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Items: 1 to 20 of 94

1.
Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer’s disease
Meredith M Course, Kathryn Gudsnuk, C Dirk Keene, Thomas D Bird, Suman Jayadev, Paul N Valdmanis
Brain. 2023 Feb; 146(2): 507–518. Published online 2022 Aug 11. doi: 10.1093/brain/awac294
PMCID:
PMC10169283
AbstractArticlePDF–885K
2.
Different transmembrane domains determine the specificity and efficiency of the cleavage activity of the γ-secretase subunit presenilin
Fabian C. Schmidt, Katja Fitz, Lukas P. Feilen, Masayasu Okochi, Harald Steiner, Dieter Langosch
J Biol Chem. 2023 May; 299(5): 104626. Published online 2023 Mar 20. doi: 10.1016/j.jbc.2023.104626
PMCID:
PMC10164903
AbstractArticlePDF–2.2M
3.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment
Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini
Hum Genet. 2023; 142(3): 379–397. Published online 2022 Dec 20. doi: 10.1007/s00439-022-02511-3
PMCID:
PMC9950183
AbstractArticlePDF–2.4M
4.
The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case–control study in Chinese population
Xuewen Xiao, Hui Liu, Lu Zhou, Xixi Liu, Tianyan Xu, Yuan Zhu, Qijie Yang, Xiaoli Hao, Yingzi Liu, Weiwei Zhang, Yafang Zhou, Junling Wang, Jinchen Li, Bin Jiao, Lu Shen, Xinxin Liao
CNS Neurosci Ther. 2023 Jan; 29(1): 122–128. Published online 2022 Oct 10. doi: 10.1111/cns.13987
PMCID:
PMC9804049
AbstractArticlePDF–633K
5.
PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer’s Disease: Data from PUMCH Dementia Cohort
Liling Dong, Caiyan Liu, Longze Sha, Chenhui Mao, Jie Li, Xinying Huang, Jie Wang, Shanshan Chu, Bin Peng, Liying Cui, Qi Xu, Jing Gao
J Alzheimers Dis. 2022; 87(4): 1549–1556. Prepublished online 2022 Apr 25. Published online 2022 Jun 14. doi: 10.3233/JAD-220194
PMCID:
PMC9277672
AbstractArticlePDF–813K
6.
Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis
Sadequl Islam, Yang Sun, Yuan Gao, Tomohisa Nakamura, Arshad Ali Noorani, Tong Li, Philip C. Wong, Noriyuki Kimura, Etsuro Matsubara, Kensaku Kasuga, Takeshi Ikeuchi, Taisuke Tomita, Kun Zou, Makoto Michikawa
J Neurosci. 2022 Feb 23; 42(8): 1574–1586. doi: 10.1523/JNEUROSCI.2039-21.2021
PMCID:
PMC8883866
AbstractArticlePDF–1.3M
7.
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations
Meewhi Kim, Ilya Bezprozvanny
Int J Mol Sci. 2021 Dec; 22(24): 13600. Published online 2021 Dec 18. doi: 10.3390/ijms222413600
PMCID:
PMC8709358
AbstractArticlePDF–1.5M
8.
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
Vincent Damotte, Sven J. van der Lee, Vincent Chouraki, Benjamin Grenier‐Boley, Jeannette Simino, Hieab Adams, Giuseppe Tosto, Charles White, Natalie Terzikhan, Carlos Cruchaga, Maria J. Knol, Shuo Li, Susanna Schraen, Megan L. Grove, Claudia Satizabal, Najaf Amin, Claudine Berr, Steven Younkin, Alzheimer's Disease Neuroimaging Initiative, Rebecca F. Gottesman, Luc Buée, Alexa Beiser, David S. Knopman, Andre Uitterlinden, Charles DeCarli, Jan Bressler, Anita DeStefano, Jean‐François Dartigues, Qiong Yang, Eric Boerwinkle, Christophe Tzourio, Myriam Fornage, M. Arfan Ikram, Philippe Amouyel, Phil de Jager, Christiane Reitz, Thomas H. Mosley, Jean‐Charles Lambert, Sudha Seshadri, Cornelia M. van Duijn
Alzheimers Dement. 2021 Oct; 17(10): 1663–1674. Published online 2021 May 18. doi: 10.1002/alz.12333
PMCID:
PMC8597077
AbstractArticlePDF–808K
9.
Clinical Phenotype and Mutation Spectrum of Alzheimer’s Disease with Causative Genetic Mutation in a Chinese Cohort
Chenhui Mao, Jie Li, Liling Dong, Xinying Huang, Dan Lei, Jie Wang, Shanshan Chu, Caiyan Liu, Bin Peng, Gustavo C. Román, Liying Cui, Jing Gao
Curr Alzheimer Res. 2021 Aug 6; 18(3): 265–272. Published online 2021 Aug 6. doi: 10.2174/1567205018666210608120339
PMCID:
PMC8506917
AbstractArticlePDF–3.2M
10.
Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy
Xu-Ying Li, Yue Cui, Donglai Jing, Kexin Xie, Xiaoling Zhong, Yu Kong, Yuting Wang, Min Chu, Chaodong Wang, Liyong Wu
Alzheimer Dis Assoc Disord. 2021 Jul-Sep; 35(3): 208–213. Published online 2021 May 11. doi: 10.1097/WAD.0000000000000438
PMCID:
PMC8386585
AbstractArticlePDF–301K
11.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
12.
Alzheimer’s Disease Associated Presenilin 1 and 2 Genes Dysregulation in Neonatal Lymphocytes Following Perinatal Asphyxia
Agata Tarkowska, Wanda Furmaga-Jabłońska, Jacek Bogucki, Janusz Kocki, Ryszard Pluta
Int J Mol Sci. 2021 May; 22(10): 5140. Published online 2021 May 13. doi: 10.3390/ijms22105140
PMCID:
PMC8152038
AbstractArticlePDF–1.0M
13.
Presence of a mutation in PSEN1 or PSEN2 gene is associated with an impaired brain endothelial cell phenotype in vitro
Snehal Raut, Ronak Patel, Abraham J. Al-Ahmad
Fluids Barriers CNS. 2021; 18: 3. Published online 2021 Jan 7. doi: 10.1186/s12987-020-00235-y
PMCID:
PMC7789219
AbstractArticlePDF–2.3M
14.
Presenilin-2 and Calcium Handling: Molecules, Organelles, Cells and Brain Networks
Paola Pizzo, Emy Basso, Riccardo Filadi, Elisa Greotti, Alessandro Leparulo, Diana Pendin, Nelly Redolfi, Michela Rossini, Nicola Vajente, Tullio Pozzan, Cristina Fasolato
Cells. 2020 Oct; 9(10): 2166. Published online 2020 Sep 25. doi: 10.3390/cells9102166
PMCID:
PMC7601421
AbstractArticlePDF–1.6M
15.
Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
Federica Perrone, Maria Bjerke, Elisabeth Hens, Anne Sieben, Maarten Timmers, Arne De Roeck, Rik Vandenberghe, Kristel Sleegers, Jean-Jacques Martin, Peter P. De Deyn, Sebastiaan Engelborghs, Julie van der Zee, Christine Van Broeckhoven, Rita Cacace, on behalf of the BELNEU Consortium
Alzheimers Res Ther. 2020; 12: 108. Published online 2020 Sep 11. doi: 10.1186/s13195-020-00676-5
PMCID:
PMC7488767
AbstractArticlePDF–1.2M
16.
Restricted location of PSEN2 γ-secretase determines substrate specificity and generates an intracellular Aβ pool
Ragna Sannerud, Cary Esselens, Paulina Ejsmont, Rafael Mattera, Leila Rochin, Arun Kumar Tharkeshwar, Greet De Baets, Veerle De Wever, Roger Habets, Veerle Baert, Wendy Vermeire, Christine Michiels, Arjan J. Groot, Rosanne Wouters, Katleen Dillen, Katlijn Vints, Pieter Baatsen, Sebastian Munck, Rita Derua, Etienne Waelkens, Guriqbal S. Basi, Mark Mercken, Marc Vooijs, Mathieu Bollen, Joost Schymkowitz, Frederic Rousseau, Juan S. Bonifacino, Guillaume Van Niel, Bart De Strooper, Wim Annaert
Cell. Author manuscript; available in PMC 2020 Aug 20.
Published in final edited form as: Cell. 2016 Jun 30; 166(1): 193–208. Published online 2016 Jun 9. doi: 10.1016/j.cell.2016.05.020
PMCID:
PMC7439524
AbstractArticlePDF–1.5M
17.
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2
Simon Hsu, Anna A. Pimenova, Kimberly Hayes, Juan A. Villa, Matthew J. Rosene, Madhavi Jere, Alison M. Goate, Celeste M. Karch
Neurobiol Dis. Author manuscript; available in PMC 2021 Jun 1.
Published in final edited form as: Neurobiol Dis. 2020 Jun; 139: 104817. Published online 2020 Feb 19. doi: 10.1016/j.nbd.2020.104817
PMCID:
PMC7236786
AbstractArticlePDF–1.6M
18.
Intracellular Calcium Dysregulation by the Alzheimer’s Disease-Linked Protein Presenilin 2
Luisa Galla, Nelly Redolfi, Tullio Pozzan, Paola Pizzo, Elisa Greotti
Int J Mol Sci. 2020 Feb; 21(3): 770. Published online 2020 Jan 24. doi: 10.3390/ijms21030770
PMCID:
PMC7037278
AbstractArticlePDF–1.8M
19.
PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca2+ homeostasis
Chiara Fedeli, Riccardo Filadi, Alice Rossi, Cristina Mammucari, Paola Pizzo
Autophagy. 2019; 15(12): 2044–2062. Published online 2019 Mar 27. doi: 10.1080/15548627.2019.1596489
PMCID:
PMC6844518
AbstractArticlePDF–6.6M
20.
Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer’s Disease Genes in African Americans Identifies Novel PSEN Variants
Aurelie N’ Songo, Minerva M. Carrasquillo, Xue Wang, Thuy Nguyen, Yan Asmann, Steven G. Younkin, Mariet Allen, Ranjan Duara, Maria T. Greig Custo, Neill Graff-Radford, Nilüfer Ertekin-Taner
J Alzheimers Dis. Author manuscript; available in PMC 2019 Oct 2.
Published in final edited form as: J Alzheimers Dis. 2017; 56(4): 1215–1222. doi: 10.3233/JAD-161185
PMCID:
PMC6774612
AbstractArticlePDF–329K

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