Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population. (Q34145734)

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12 November 2019

title

Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population (English)

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12 November 2019

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3

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12 November 2019

William S Brooks

8

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12 November 2019

Judith Miklossy

10

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Peter Henry St George-Hyslop

12 November 2019

12

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12 November 2019

author name string

Taddei K

1

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12 November 2019

Fisher C

2

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12 November 2019

Martins G

4

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12 November 2019

Paton A

5

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12 November 2019

Clarnette RM

6

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12 November 2019

Chung C

7

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12 November 2019

Hallmayer J

9

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12 November 2019

Relkin N

11

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12 November 2019

Gandy SE

13

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12 November 2019

Martins RN

14

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12 November 2019

language of work or name

English

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publication date

1 January 2002

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12 November 2019

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12 November 2019

volume

7

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12 November 2019

issue

7

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12 November 2019

page(s)

776-781

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https://scigraph.springernature.com/pub.10.1038/sj.mp.4001072

12 November 2019

exact match

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cites work

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Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

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Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.

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Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

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The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

21 January 2018

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Presenilins and Alzheimer disease

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Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients.

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Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).

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Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?

21 January 2018

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Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism.

21 January 2018

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The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

21 January 2018

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CAMDEX. A standardised instrument for the diagnosis of mental disorder in the elderly with special reference to the early detection of dementia.

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Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

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The baboon gene for apolipoprotein A-I: characterization of a cDNA clone and identification of DNA polymorphisms for genetic studies of cholesterol metabolism.

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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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Enhancement of amyloid beta 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease.

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A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease

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Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

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Protein topology of presenilin 1

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inferred from DOI database lookup

7 January 2021

based on heuristic

The -491AA polymorphism in the APOE gene is associated with increased plasma apoE levels in Alzheimer's disease

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.MP.4001072

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12192622%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference