^a   Kim, Grace ^a   Thinakaran, Gopal ^a   Slunt, Hilda H ^a   Ratovitski, Tamara ^a   Martin, Lee J ^a   Kittur, Anik ^a   Gandy, Samuel ^b   Levey, Aĺlan I ^c   Jenkins, Nancy ^d   Copeland, Neal ^d   Price, Donald L ^a   Sisodia, Sangram S ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVINE ADENINE NUCLEOTIDE;

ALZHEIMER DISEASE; ANIMAL TISSUE; ARTICLE; MOUSE; NONHUMAN; PEDIGREE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; TRANSGENIC MOUSE;

ACTINS; ALZHEIMER DISEASE; ANIMALS; CEREBRAL CORTEX; HIPPOCAMPUS; HUMANS; IMMUNOBLOTTING; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; POINT MUTATION; PRESENILIN-1; VARIATION (GENETICS);

ANIMALIA; MUS MUSCULUS;

EID: 0030811016     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/nm0797-756     Document Type: Article

References (20)

1. Sherrington, R. et. al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375, 754-760 (1995).
2. Alzheimer's Disease Collaborative Group. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genet. 11, 219-222 (1995).
3. Rogaev, E.I. et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376, 775-778 (1995).
4. Levy-Lahad, E. et al. A familial Alzheimer's disease locus on chromosome 1. Science 269, 970-973 (1995).
5. Levy-Lahad, E. et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269, 973-977 (1995).
6. Perez-tur, J. et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 7, 297-301 (1995).
7. Campion, D. et al. Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease. Hum. Mol. Genet. 4, 2373-2377 (1995).
8. Kovacs, D.M. et al. Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nature Med. 2, 224-229 (1996).
9. Lee, M.K. et al. Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues. J. Neurosci. 16, 7513-7525 (1996).
10. Li, X. & Greenwald, I. Membrane topology of the C. elegans SEL-12 presenilin. Neuron 17, 1015-1021 (1996).
11. Doan, A. et al. Protein topology of presenilin 1. Neuron 17, 1023-1030 (1996).
12. Thinakaran, G. et al. Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vitro and in vivo. Neuron 17, 181-190 (1996).
13. Lah, J.J. et al. Light and electron microscopic localization of presenilin-1 in primate brain. J. Neurosci. 19, 1971-1980 (1997).
14. Levitan, D. et al. Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc. Natl. Acad. Sci. USA 93, 14940-14944 (1966).
15. Borchelt, D.R. et al. Familial Alzheimer's disease-linked presenilin 1 variants elevate Aβ1-42/1-40 ratio in vitro and in vivo. Neuron 17, 1005-1013.
16. Duff, K. et al. Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1. Nature 383, 710-713.
17. Citron, M. et al. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice. Nature Med. 3, 67-72.
18. Iwatsubo, J. et al. Visualization of Aβ42(43) and Aβ40 in senile plaques with end-specific Aβ monoclonals: Evidence that an initially deposited species is Aβ42(43). Neuron 13, 45-53 (1994).
19. Lemere, C.A. et al. The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology. Nature Med. 2, 1146-1150 (1996).
20. Lemere, C.A. et al. Sequence of deposition of heterogeneous amyloid β-peptides and ApoE in Down syndrome: Implications of initial events in amyloid plaque formation. Neurobiol. Disease 3, 16-32 (1996).