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Select item 114977101.

Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features

Juliana Acosta‐Uribe, Andrés Villegas‐Lanau, Dionis Vallejo, Laura Ramírez‐Aguilar, Juan M. Solano, Bárbara Mejía‐Cupajita, David Aguillón, Sonia Moreno, Luis G. Méndez, Ana Baena, Lucía Madrigal, Yamile Bocanegra, Yakeel T. Quiroz, Gloria P. García, Daniel Vasquez, Andrés Arbeláez, Francisco Lopera, Thomas G. Beach, Kenneth S. Kosik, Charles L. White, III, Margarita Giraldo‐Chica

Alzheimers Dement. 2024 Sep; 20(9): 6384–6394. Published online 2024 Jul 27. doi: 10.1002/alz.14133

PMCID:: PMC11497710

Abstract Article PDF–4.1M

Select item 113792422.

A familial Alzheimer’s disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration

Mahraz Parvand, Joseph J. H. Liang, Tahereh Bozorgmehr, Dawson Born, Alvaro Luna Cortes, Catharine H. Rankin

PLoS One. 2024; 19(9): e0289435. Published online 2024 Sep 6. doi: 10.1371/journal.pone.0289435

PMCID:: PMC11379242

Abstract Article PDF–2.1M

Select item 112476783.

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

Abstract Article PDF–2.1M

Select item 110325664.

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

Abstract Article PDF–6.1M

Select item 109844925.

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

Abstract Article PDF–739K

Select item 108461146.

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

Summary PDF–413K

Select item 108460617.

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

Summary PDF–142K

Select item 106484848.

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

Abstract Article PDF–807K

Select item 105142379.

Genetic Associations with Age at Dementia Onset in the PSEN1 E280A Colombian Kindred

J. Nicholas Cochran, Juliana Acosta-Uribe, Bianca T. Esposito, Lucia Madrigal, David Aguillón, Margarita M. Giraldo, Jared W. Taylor, Joseph Bradley, Brian Fulton-Howard, Shea J. Andrews, Natalia Acosta-Baena, Diana Alzate, Gloria P. Garcia, Francisco Piedrahita, Hugo E. Lopez, Ashlyn G. Anderson, Ivan Rodriguez-Nunez, Kevin Roberts, Dominantly Inherited Alzheimer Network, Devin Absher, Richard M. Myers, Gary W. Beecham, Christiane Reitz, Lindsay F. Rizzardi, Maria Victoria Fernandez, Alison M. Goate, Carlos Cruchaga, Alan E. Renton, Francisco Lopera, Kenneth S. Kosik

Alzheimers Dement. Author manuscript; available in PMC 2024 Sep 1.

Published in final edited form as: Alzheimers Dement. 2023 Sep; 19(9): 3835–3847. Published online 2023 Mar 23. doi: 10.1002/alz.13021

PMCID:: PMC10514237

Abstract Article PDF–566K

Select item 1046404710.

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

Abstract Article PDF–8.3M

Select item 1041005911.

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

Abstract Article PDF–2.3M

Select item 1040985412.

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

Abstract Article PDF–9.5M

Select item 1036249913.

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

Abstract Article PDF–6.7M

Select item 1031967914.

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

Abstract Article PDF–641K

Select item 1023742215.

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

Abstract Article PDF–23M

Select item 1016928316.

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

Abstract Article PDF–885K

Select item 1016490317.

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

Abstract Article PDF–2.2M

Select item 995018318.

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

Abstract Article PDF–2.4M

Select item 993304719.

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

Abstract Article PDF–3.6M

Select item 992909920.

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

Abstract Article PDF–2.8M

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