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P St George-Hyslop

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Articles 78
Citations 5696
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Recent Articles
1.
Lambert J, Ibrahim-Verbaas C, Harold D, Naj A, Sims R, Bellenguez C, et al.
Nat Genet . 2013 Oct; 45(12):1452-8. PMID: 24162737
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large portion of the genetic risk for this disease remains unexplained. We conducted a large,...
2.
St George-Hyslop P, Fraser P
J Neurochem . 2011 Nov; 120 Suppl 1:84-88. PMID: 22122073
The presenilin complex is composed of four core proteins (presenilin 1 or presenilin 2, APH1, nicastrin, and PEN2). Several endogenous proteins have been reported to selectively modulate the function of...
3.
Lindquist S, Hasholt L, Bahl J, Heegaard N, Andersen B, Norremolle A, et al.
Eur J Neurol . 2008 Aug; 15(10):1135-9. PMID: 18727676
Background: Mutations in the Presenilin 2 gene (PSEN2) are rare causes of Alzheimer's disease (AD). Pathogenic mutations in the genes associated with autosomal dominant inherited AD have been shown to...
4.
Bruni A, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, et al.
Neurology . 2007 Jul; 69(2):140-7. PMID: 17620546
Background: Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN). Objective: To determine the frequency of GRN mutations in a cohort...
5.
Li Y, Chu L, Chen Y, Cheung B, Leung R, Yik P, et al.
Dement Geriatr Cogn Disord . 2006 Sep; 22(5-6):399-404. PMID: 16960449
Background: Cholesterol metabolism has been implicated in the pathophysiology of Alzheimer's disease (AD), and cholesterol-related genes are plausible candidate genes for AD. Genetic association of CYP46A1 polymorphisms with AD had...
6.
Pardossi-Piquard R, Dunys J, Yu G, St George-Hyslop P, Alves da Costa C, Checler F
J Neurochem . 2006 Apr; 97(4):1052-6. PMID: 16606360
We recently demonstrated that the presenilin-dependent gamma-secretase complex regulates the expression and activity of neprilysin, one of the main enzymes that degrade the amyloid beta-peptide (Abeta) which accumulates in Alzheimer's...
7.
Paisan-Ruiz C, Lang A, Kawarai T, Sato C, Salehi-Rad S, Fisman G, et al.
Neurology . 2005 Sep; 65(5):696-700. PMID: 16157901
Background: In addition to the four well-confirmed genes linked to early-onset Parkinson disease (PD) (SNCA, PARKIN, DJ-1, and PINK1), mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have recently...
8.
Moonis M, Swearer J, Dayaw M, St George-Hyslop P, Rogaeva E, Kawarai T, et al.
Neurology . 2005 Jul; 65(2):323-5. PMID: 16043812
CSF amyloid beta-peptide 42 (Abeta42) levels in presymptomatic subjects with pathogenic mutations in the PS1 gene are significantly lower than in an age-matched control group. Consequently, in these subjects, there...
9.
Lee J, Mayeux R, Mayo D, Mo J, Santana V, Williamson J, et al.
Mol Psychiatry . 2004 Jul; 9(11):1042-51. PMID: 15241431
Familial Alzheimer's disease (AD [MIM 104300]) has been a focus of intense investigation, primarily in Caucasian families from Europe and North America families. Although the late-onset form of familial AD,...
10.
Verdile G, Groth D, Mathews P, St George-Hyslop P, Fraser P, Ramabhadran T, et al.
Mol Psychiatry . 2004 Mar; 9(6):594-602. PMID: 14993906
Presenilin 1 (PS1) plays a pivotal role in the production of the amyloid-beta protein (Abeta) that is central to the pathogenesis of Alzheimer's disease. PS1 regulates the intramembranous proteolysis of...