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Items: 1 to 20 of 49

1.

Towards a complete resolution of the genetic architecture of disease.

Singleton AB, Hardy J, Traynor BJ, Houlden H.

Trends Genet. 2010 Oct;26(10):438-42. doi: 10.1016/j.tig.2010.07.004.

2.

Novel research horizons for presenilins and γ-secretases in cell biology and disease.

De Strooper B, Annaert W.

Annu Rev Cell Dev Biol. 2010;26:235-60. doi: 10.1146/annurev-cellbio-100109-104117. Review.

PMID:
20604710
3.

Effects of the English (H6R) and Tottori (D7N) familial Alzheimer disease mutations on amyloid beta-protein assembly and toxicity.

Ono K, Condron MM, Teplow DB.

J Biol Chem. 2010 Jul 23;285(30):23186-97. doi: 10.1074/jbc.M109.086496. Epub 2010 May 7.

4.

An APP inhibitory domain containing the Flemish mutation residue modulates gamma-secretase activity for Abeta production.

Tian Y, Bassit B, Chau D, Li YM.

Nat Struct Mol Biol. 2010 Feb;17(2):151-8. doi: 10.1038/nsmb.1743. Epub 2010 Jan 10.

PMID:
20062056
5.

gamma-Secretase: successive tripeptide and tetrapeptide release from the transmembrane domain of beta-carboxyl terminal fragment.

Takami M, Nagashima Y, Sano Y, Ishihara S, Morishima-Kawashima M, Funamoto S, Ihara Y.

J Neurosci. 2009 Oct 14;29(41):13042-52. doi: 10.1523/JNEUROSCI.2362-09.2009.

6.

Finding the missing heritability of complex diseases.

Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM.

Nature. 2009 Oct 8;461(7265):747-53. doi: 10.1038/nature08494. Review.

7.

Synaptic NMDA receptor activation stimulates alpha-secretase amyloid precursor protein processing and inhibits amyloid-beta production.

Hoey SE, Williams RJ, Perkinton MS.

J Neurosci. 2009 Apr 8;29(14):4442-60. doi: 10.1523/JNEUROSCI.6017-08.2009.

8.

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

Di Fede G, Catania M, Morbin M, Rossi G, Suardi S, Mazzoleni G, Merlin M, Giovagnoli AR, Prioni S, Erbetta A, Falcone C, Gobbi M, Colombo L, Bastone A, Beeg M, Manzoni C, Francescucci B, Spagnoli A, Cantù L, Del Favero E, Levy E, Salmona M, Tagliavini F.

Science. 2009 Mar 13;323(5920):1473-7. doi: 10.1126/science.1168979.

9.

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J.

Neurobiol Aging. 2010 May;31(5):725-31. doi: 10.1016/j.neurobiolaging.2008.06.012. Epub 2008 Jul 30.

10.

Molecular genetics of Alzheimer's disease: an update.

Brouwers N, Sleegers K, Van Broeckhoven C.

Ann Med. 2008;40(8):562-83. doi: 10.1080/07853890802186905. Review.

PMID:
18608129
11.

Aggregation and catabolism of disease-associated intra-Abeta mutations: reduced proteolysis of AbetaA21G by neprilysin.

Betts V, Leissring MA, Dolios G, Wang R, Selkoe DJ, Walsh DM.

Neurobiol Dis. 2008 Sep;31(3):442-50. doi: 10.1016/j.nbd.2008.06.001. Epub 2008 Jun 17.

12.

A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia.

Tomiyama T, Nagata T, Shimada H, Teraoka R, Fukushima A, Kanemitsu H, Takuma H, Kuwano R, Imagawa M, Ataka S, Wada Y, Yoshioka E, Nishizaki T, Watanabe Y, Mori H.

Ann Neurol. 2008 Mar;63(3):377-87. doi: 10.1002/ana.21321.

PMID:
18300294
13.

Abeta amyloid deposition in the language system and how the brain responds.

Nelissen N, Vandenbulcke M, Fannes K, Verbruggen A, Peeters R, Dupont P, Van Laere K, Bormans G, Vandenberghe R.

Brain. 2007 Aug;130(Pt 8):2055-69. Epub 2007 Jun 24.

PMID:
17586869
14.

Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.

Klunk WE, Price JC, Mathis CA, Tsopelas ND, Lopresti BJ, Ziolko SK, Bi W, Hoge JA, Cohen AD, Ikonomovic MD, Saxton JA, Snitz BE, Pollen DA, Moonis M, Lippa CF, Swearer JM, Johnson KA, Rentz DM, Fischman AJ, Aizenstein HJ, DeKosky ST.

J Neurosci. 2007 Jun 6;27(23):6174-84.

15.

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.

Theuns J, Marjaux E, Vandenbulcke M, Van Laere K, Kumar-Singh S, Bormans G, Brouwers N, Van den Broeck M, Vennekens K, Corsmit E, Cruts M, De Strooper B, Van Broeckhoven C, Vandenberghe R.

Hum Mutat. 2006 Sep;27(9):888-96.

PMID:
16917905
16.
17.

Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms.

Bentahir M, Nyabi O, Verhamme J, Tolia A, Horré K, Wiltfang J, Esselmann H, De Strooper B.

J Neurochem. 2006 Feb;96(3):732-42. Epub 2006 Jan 9.

18.
19.

novoSNP, a novel computational tool for sequence variation discovery.

Weckx S, Del-Favero J, Rademakers R, Claes L, Cruts M, De Jonghe P, Van Broeckhoven C, De Rijk P.

Genome Res. 2005 Mar;15(3):436-42.

20.

Biochemical and kinetic characterization of BACE1: investigation into the putative species-specificity for beta- and beta'-cleavage sites by human and murine BACE1.

Yang HC, Chai X, Mosior M, Kohn W, Boggs LN, Erickson JA, McClure DB, Yeh WK, Zhang L, Gonzalez-DeWhitt P, Mayer JP, Martin JA, Hu J, Chen SH, Bueno AB, Little SP, McCarthy JR, May PC.

J Neurochem. 2004 Dec;91(6):1249-59.

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