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Items: 1 to 20 of 329

1.
The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations
Charles Arber, Christopher R. S. Belder, Filip Tomczuk, Rebecca Gabriele, Yazead Buhidma, Clíona Farrell, Antoinette O'Connor, Helen Rice, Tammaryn Lashley, Nick C. Fox, Natalie S. Ryan, Selina Wray
Alzheimers Dement. 2024 Jul; 20(7): 4717–4726. Published online 2024 Jun 2. doi: 10.1002/alz.13904
PMCID:
PMC11247678
AbstractArticlePDF–2.1M
2.
Presenilin‐1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage
Nelly Joseph‐Mathurin, Rebecca L. Feldman, Ruijin Lu, Zahra Shirzadi, Carmen Toomer, Junie R. Saint Clair, Yinjiao Ma, Nicole S. McKay, Jeremy F. Strain, Collin Kilgore, Karl A. Friedrichsen, Charles D. Chen, Brian A. Gordon, Gengsheng Chen, Russ C. Hornbeck, Parinaz Massoumzadeh, Austin A. McCullough, Qing Wang, Yan Li, Guoqiao Wang, Sarah J. Keefe, Stephanie A. Schultz, Carlos Cruchaga, Gregory M. Preboske, Clifford R. Jack, Jr., Jorge J. Llibre‐Guerra, Ricardo F. Allegri, Beau M. Ances, Sarah B. Berman, William S. Brooks, David M. Cash, Gregory S. Day, Nick C. Fox, Michael Fulham, Bernardino Ghetti, Keith A. Johnson, Mathias Jucker, William E. Klunk, Christian la Fougère, Johannes Levin, Yoshiki Niimi, Hwamee Oh, Richard J. Perrin, Gerald Reischl, John M. Ringman, Andrew J. Saykin, Peter R. Schofield, Yi Su, Charlene Supnet‐Bell, Jonathan Vöglein, Igor Yakushev, Adam M. Brickman, John C. Morris, Eric McDade, Chengjie Xiong, Randall J. Bateman, Jasmeer P. Chhatwal, Tammie L. S. Benzinger, for the Dominantly Inherited Alzheimer Network
Alzheimers Dement. 2024 Apr; 20(4): 2680–2697. Published online 2024 Feb 21. doi: 10.1002/alz.13729
PMCID:
PMC11032566
AbstractArticlePDF–6.1M
3.
Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings
Yukiko Hata, Mio Nakase, Shojiro Ichimata, Koji Yoshida, Naoki Nishida
Alzheimers Dement. 2024 Mar; 20(3): 2291–2296. Published online 2024 Jan 12. doi: 10.1002/alz.13675
PMCID:
PMC10984492
AbstractArticlePDF–739K
4.
Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V)
A. Robles, M.J. Sobrido, M. García-Murias, J.M. Prieto, M. Lema, D. Santos, M. Paramo
Am J Alzheimers Dis Other Demen. 2009 Feb-Mar; 24(1): 40–45. doi: 10.1177/1533317508324272
PMCID:
PMC10846114
SummaryPDF–413K
5.
Novel PSEN1 Mutation in a Bulgarian Patient With Very Early-Onset Alzheimer’s Disease, Spastic Paraparesis, and Extrapyramidal Signs
Latchezar Dintchov Traykov, Shima Mehrabian, Marleen Van den Broeck, Margarita Radoslavova Raycheva, Marc Cruts, Albena Kirilova Jordanova, Christine Van Broeckhoven
Am J Alzheimers Dis Other Demen. 2009 Oct-Nov; 24(5): 404–407. doi: 10.1177/1533317509341464
PMCID:
PMC10846061
SummaryPDF–142K
6.
Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer’s Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population
César A. Valdez-Gaxiola, Eric Jonathan Maciel-Cruz, Rubiceli Hernández-Peña, Sofía Dumois-Petersen, Frida Rosales-Leycegui, Martha Patricia Gallegos-Arreola, José Miguel Moreno-Ortiz, Luis E. Figuera
Int J Mol Sci. 2023 Nov; 24(21): 15687. Published online 2023 Oct 28. doi: 10.3390/ijms242115687
PMCID:
PMC10648484
AbstractArticlePDF–807K
7.
Neurophysiological alterations in mice and humans carrying mutations in APP and PSEN1 genes
Fran C. van Heusden, Anne M. van Nifterick, Bryan C. Souza, Arthur S. C. França, Ilse M. Nauta, Cornelis J. Stam, Philip Scheltens, August B. Smit, Alida A. Gouw, Ronald E. van Kesteren
Alzheimers Res Ther. 2023; 15: 142. Published online 2023 Aug 22. doi: 10.1186/s13195-023-01287-6
PMCID:
PMC10464047
AbstractArticlePDF–8.3M
8.
Location of pathogenic variants in PSEN1 impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal‐dominant Alzheimer's disease
Stephanie A. Schultz, Zahra Shirzadi, Aaron P. Schultz, Lei Liu, Colleen D. Fitzpatrick, Eric McDade, Nicolas R. Barthelemy, Alan Renton, Bianca Esposito, Nelly Joseph‐Mathurin, Carlos Cruchaga, Charles D. Chen, Alison Goate, Ricardo Francisco Allegri, Tammie L. S. Benzinger, Sarah Berman, Helena C. Chui, Anne M. Fagan, Martin R. Farlow, Nick C. Fox, Brian A. Gordon, Gregory S. Day, Neill R. Graff‐Radford, Jason J. Hassenstab, Bernard J. Hanseeuw, Anna Hofmann, Clifford R. Jack, Jr, Mathias Jucker, Celeste M. Karch, Robert A. Koeppe, Jae‐Hong Lee, Allan I. Levey, Johannes Levin, Ralph N. Martins, Hiroshi Mori, John C. Morris, James Noble, Richard J. Perrin, Pedro Rosa‐Neto, Stephen P. Salloway, Raquel Sanchez‐Valle, Peter R. Schofield, Chengjie Xiong, Keith A. Johnson, Randall J. Bateman, Reisa A. Sperling, Jasmeer P. Chhatwal, the Dominantly Inherited Alzheimer Network Investigators
Aging Cell. 2023 Aug; 22(8): e13871. Published online 2023 Jun 8. doi: 10.1111/acel.13871
PMCID:
PMC10410059
AbstractArticlePDF–2.3M
9.
Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology
Nicolas Gomez-Sequeda, Miguel Mendivil-Perez, Marlene Jimenez-Del-Rio, Francisco Lopera, Carlos Velez-Pardo
Sci Rep. 2023; 13: 12833. Published online 2023 Aug 8. doi: 10.1038/s41598-023-39630-4
PMCID:
PMC10409854
AbstractArticlePDF–9.5M
10.
Familial Alzheimer’s disease-associated PSEN1 mutations affect neurodevelopment through increased Notch signaling
Erin M. Hurley, Pawel Mozolewski, Radek Dobrowolski, Jenny Hsieh
Stem Cell Reports. 2023 Jul 11; 18(7): 1516–1533. Published online 2023 Jun 22. doi: 10.1016/j.stemcr.2023.05.018
PMCID:
PMC10362499
AbstractArticlePDF–6.7M
11.
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity
Sophie Hebestreit, Janine Schwahn, Vesile Sandikci, Mate E. Maros, Ivan Valkadinov, Rüstem Yilmaz, Lukas Eckrich, Seyed Babak Loghmani, Hendrik Lesch, Julian Conrad, Holger Wenz, Anne Ebert, David Brenner, Jochen H. Weishaupt
Neurogenetics. 2023; 24(3): 209–213. Published online 2023 Jun 21. doi: 10.1007/s10048-023-00723-x
PMCID:
PMC10319679
AbstractArticlePDF–641K
12.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
13.
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
14.
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
15.
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
16.
Novel PSEN1 (P284S) Mutation Causes Alzheimer's Disease with Cerebellar Amyloid β-Protein Deposition
Mingrong Xia, Chenhao Gao, Huayuan Wang, Junkui Shang, Ruijie Liu, Yang You, Weizhou Zang, Jiewen Zhang
Curr Alzheimer Res. 2022 Nov 10; 19(7): 523–529. Published online 2022 Nov 10. doi: 10.2174/1567205019666220718151357
PMCID:
PMC9933047
AbstractArticlePDF–3.6M
17.
Effects of presenilin-1 familial Alzheimer’s disease mutations on γ-secretase activation for cleavage of amyloid precursor protein
Hung N. Do, Sujan Devkota, Apurba Bhattarai, Michael S. Wolfe, Yinglong Miao
Commun Biol. 2023; 6: 174. Published online 2023 Feb 14. doi: 10.1038/s42003-023-04539-1
PMCID:
PMC9929099
AbstractArticlePDF–2.8M
18.
Presenilin 1 Modulates Acetylcholinesterase Trafficking and Maturation
María-Ángeles Cortés-Gómez, Víctor M. Barberá, Jordi Alom, Javier Sáez-Valero, María-Salud García-Ayllón
Int J Mol Sci. 2023 Jan; 24(2): 1437. Published online 2023 Jan 11. doi: 10.3390/ijms24021437
PMCID:
PMC9864477
AbstractArticlePDF–3.3M
19.
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
20.
Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer’s Disease in Korea
Kyu Hwan Shim, Sangjoon Kang, Seong Soo A. An, Min Ju Kang
Int J Mol Sci. 2022 Dec; 23(24): 16192. Published online 2022 Dec 19. doi: 10.3390/ijms232416192
PMCID:
PMC9781446
AbstractArticlePDF–572K

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