eprintid: 1433423
rev_number: 29
eprint_status: archive
userid: 608
dir: disk0/01/43/34/23
datestamp: 2014-06-30 18:41:17
lastmod: 2021-10-04 01:35:33
status_changed: 2014-06-30 18:41:17
type: article
metadata_visibility: show
item_issues_count: 0
creators_name: Guerreiro, R
creators_name: Brás, J
creators_name: Wojtas, A
creators_name: Rademakers, R
creators_name: Hardy, J
creators_name: Graff-Radford, N
title: A nonsense mutation in PRNP associated with clinical Alzheimer's disease.
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D07
divisions: F86
keywords: Alzheimer's disease, Exome sequencing, Nonsense mutation, PRNP, Prion
note: © 2014 The Authors. Published by Elsevier Inc.This is an open access article under the CC BY license (http:// creativecommons.org/licenses/by/3.0/).
abstract: Here, we describe a nonsense haplotype in PRNP associated with clinical Alzheimer's disease. The patient presented an early-onset of cognitive decline with memory loss as the primary cognitive problem. Whole-exome sequencing revealed a nonsense mutation in PRNP (NM_000311, c.C478T; p.Q160*; rs80356711) associated with homozygosity for the V allele at position 129 of the protein, further highlighting how very similar genotypes in PRNP result in strikingly different phenotypes.
date: 2014-05-27
official_url: http://dx.doi.org/10.1016/j.neurobiolaging.2014.05.013
vfaculties: VFBRS
oa_status: green
full_text_type: pub
language: eng
primo: open
primo_central: open_green
article_type_text: JOURNAL ARTICLE
verified: verified_manual
elements_source: PubMed
elements_id: 958725
doi: 10.1016/j.neurobiolaging.2014.05.013
pii: S0197-4580(14)00376-5
language_elements: ENG
lyricists_name: Hardy, John
lyricists_name: Louro Guerreiro, Rita
lyricists_name: Smalley, June
lyricists_name: Tomas Bras, Jose
lyricists_id: JHARD28
lyricists_id: RJLOU51
lyricists_id: JASMA87
lyricists_id: JMTOM86
full_text_status: public
publication: Neurobiol Aging
volume: 35
number: 11
pagerange: 2656.e13-2656.e16
citation:        Guerreiro, R;    Brás, J;    Wojtas, A;    Rademakers, R;    Hardy, J;    Graff-Radford, N;      (2014)    A nonsense mutation in PRNP associated with clinical Alzheimer's disease.                   Neurobiol Aging , 35  (11)   2656.e13-2656.e16.    10.1016/j.neurobiolaging.2014.05.013 <https://doi.org/10.1016/j.neurobiolaging.2014.05.013>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/1433423/1/1-s2.0-S0197458014003765-main.pdf