Publications:

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Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O

Publication Date: 2022-10-17

Variant appearance in text: PSEN1: T245P

PubMed Link: 36251323

Variant Present in the following documents:

• NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1

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Flying under the radar: CDH2 (N-cadherin), an important hub molecule in neurodevelopmental and neurodegenerative diseases.

Frontiers In Neuroscience

László, Zsófia I ZI; Lele, Zsolt Z

Publication Date: 2022

Variant appearance in text: PSEN1: T245P

PubMed Link: 36213737

Variant Present in the following documents:

• fnins-16-972059.pdf

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience

Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ

Publication Date: 2022

Variant appearance in text: PSEN1: T245P

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

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Presenilin1 familial Alzheimer disease mutants inactivate EFNB1- and BDNF-dependent neuroprotection against excitotoxicity by affecting neuroprotective complexes of N-methyl-d-aspartate receptor.

Brain Communications

Al Rahim, Md M; Yoon, Yonejung Y; Dimovasili, Christina C; Shao, Zhiping Z; Huang, Qian Q; Zhang, Emily E; Kezunovic, Nebojsa N; Chen, Lei L; Schaffner, Adam A; Huntley, George W GW; Ubarretxena-Belandia, Iban I; Georgakopoulos, Anastasios A; Robakis, Nikolaos K NK

Publication Date: 2020

Variant appearance in text: PS1: T245P

PubMed Link: 33005890

Variant Present in the following documents:

• Main text
• fcaa100.pdf

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: T245P

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.

Translational Psychiatry

Jiang, Shan S; Wen, Natalie N; Li, Zeran Z; Dube, Umber U; Del Aguila, Jorge J; Budde, John J; Martinez, Rita R; Hsu, Simon S; Fernandez, Maria V MV; Cairns, Nigel J NJ; , ; , ; Harari, Oscar O; Cruchaga, Carlos C; Karch, Celeste M CM

Publication Date: 2018-12-13

Variant appearance in text: PSEN1: T245P

PubMed Link: 30546007

Variant Present in the following documents:

• Main text
• 41398_2018_Article_319.pdf

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Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y

Publication Date: 2017-01-24

Variant appearance in text: PS1: T245P

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

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Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.

Journal Of Neuropathology And Experimental Neurology

Ringman, John M JM; Monsell, Sarah S; Ng, Denise W DW; Zhou, Yan Y; Nguyen, Andy A; Coppola, Giovanni G; Van Berlo, Victoria V; Mendez, Mario F MF; Tung, Spencer S; Weintraub, Sandra S; Mesulam, Marek-Marsel MM; Bigio, Eileen H EH; Gitelman, Darren R DR; Fisher-Hubbard, Amanda O AO; Albin, Roger L RL; Vinters, Harry V HV

Publication Date: 2016-03

Variant appearance in text: PSEN1: T245P

PubMed Link: 26888304

Variant Present in the following documents:

• Main text

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Melanopsin retinal ganglion cell loss in Alzheimer disease.

Annals Of Neurology

La Morgia, Chiara C; Ross-Cisneros, Fred N FN; Koronyo, Yosef Y; Hannibal, Jens J; Gallassi, Roberto R; Cantalupo, Gaetano G; Sambati, Luisa L; Pan, Billy X BX; Tozer, Kevin R KR; Barboni, Piero P; Provini, Federica F; Avanzini, Pietro P; Carbonelli, Michele M; Pelosi, Annalisa A; Chui, Helena H; Liguori, Rocco R; Baruzzi, Agostino A; Koronyo-Hamaoui, Maya M; Sadun, Alfredo A AA; Carelli, Valerio V

Publication Date: 2016-01

Variant appearance in text: PS1: T245P

PubMed Link: 26505992

Variant Present in the following documents:

• Main text
• ANA-79-90.pdf

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Thr245Pro

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: Thr245Pro

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.

Journal Of Neurology

Joshi, Aditi A; Ringman, John M JM; Lee, Albert S AS; Juarez, Kevin O KO; Mendez, Mario F MF

Publication Date: 2012-10

Variant appearance in text: PSEN1: T245P

PubMed Link: 22460587

Variant Present in the following documents:

• Main text

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