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Select item 92776721.

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

Abstract Article PDF–813K

Select item 70372782.

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

Abstract Article PDF–1.8M

Select item 68445183.

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

Abstract Article PDF–6.6M

Select item 65540154.

Case Report of a 63-Year-Old Patient With Alzheimer Disease and a Novel Presenilin 2 Mutation

Jennie L. Wells, Stephen H. Pasternak

Alzheimer Dis Assoc Disord. 2019 Apr-Jun; 33(2): 166–169. Published online 2018 Aug 17. doi: 10.1097/WAD.0000000000000269

PMCID:: PMC6554015

Article PDF–240K

Select item 64692585.

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease

Jacquelyn E. Braggin, Stephanie A. Bucks, Meredith M. Course, Carole L. Smith, Bryce Sopher, Leah Osnis, Kiel D. Shuey, Kimiko Domoto‐Reilly, Christina Caso, Chizuru Kinoshita, Kathryn P. Scherpelz, Chloe Cross, Thomas Grabowski, Seyyed H. M. Nik, Morgan Newman, Gwenn A. Garden, James B. Leverenz, Debby Tsuang, Caitlin Latimer, Luis F. Gonzalez‐Cuyar, Christopher Dirk Keene, Richard S. Morrison, Kristoffer Rhoads, Ellen M. Wijsman, Michael O. Dorschner, Michael Lardelli, Jessica E. Young, Paul N. Valdmanis, Thomas D. Bird, Suman Jayadev

Ann Clin Transl Neurol. 2019 Apr; 6(4): 762–777. Published online 2019 Mar 10. doi: 10.1002/acn3.755

PMCID:: PMC6469258

Abstract Article PDF–1.7M

Select item 60748276.

A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer’s disease

Vo Van Giau, Jung-Min Pyun, Eva Bagyinszky, Seong Soo A An, SangYun Kim

Clin Interv Aging. 2018; 13: 1321–1329. Published online 2018 Jul 31. doi: 10.2147/CIA.S170374

PMCID:: PMC6074827

Abstract Article PDF–1.1M

Select item 45074557.

Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders

Yan Cai, Seong Soo A An, SangYun Kim

Clin Interv Aging. 2015; 10: 1163–1172. Published online 2015 Jul 14. doi: 10.2147/CIA.S85808

PMCID:: PMC4507455

Abstract Article PDF–1.9M

Select item 40368368.

Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction

Young Chul Youn, Eva Bagyinszky, HyeRyoun Kim, Byung-Ok Choi, Seong Soo An, SangYun Kim

BMC Neurol. 2014; 14: 105. Published online 2014 May 15. doi: 10.1186/1471-2377-14-105

PMCID:: PMC4036836

Abstract Article PDF–1.4M

Select item 34082639.

RNAi-mediated inhibition of presenilin 2 inhibits glioma cell growth and invasion and is involved in the regulation of Nrg1/ErbB signaling

Bei Liu, Liang Wang, Liang-Liang Shen, Ming-Zhi Shen, Xiao-Dong Guo, Tao Wang, Qin-Chuan Liang, Chao Wang, Jun Zheng, Yi Li, Lin-Tao Jia, Hua Zhang, Guo-Dong Gao

Neuro Oncol. 2012 Aug; 14(8): 994–1006. Published online 2012 Jun 29. doi: 10.1093/neuonc/nos138

PMCID:: PMC3408263

Abstract Article PDF–436K

Select item 302203710.

Evidence for Three Loci Modifying Age-at-Onset of Alzheimer’s Disease in Early-Onset PSEN2 Families

Elizabeth E. Marchani, Thomas D. Bird, Ellen J. Steinbart, Elisabeth Rosenthal, Chang-En Yu, Gerard D. Schellenberg, Ellen M. Wijsman

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2010 Jul; 153B(5): 1031–1041. doi: 10.1002/ajmg.b.31072

PMCID:: PMC3022037

Abstract Article PDF–619K

Select item 301866211.

Presenilin-2 Mutation Causes Early Amyloid Accumulation and Memory Impairment in a Transgenic Mouse Model of Alzheimer's Disease

Toshihiko Toda, Yoshihiro Noda, Genzo Ito, Masahiro Maeda, Takahiko Shimizu

J Biomed Biotechnol. 2011; 2011: 617974. Published online 2010 Dec 29. doi: 10.1155/2011/617974

PMCID:: PMC3018662

Abstract Article PDF–2.8M

Select item 301601112.

The N141I Mutation in PSEN2: Implications for the Quintessential Case of Alzheimer Disease

Dr. Chang-En Yu, Dr. Elizabeth Marchani, Dr. Georg Nikisch, Dr. Ulrich Müller, Dr. Dagmar Nolte, Dr. Andreas Hertel, Dr. Ellen M. Wijsman, Dr. Thomas D. Bird

Arch Neurol. Author manuscript; available in PMC 2011 Jan 5.

Published in final edited form as: Arch Neurol. 2010 May; 67(5): 631–633. doi: 10.1001/archneurol.2010.87

PMCID:: PMC3016011

Abstract Article PDF–55K

Select item 285058113.

Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2

Suman Jayadev, James B. Leverenz, Ellen Steinbart, Justin Stahl, William Klunk, Cheng-En Yu, Thomas D. Bird

Brain. 2010 Apr; 133(4): 1143–1154. Published online 2010 Apr 5. doi: 10.1093/brain/awq033

PMCID:: PMC2850581

Abstract Article PDF–417K

Select item 4032014.

Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3.

J Li, J Ma, H Potter

Proc Natl Acad Sci U S A. 1995 Dec 19; 92(26): 12180–12184. doi: 10.1073/pnas.92.26.12180

PMCID:: PMC40320

Summary Page Browse PDF–1.2M

Select item 2003615.

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid β protein ending at the 42nd (or 43rd) residue

Taisuke Tomita, Kei Maruyama, Takaomi C. Saido, Hideaki Kume, Kohki Shinozaki, Shinya Tokuhiro, Anja Capell, Jochen Walter, Jürgen Grünberg, Christian Haass, Takeshi Iwatsubo, Kunihiko Obata

Proc Natl Acad Sci U S A. 1997 Mar 4; 94(5): 2025–2030. doi: 10.1073/pnas.94.5.2025

PMCID:: PMC20036

Abstract Article PDF–353K

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 850691718.

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

Abstract Article PDF–3.2M

Select item 838658519.

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

Abstract Article PDF–301K

Select item 815203820.

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

Abstract Article PDF–1.0M

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