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Items: 1 to 20 of 91

1.

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E; Alzheimer's Disease Genetics Consortium, Lin CF, Dombroski BA, Cantwell LB, Partch A, Valladares O, Hakonarson H, St George-Hyslop P, Green RC, Goate AM, Foroud TM, Carney RM, Larson EB, Behrens TW, Kauwe JS, Haines JL, Farrer LA, Pericak-Vance MA, Mayeux R, Schellenberg GD; National Institute on Aging-Late-Onset Alzheimer’s Disease (NIA-LOAD) Family Study, Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barmada M, Barnes LL, Beach TG, Becker JT, Beecham GW, Beekly D, Bennett DA, Bigio EH, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Burke JR, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carroll SL, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Demirci FY, Dick M, Dickson DW, Duara R, Ertekin-Taner N, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Graff-Radford NR, Growdon JH, Hamilton RL, Hamilton-Nelson KL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jarvik GP, Jicha GA, Jin LW, Jun G, Jun G, Kamboh MI, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lopez OL, Lunetta KL, Lyketsos CG, Mack WJ, Marson DC, Martin ER, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam WM, Miller BL, Miller CA, Miller JW, Montine TJ, Morris JC, Murrell JR, Olichney JM, Parisi JE, Perry W, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reiman EM, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Tsuang DW, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L.

JAMA Neurol. 2015 Feb;72(2):209-16. doi: 10.1001/jamaneurol.2014.2157.

2.

Absence of A673T variant in APP gene indicates an alternative protective mechanism contributing to longevity in Chinese individuals.

Liu YW, He YH, Zhang YX, Cai WW, Yang LQ, Xu LY, Kong QP.

Neurobiol Aging. 2014 Apr;35(4):935.e11-2. doi: 10.1016/j.neurobiolaging.2013.09.023. Epub 2013 Oct 12.

PMID:
24126161
3.

Investigation of an amyloid precursor protein protective mutation (A673T) in a North American case-control sample of late-onset Alzheimer's disease.

Bamne MN, Demirci FY, Berman S, Snitz BE, Rosenthal SL, Wang X, Lopez OL, Kamboh MI.

Neurobiol Aging. 2014 Jul;35(7):1779.e15-6. doi: 10.1016/j.neurobiolaging.2014.01.020. Epub 2014 Jan 23.

4.

Molecular mechanisms of Alzheimer disease protection by the A673T allele of amyloid precursor protein.

Maloney JA, Bainbridge T, Gustafson A, Zhang S, Kyauk R, Steiner P, van der Brug M, Liu Y, Ernst JA, Watts RJ, Atwal JK.

J Biol Chem. 2014 Nov 7;289(45):30990-1000. doi: 10.1074/jbc.M114.589069. Epub 2014 Sep 24.

5.

Decreased plasma β-amyloid in the Alzheimer's disease APP A673T variant carriers.

Martiskainen H, Herukka SK, Stančáková A, Paananen J, Soininen H, Kuusisto J, Laakso M, Hiltunen M.

Ann Neurol. 2017 Jul;82(1):128-132. doi: 10.1002/ana.24969.

PMID:
28556232
6.

The APP A673T frequency differs between Nordic countries.

Mengel-From J, Jeune B, Pentti T, McGue M, Christensen K, Christiansen L.

Neurobiol Aging. 2015 Oct;36(10):2909.e1-4. doi: 10.1016/j.neurobiolaging.2015.07.011. Epub 2015 Jul 11.

7.

Absence of A673T amyloid-β precursor protein variant in Alzheimer's disease and other neurological diseases.

Ting SK, Chong MS, Kandiah N, Hameed S, Tan L, Au WL, Prakash KM, Pavanni R, Lee TS, Foo JN, Bei JX, Yu XQ, Liu JJ, Zhao Y, Lee WL, Tan EK.

Neurobiol Aging. 2013 Oct;34(10):2441.e7-8. doi: 10.1016/j.neurobiolaging.2013.04.012. Epub 2013 May 4.

PMID:
23652020
8.

Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population.

Kero M, Paetau A, Polvikoski T, Tanskanen M, Sulkava R, Jansson L, Myllykangas L, Tienari PJ.

Neurobiol Aging. 2013 May;34(5):1518.e1-3. doi: 10.1016/j.neurobiolaging.2012.09.017. Epub 2012 Oct 24.

PMID:
23102935
9.

Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease.

Basun H, Bogdanovic N, Ingelsson M, Almkvist O, Näslund J, Axelman K, Bird TD, Nochlin D, Schellenberg GD, Wahlund LO, Lannfelt L.

Arch Neurol. 2008 Apr;65(4):499-505. doi: 10.1001/archneur.65.4.499.

10.

Generation of a human induced pluripotent stem cell line from a patient with a rare A673T variant in amyloid precursor protein gene that reduces the risk for Alzheimer's disease.

Lehtonen Š, Höytyläinen I, Voutilainen J, Sonninen TM, Kuusisto J, Laakso M, Hämäläinen RH, Oksanen M, Koistinaho J.

Stem Cell Res. 2018 Jul;30:96-99. doi: 10.1016/j.scr.2018.05.014. Epub 2018 May 19.

11.

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.

Kunkle BW, Vardarajan BN, Naj AC, Whitehead PL, Rolati S, Slifer S, Carney RM, Cuccaro ML, Vance JM, Gilbert JR, Wang LS, Farrer LA, Reitz C, Haines JL, Beecham GW, Martin ER, Schellenberg GD, Mayeux RP, Pericak-Vance MA.

JAMA Neurol. 2017 Sep 1;74(9):1113-1122. doi: 10.1001/jamaneurol.2017.1518.

12.

Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP).

Nowotny P, Simcock X, Bertelsen S, Hinrichs AL, Kauwe JS, Mayo K, Smemo S, Morris JC, Goate A.

Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):469-74.

PMID:
17427190
13.

Fine-mapping of the human leukocyte antigen locus as a risk factor for Alzheimer disease: A case-control study.

Steele NZ, Carr JS, Bonham LW, Geier EG, Damotte V, Miller ZA, Desikan RS, Boehme KL, Mukherjee S, Crane PK, Kauwe JS, Kramer JH, Miller BL, Coppola G, Hollenbach JA, Huang Y, Yokoyama JS.

PLoS Med. 2017 Mar 28;14(3):e1002272. doi: 10.1371/journal.pmed.1002272. eCollection 2017 Mar.

14.

Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val-->Ile mutation in the amyloid precursor protein gene.

Mullan M, Tsuji S, Miki T, Katsuya T, Naruse S, Kaneko K, Shimizu T, Kojima T, Nakano I, Ogihara T, et al.

Neurobiol Aging. 1993 Sep-Oct;14(5):407-19.

PMID:
8247223
15.

Amyloid precursor protein (APP) processing genes and cerebrospinal fluid APP cleavage product levels in Alzheimer's disease.

Bekris LM, Galloway NM, Millard S, Lockhart D, Li G, Galasko DR, Farlow MR, Clark CM, Quinn JF, Kaye JA, Schellenberg GD, Leverenz JB, Seubert P, Tsuang DW, Peskind ER, Yu CE.

Neurobiol Aging. 2011 Mar;32(3):556.e13-23. doi: 10.1016/j.neurobiolaging.2010.10.020. Epub 2010 Dec 31.

16.

Role of common and rare APP DNA sequence variants in Alzheimer disease.

Hooli BV, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, Gusella JF, Moir R, Saunders AJ, Lange C, Tanzi RE, Bertram L.

Neurology. 2012 Apr 17;78(16):1250-7. doi: 10.1212/WNL.0b013e3182515972. Epub 2012 Apr 4.

17.

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM; NIA-LOAD/NCRAD Family Study Consortium.

PLoS One. 2012;7(2):e31039. doi: 10.1371/journal.pone.0031039. Epub 2012 Feb 1. Erratum in: PLoS One. 2012;7(5): doi/10.1371/annotation/c92e16da-7733-421d-b063-1db19488daa6. Haller, Gabe [added]..

18.

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.

Conidi ME, Bernardi L, Puccio G, Smirne N, Muraca MG, Curcio SA, Colao R, Piscopo P, Gallo M, Anfossi M, Frangipane F, Clodomiro A, Mirabelli M, Vasso F, Cupidi C, Torchia G, Di Lorenzo R, Mandich P, Confaloni A, Maletta RG, Bruni AC.

Neurology. 2015 Jun 2;84(22):2266-73. doi: 10.1212/WNL.0000000000001648. Epub 2015 May 6.

19.

Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.

Tcw J, Goate AM.

Cold Spring Harb Perspect Med. 2017 Jun 1;7(6). pii: a024539. doi: 10.1101/cshperspect.a024539. Review.

20.

The A673T mutation in the amyloid precursor protein reduces the production of β-amyloid protein from its β-carboxyl terminal fragment in cells.

Kokawa A, Ishihara S, Fujiwara H, Nobuhara M, Iwata M, Ihara Y, Funamoto S.

Acta Neuropathol Commun. 2015 Nov 4;3:66. doi: 10.1186/s40478-015-0247-6.

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