| Dysregulated expression levels of APH1B in peripheral blood are associated with brain atrophy and amyloid-beta deposition in Alzheimer's disease. | Dysregulated expression levels of APH1B in peripheral blood are associated with brain atrophy and amyloid-β deposition in Alzheimer's disease.
Park YH, Pyun JM, Hodges A, Jang JW, Bice PJ, Kim S, Saykin AJ, Nho K, AddNeuroMed consortium and the Alzheimer’s Disease Neuroimaging Initiative., Free PMC Article | 11/27/2021 |
| Negative evidence for a role of APH1B T27I variant in Alzheimer's disease. | Negative evidence for a role of APH1B T27I variant in Alzheimer's disease.
Zhang X, Zhang C, Prokopenko D, Liang Y, Han W, Tanzi RE, Sisodia SS. | 07/10/2021 |
| Data show that presenilin 1 (PS1)/anterior-pharynx-defective protein 1 (Aph1b), presenilin 2 (PS2)/Aph1aL, PS2/Aph1aS and PS2/anterior pharynx defective 1 homolog B (Aph1b) gamma-secretase produced amyloid beta peptide (Abeta) with a higher Abeta42+Abeta43-to-Abeta40 (Abeta42(43)/Abeta40) ratio than the other gamma-secretases. | Specific combinations of presenilins and Aph1s affect the substrate specificity and activity of γ-secretase.
Yonemura Y, Futai E, Yagishita S, Kaether C, Ishiura S. | 06/24/2017 |
| gamma-Secretase inhibition during repeated peripheral inflammation blocks central amyloid-beta accumulation and prevents cognitive dysfunction. | Imatinib methanesulfonate reduces hippocampal amyloid-β and restores cognitive function following repeated endotoxin exposure.
Weintraub MK, Bisson CM, Nouri JN, Vinson BT, Eimerbrink MJ, Kranjac D, Boehm GW, Chumley MJ. | 05/10/2014 |
| The single-nucleotide polymorphism (Phe217Leu; rs1047552) showed a tendency for association with HIV-1 infection in a Xhosa indigenous South African Bantu study (P = 0.087), and associated significantly in a Caucasian Dutch study (P = 0.049). | Correlation between HIV-1 seropositivity and prevalence of a gamma-secretase polymorphism in two distinct ethnic populations.
van Loo KM, van Schijndel JE, van Zweeden M, van Manen D, Trip MD, Petersen DC, Schuitemaker H, Hayes VM, Martens GJ, van Loo KM, van Schijndel JE, van Zweeden M, van Manen D, Trip MD, Petersen DC, Schuitemaker H, Hayes VM, Martens GJ. | 01/21/2010 |
| A non-synonymous SNP in the gamma-secretase component APH1B (Phe217Leu; rs1047552)is significantly associated with premature coronary atherosclerosis in Dutch males. | Male-specific association between a gamma-secretase polymorphism and premature coronary atherosclerosis.
van Loo KM, Dejaegere T, van Zweeden M, van Schijndel JE, Wijmenga C, Trip MD, Martens GJ, van Loo KM, Dejaegere T, van Zweeden M, van Schijndel JE, Wijmenga C, Trip MD, Martens GJ., Free PMC Articles: PMC2573958, PMC2573958 | 01/21/2010 |
| These data suggest that a cooperative mechanism involving APOE and APH-1b plays a role in the susceptibility to develop AD. | Interaction between the APOE epsilon4 allele and the APH-1b c + 651T > G SNP in Alzheimer's disease.
Poli M, Gatta LB, Lovati C, Mariani C, Galimberti D, Scarpini E, Biunno I, Musicco M, Dominici R, Albertini A, Finazzi D, Poli M, Gatta LB, Lovati C, Mariani C, Galimberti D, Scarpini E, Biunno I, Musicco M, Dominici R, Albertini A, Finazzi D. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesCorrelation between HIV-1 seropositivity and prevalence of a gamma-secretase polymorphism in two distinct ethnic populations.
van Loo KM, van Schijndel JE, van Zweeden M, van Manen D, Trip MD, Petersen DC, Schuitemaker H, Hayes VM, Martens GJ, van Loo KM, van Schijndel JE, van Zweeden M, van Manen D, Trip MD, Petersen DC, Schuitemaker H, Hayes VM, Martens GJ. Male-specific association between a gamma-secretase polymorphism and premature coronary atherosclerosis.
van Loo KM, Dejaegere T, van Zweeden M, van Schijndel JE, Wijmenga C, Trip MD, Martens GJ, van Loo KM, Dejaegere T, van Zweeden M, van Schijndel JE, Wijmenga C, Trip MD, Martens GJ. | 11/19/2008 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Interaction between the APOE epsilon4 allele and the APH-1b c + 651T > G SNP in Alzheimer's disease.
Poli M, Gatta LB, Lovati C, Mariani C, Galimberti D, Scarpini E, Biunno I, Musicco M, Dominici R, Albertini A, Finazzi D, Poli M, Gatta LB, Lovati C, Mariani C, Galimberti D, Scarpini E, Biunno I, Musicco M, Dominici R, Albertini A, Finazzi D. | 03/13/2008 |
| knock down of APH-1a, but not APH-1b, resulted in impaired maturation of nicastrin and reduced expression of presenilin 1, presenilin 2, and PEN-2 proteins | Expression profiles of two human APH-1 genes and their roles in formation of presenilin complexes.
Saito S, Araki W. | 01/21/2010 |
| APH-1b variant protein is destabilized, and the fourth transmembrane domain plays an important role in the protein stability and function of APH-1. | Identification and characterization of a novel human APH-1b splice variant lacking exon 4.
Saito S, Takahashi-Sasaki N, Araki W. | 01/21/2010 |
| These results collectively indicate that the three forms of APH-1 can replace each other in presenilin (PS) complexes and that the transmembrane GxxxG region is essential for the stability of the APH-1 protein as well as the assembly of PS complexes. | Characterization of APH-1 mutants with a disrupted transmembrane GxxxG motif.
Araki W, Saito S, Takahashi-Sasaki N, Shiraishi H, Komano H, Murayama KS. | 01/21/2010 |
| Expression of APH-1b increases amyloid beta peptide levels and gamma-secretase activity. | APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity.
Marlow L, Canet RM, Haugabook SJ, Hardy JA, Lahiri DK, Sambamurti K. | 01/21/2010 |
| both APH-1a splice forms and APH-1b are expressed in peripheral and neuronal cells. APH-1aS, APH-1aL, and APH-1b form separate, proteolytically active gamma-secretase complexes containing either one of the two presenilins. | Identification of distinct gamma-secretase complexes with different APH-1 variants.
Shirotani K, Edbauer D, Prokop S, Haass C, Steiner H. | 01/21/2010 |
| dimeric (NCSTN/APH-1) and trimeric (NCSTN/APH-1/PS1) intermediates of gamma-secretase complex assembly are retained within the ER and incorporation of the fourth binding partner (PEN-2) also occurs on immature NCSTN (APH-1) | Gamma-secretase complex assembly within the early secretory pathway.
Capell A, Beher D, Prokop S, Steiner H, Kaether C, Shearman MS, Haass C. | 01/21/2010 |