Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.
Adult
Alternative Splicing
/ genetics
Alzheimer Disease
/ diagnosis
Amyloid Precursor Protein Secretases
/ genetics
Amyloid beta-Peptides
/ genetics
Amyloid beta-Protein Precursor
/ genetics
Humans
Male
Middle Aged
Mutation
/ genetics
Peptide Fragments
/ genetics
Presenilin-1
/ genetics
Presenilin-2
/ genetics
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
16
10
2018
revised:
25
01
2019
accepted:
12
02
2019
entrez:
26
4
2019
pubmed:
26
4
2019
medline:
26
4
2019
Statut:
epublish
Résumé
Autosomal-dominant familial Alzheimer disease (AD) is caused by by variants in presenilin 1 ( We combined genomic, neuropathological, clinical, and molecular techniques to characterize the PSEN2 K115Efs*11 variant in two families. Neuropathological and clinical evaluation confirmed the AD diagnosis in two individuals carrying the PSEN2 K115Efs*11 variant. A truncated transcript from the variant allele is detectable in patient fibroblasts while levels of wild-type These data suggest that PSEN2 K115Efs*11 is a likely pathogenic variant associated with AD. We uncovered novel
Identifiants
pubmed: 31020001
doi: 10.1002/acn3.755
pii: ACN3755
pmc: PMC6469258
doi:
Substances chimiques
Amyloid beta-Peptides
0
Amyloid beta-Protein Precursor
0
Peptide Fragments
0
Presenilin-1
0
Presenilin-2
0
amyloid beta-protein (1-40)
0
Amyloid Precursor Protein Secretases
EC 3.4.-
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
762-777Subventions
Organisme : NIA NIH HHS
ID : P50 AG005136
Pays : United States
Organisme : NIA NIH HHS
ID : T32 AG052354
Pays : United States
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose.
Références
J Neurochem. 1999 Jun;72(6):2498-505
pubmed: 10349860
Hum Mol Genet. 1999 Aug;8(8):1529-40
pubmed: 10401002
Proc Natl Acad Sci U S A. 1999 Aug 3;96(16):9236-41
pubmed: 10430926
J Biol Chem. 2001 Jan 19;276(3):2108-14
pubmed: 11031265
J Biol Chem. 2003 Feb 28;278(9):6748-54
pubmed: 12493737
Cell Death Differ. 2003 Jun;10(6):698-708
pubmed: 12761578
Genome Biol. 2004;5(10):R74
pubmed: 15461793
J Neurochem. 2005 Jan;92(2):294-301
pubmed: 15663477
Neurology. 2006 Jan 24;66(2 Suppl 1):S86-92
pubmed: 16432153
J Cell Biol. 2006 May 8;173(3):333-9
pubmed: 16651378
EMBO Rep. 2007 Feb;8(2):141-6
pubmed: 17268505
Ann Neurol. 2008 Mar;63(3):377-87
pubmed: 18300294
Neurology. 1991 Apr;41(4):479-86
pubmed: 2011243
Brain. 2010 Apr;133(Pt 4):1143-54
pubmed: 20375137
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
PLoS One. 2011 Jan 21;6(1):e16266
pubmed: 21283692
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
Acta Neuropathol. 2012 Jan;123(1):1-11
pubmed: 22101365
Alzheimers Dement. 2012 Jan;8(1):1-13
pubmed: 22265587
PLoS One. 2012;7(2):e31039
pubmed: 22312439
Cold Spring Harb Perspect Med. 2012 Jan;2(1):a006304
pubmed: 22315713
Alzheimers Res Ther. 2012 Mar 30;4(2):9
pubmed: 22494386
EMBO J. 2012 May 16;31(10):2261-74
pubmed: 22505025
Hum Mutat. 2012 Sep;33(9):1340-4
pubmed: 22581678
Mol Syst Biol. 2013;9:633
pubmed: 23340839
Bioinformatics. 2014 Mar 15;30(6):884-6
pubmed: 24162465
Cell Rep. 2013 Nov 27;5(4):974-85
pubmed: 24239350
Front Cell Neurosci. 2014 Nov 13;8:373
pubmed: 25431548
Mol Cancer. 2015 Feb 03;14:28
pubmed: 25645291
Intern Med. 2015;54(2):205-8
pubmed: 25743013
J Parkinsons Dis Alzheimers Dis. 2015 Aug;2(2):null
pubmed: 26942228
J Alzheimers Dis. 2016 Apr 4;52(3):781-99
pubmed: 27060961
Cell. 2016 Jun 2;165(6):1319-1322
pubmed: 27259145
Cell. 2016 Jun 30;166(1):193-208
pubmed: 27293189
Neurobiol Dis. 2017 Aug;104:97-103
pubmed: 28461250
Cell. 2017 Jul 27;170(3):443-456.e14
pubmed: 28753424
ACS Chem Neurosci. 2017 Dec 20;8(12):2655-2666
pubmed: 28898051
Proc Natl Acad Sci U S A. 2017 Nov 28;114(48):12731-12736
pubmed: 29078389
Acta Neuropathol. 2018 Jun;135(6):827-837
pubmed: 29589097
Neurobiol Aging. 2018 Sep;69:292.e7-292.e14
pubmed: 29859640
J Immunol Methods. 1982 Mar 12;49(2):R11-23
pubmed: 7040548
Neurology. 1996 Feb;46(2):406-12
pubmed: 8614503
Neuroreport. 1995 Dec 29;7(1):297-301
pubmed: 8742474
Science. 1998 Jan 9;279(5348):242-7
pubmed: 9422699
J Biol Chem. 1998 Nov 27;273(48):32322-31
pubmed: 9822712