Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.
Alzheimer’s disease
admixture
amyloid precursor protein
dementia
haplotypes
neurodegeneration
neurodegenerative diseases
neuropathology
point mutation
population genomics
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
14 Dec 2022
14 Dec 2022
Historique:
received:
07
11
2022
revised:
30
11
2022
accepted:
11
12
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
Genetic discoveries related to Alzheimer's disease and other dementias have been performed using either large cohorts of affected subjects or multiple individuals from the same pedigree, therefore disregarding mutations in the context of healthy groups. Moreover, a large portion of studies so far have been performed on individuals of European ancestry, with a remarkable lack of epidemiological and genomic data from underrepresented populations. In the present study, 70 single-point mutations on the
Identifiants
pubmed: 36555510
pii: ijms232415871
doi: 10.3390/ijms232415871
pmc: PMC9781461
pii:
doi:
Substances chimiques
Amyloid beta-Protein Precursor
0
APP protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
Proc Natl Acad Sci U S A. 2021 Jun 1;118(22):
pubmed: 34050022
Curr Biol. 2020 Sep 7;30(17):3465-3469.e4
pubmed: 32707058
Biomedicines. 2021 Dec 23;10(1):
pubmed: 35052700
Br J Pharmacol. 2019 Sep;176(18):3464-3474
pubmed: 30471088
Nature. 2004 Aug 5;430(7000):631-9
pubmed: 15295589
Sci Transl Med. 2022 Oct 19;14(667):eabn9380
pubmed: 36260691
Genes (Basel). 2019 Mar 15;10(3):
pubmed: 30884759
BMC Biol. 2021 Mar 29;19(1):61
pubmed: 33781248
Hum Genet. 1992 Jul;89(5):580-2
pubmed: 1634237
Hum Genet. 1994 Feb;93(2):227-8
pubmed: 8112758
Alzheimers Dement. 2020 Jan;16(1):178-191
pubmed: 31914229
Eur J Hum Genet. 2016 Jan;24(1):92-8
pubmed: 25828868
Mol Genet Genomics. 2021 May;296(3):751-762
pubmed: 33818631
Mol Genet Genomic Med. 2014 Sep;2(5):430-7
pubmed: 25333068
Cold Spring Harb Perspect Med. 2017 Jun 1;7(6):
pubmed: 28003277
Cell Commun Signal. 2020 Sep 9;18(1):145
pubmed: 32907610
Nat Genet. 1992 Dec;2(4):255-6
pubmed: 1303275
Database (Oxford). 2016 Feb 20;2016:
pubmed: 26896847
PLoS Med. 2017 Mar 28;14(3):e1002270
pubmed: 28350801
Nature. 2012 Aug 2;488(7409):96-9
pubmed: 22801501
Alzheimers Dement. 2022 Apr;18(4):790-809
pubmed: 34569714
Biomedicines. 2022 Sep 15;10(9):
pubmed: 36140389
Neurology. 2015 Jun 2;84(22):2266-73
pubmed: 25948718
Neurobiol Aging. 2013 May;34(5):1518.e1-3
pubmed: 23102935
Nature. 2020 Nov;587(7835):610-612
pubmed: 32998156
JAMA Netw Open. 2021 Jul 1;4(7):e2114364
pubmed: 34228129
Nat Rev Neurosci. 2017 May;18(5):281-298
pubmed: 28360418
Genome Biol. 2019 Jun 7;20(1):119
pubmed: 31174582
Nat Genet. 1992 Aug;1(5):345-7
pubmed: 1302033
Molecules. 2020 Dec 08;25(24):
pubmed: 33302541
Int J Mol Sci. 2019 Sep 25;20(19):
pubmed: 31557888
J Neurosci Res. 2006 Jul;84(1):106-18
pubmed: 16724341
PLoS Genet. 2012;8(3):e1002603
pubmed: 22479199
Mol Psychiatry. 2021 Oct;26(10):5481-5503
pubmed: 34456336
Mol Cell. 2015 Sep 3;59(5):744-54
pubmed: 26321254
BMC Biol. 2020 May 22;18(1):51
pubmed: 32438927
Philos Trans R Soc Lond B Biol Sci. 2010 Apr 27;365(1544):1203-12
pubmed: 20308095
Subcell Biochem. 2005;38:105-27
pubmed: 15709475
Lancet Neurol. 2019 Oct;18(10):915
pubmed: 31526750
Eur J Hum Genet. 2016 May;24(5):710-6
pubmed: 26242991
Eur J Hum Genet. 2015 Oct;23(10):1328-33
pubmed: 25604855
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Commun Biol. 2019 Jan 7;2:9
pubmed: 30623105
Am J Hum Genet. 2007 Sep;81(3):559-75
pubmed: 17701901
Curr Biol. 2022 Mar 28;32(6):1412-1419.e3
pubmed: 35139357
Neurobiol Aging. 2016 Mar;39:220.e1-7
pubmed: 26803359
Neurology. 2004 Sep 14;63(5):910-2
pubmed: 15365148
Neurosci Lett. 2004 Nov 11;370(2-3):241-3
pubmed: 15488330
Neurobiol Aging. 2014 Dec;35(12):2881.e1-2881.e6
pubmed: 25104557
Nat Rev Mol Cell Biol. 2018 Jan;19(1):20-30
pubmed: 29018283
Neurobiol Dis. 2020 Jun;139:104817
pubmed: 32087291
Cell. 2019 Mar 21;177(1):26-31
pubmed: 30901543
Neurobiol Aging. 2014 Apr;35(4):935.e11-2
pubmed: 24126161
Br J Pharmacol. 2019 Sep;176(18):3447-3463
pubmed: 30710367
Int J Mol Sci. 2019 Mar 26;20(6):
pubmed: 30917570
Nat Methods. 2013 Jan;10(1):5-6
pubmed: 23269371
J Alzheimers Dis. 2009;17(2):383-9
pubmed: 19363265
Acta Biochim Pol. 2005;52(2):417-23
pubmed: 15933761
Neuropsychiatr Dis Treat. 2018 Nov 08;14:3015-3023
pubmed: 30510423
Nat Methods. 2011 Dec 04;9(2):179-81
pubmed: 22138821