Hyperaccumulation of FAD-linked presenilin 1 variants in vivo (Q48675035)

14 February 2018

title

Hyperaccumulation of FAD-linked presenilin 1 variants in vivo (English)

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author

Michael K Lee

1

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author name string

Borchelt DR

2

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Kim G

3

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Thinakaran G

4

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Slunt HH

5

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Ratovitski T

6

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Martin LJ

7

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Kittur A

8

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Gandy S

9

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Levey AI

10

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Jenkins N

11

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Copeland N

12

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Price DL

13

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Sisodia SS

14

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language of work or name

English

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publication date

1 July 1997

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14 February 2018

published in

Nature Medicine

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volume

3

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issue

7

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page(s)

756-760

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14 February 2018

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

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The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology

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Sequence of deposition of heterogeneous amyloid beta-peptides and APO E in Down syndrome: implications for initial events in amyloid plaque formation.

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A familial Alzheimer's disease locus on chromosome 1.

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Candidate gene for the chromosome 1 familial Alzheimer's disease locus

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Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

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Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues

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Membrane topology of the C. elegans SEL-12 presenilin

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Protein topology of presenilin 1

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Light and electron microscopic localization of presenilin-1 in primate brain.

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Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo

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Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

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Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

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Identifiers

DOI

10.1038/NM0797-756

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14 February 2018

Dimensions Publication ID

1041514436

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14 February 2018