| Presenilin deficiency enhances tau phosphorylation and its secretion. | Presenilin deficiency enhances tau phosphorylation and its secretion.
Sun Y, Islam S, Gao Y, Nakamura T, Tomita T, Michikawa M, Zou K. | 10/16/2024 |
| Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications. | Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA, Ismail Z. | 06/27/2024 |
| Cerebral organoids derived from patients with Alzheimer's disease with PSEN1/2 mutations have defective tissue patterning and altered development. | Cerebral organoids derived from patients with Alzheimer's disease with PSEN1/2 mutations have defective tissue patterning and altered development.
Vanova T, Sedmik J, Raska J, Amruz Cerna K, Taus P, Pospisilova V, Nezvedova M, Fedorova V, Kadakova S, Klimova H, Capandova M, Orviska P, Fojtik P, Bartova S, Plevova K, Spacil Z, Hribkova H, Bohaciakova D. | 04/12/2024 |
| Quantitative comparison of presenilin protein expression reveals greater activity of PS2-gamma-secretase. | Quantitative comparison of presenilin protein expression reveals greater activity of PS2-γ-secretase.
Eccles MK, Main N, Carlessi R, Armstrong AM, Sabale M, Roberts-Mok B, Tirnitz-Parker JEE, Agostino M, Groth D, Fraser PE, Verdile G. | 01/3/2024 |
| Different transmembrane domains determine the specificity and efficiency of the cleavage activity of the gamma-secretase subunit presenilin. | Different transmembrane domains determine the specificity and efficiency of the cleavage activity of the γ-secretase subunit presenilin.
Schmidt FC, Fitz K, Feilen LP, Okochi M, Steiner H, Langosch D., Free PMC Article | 06/1/2023 |
| Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease. | Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.
Course MM, Gudsnuk K, Keene CD, Bird TD, Jayadev S, Valdmanis PN., Free PMC Article | 02/16/2023 |
| The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population. | The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.
Xiao X, Liu H, Zhou L, Liu X, Xu T, Zhu Y, Yang Q, Hao X, Liu Y, Zhang W, Zhou Y, Wang J, Li J, Jiao B, Shen L, Liao X., Free PMC Article | 01/14/2023 |
| PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort. | PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort.
Dong L, Liu C, Sha L, Mao C, Li J, Huang X, Wang J, Chu S, Peng B, Cui L, Xu Q, Gao J., Free PMC Article | 06/25/2022 |
| Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis. | Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis.
Islam S, Sun Y, Gao Y, Nakamura T, Noorani AA, Li T, Wong PC, Kimura N, Matsubara E, Kasuga K, Ikeuchi T, Tomita T, Zou K, Michikawa M., Free PMC Article | 05/7/2022 |
| A Rare Variation in the 3' Untranslated Region of the Presenilin 2 Gene Is Linked to Alzheimer's Disease. | A Rare Variation in the 3' Untranslated Region of the Presenilin 2 Gene Is Linked to Alzheimer's Disease.
Pang Y, Li T, Wang Q, Qin W, Li Y, Wei Y, Jia L. | 04/30/2022 |
| Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations. | Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M, Bezprozvanny I., Free PMC Article | 01/29/2022 |
| Plasma amyloid beta levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants. | Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants.
Damotte V, van der Lee SJ, Chouraki V, Grenier-Boley B, Simino J, Adams H, Tosto G, White C, Terzikhan N, Cruchaga C, Knol MJ, Li S, Schraen S, Grove ML, Satizabal C, Amin N, Berr C, Younkin S, Alzheimer's Disease Neuroimaging Initiative, Gottesman RF, Buée L, Beiser A, Knopman DS, Uitterlinden A, DeCarli C, Bressler J, DeStefano A, Dartigues JF, Yang Q, Boerwinkle E, Tzourio C, Fornage M, Ikram MA, Amouyel P, de Jager P, Reitz C, Mosley TH, Lambert JC, Seshadri S, van Duijn CM., Free PMC Article | 01/1/2022 |
| Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort. | Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.
Mao C, Li J, Dong L, Huang X, Lei D, Wang J, Chu S, Liu C, Peng B, Román GC, Cui L, Gao J., Free PMC Article | 12/18/2021 |
| Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy. | Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.
Li XY, Cui Y, Jing D, Xie K, Zhong X, Kong Y, Wang Y, Chu M, Wang C, Wu L., Free PMC Article | 11/6/2021 |
| Presence of a mutation in PSEN1 or PSEN2 gene is associated with an impaired brain endothelial cell phenotype in vitro. | Presence of a mutation in PSEN1 or PSEN2 gene is associated with an impaired brain endothelial cell phenotype in vitro.
Raut S, Patel R, Al-Ahmad AJ., Free PMC Article | 11/6/2021 |
| Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort. | Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort.
Eryilmaz IE, Bakar M, Egeli U, Cecener G, Yurdacan B, Colak DK, Tunca B. | 11/6/2021 |
| Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease. | Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.
Kabir MT, Uddin MS, Setu JR, Ashraf GM, Bin-Jumah MN, Abdel-Daim MM. | 10/16/2021 |
| Relevance of a Truncated PRESENILIN 2 Transcript to Alzheimer's Disease and Neurodegeneration. | Relevance of a Truncated PRESENILIN 2 Transcript to Alzheimer's Disease and Neurodegeneration.
Moussavi Nik SH, Porter T, Newman M, Bartlett B, Khan I, Sabale M, Eccles M, Woodfield A, Groth D, Dore V, Villemagne VL, Masters CL, Martins RN, Laws SM, Lardelli M, Verdile G. | 09/18/2021 |
| Amyloid-beta1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations. | Amyloid-β(1-43) cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Perrone F, Bjerke M, Hens E, Sieben A, Timmers M, De Roeck A, Vandenberghe R, Sleegers K, Martin JJ, De Deyn PP, Engelborghs S, van der Zee J, Van Broeckhoven C, Cacace R, BELNEU Consortium., Free PMC Article | 08/21/2021 |
| Identification of Structural Calcium Binding Sites in Membrane-Bound Presenilin 1 and 2. | Identification of Structural Calcium Binding Sites in Membrane-Bound Presenilin 1 and 2.
Mehra R, Kepp KP. | 06/19/2021 |
| Presenilin-2 and Calcium Handling: Molecules, Organelles, Cells and Brain Networks. | Presenilin-2 and Calcium Handling: Molecules, Organelles, Cells and Brain Networks.
Pizzo P, Basso E, Filadi R, Greotti E, Leparulo A, Pendin D, Redolfi N, Rossini M, Vajente N, Pozzan T, Fasolato C., Free PMC Article | 06/19/2021 |
| Alzheimer's Disease Associated Presenilin 1 and 2 Genes Dysregulation in Neonatal Lymphocytes Following Perinatal Asphyxia. | Alzheimer's Disease Associated Presenilin 1 and 2 Genes Dysregulation in Neonatal Lymphocytes Following Perinatal Asphyxia.
Tarkowska A, Furmaga-Jabłońska W, Bogucki J, Kocki J, Pluta R., Free PMC Article | 06/12/2021 |
| Exploring the Role of Aggregated Proteomes in the Pathogenesis of Alzheimer's Disease. | Exploring the Role of Aggregated Proteomes in the Pathogenesis of Alzheimer's Disease.
Narayanan SE, Sekhar N, Rajamma RG, Marathakam A, Al Mamun A, Uddin MS, Mathew B. | 05/29/2021 |
| Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2. | Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S, Pimenova AA, Hayes K, Villa JA, Rosene MJ, Jere M, Goate AM, Karch CM., Free PMC Article | 04/17/2021 |
| Intracellular Calcium Dysregulation by the Alzheimer's Disease-Linked Protein Presenilin 2. | Intracellular Calcium Dysregulation by the Alzheimer's Disease-Linked Protein Presenilin 2.
Galla L, Redolfi N, Pozzan T, Pizzo P, Greotti E., Free PMC Article | 10/31/2020 |