Publications:

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Gly378Val

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: G378V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: G378V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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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: G378V

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine

Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,

Publication Date: 2017-03

Variant appearance in text: PSEN1: 1133G>T; Gly378Val

PubMed Link: 28350801

Variant Present in the following documents:

• Main text
• pmed.1002270.pdf

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The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.

American Journal Of Neurodegenerative Disease

Ravenscroft, Thomas A TA; Pottier, Cyril C; Murray, Melissa E ME; Baker, Matt M; Christopher, Elizabeth E; Levitch, Denise D; Brown, Patricia H PH; Barker, Warren W; Duara, Ranjan R; Greig-Custo, Maria M; Betancourt, Ana A; English, Mara M; Sun, Xiaoyan X; Ertekin-Taner, Nilüfer N; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Rademakers, Rosa R

Publication Date: 2016

Variant appearance in text: PSEN1: G378V

PubMed Link: 27073747

Variant Present in the following documents:

• Main text

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Convergence of pathology in dementia with Lewy bodies and Alzheimer's disease: a role for the novel interaction of alpha-synuclein and presenilin 1 in disease.

Brain : A Journal Of Neurology

Winslow, Ashley R AR; Moussaud, Simon S; Zhu, Liya L; Post, Kathryn L KL; Post, Katherine L KL; Dickson, Dennis W DW; Berezovska, Oksana O; McLean, Pamela J PJ

Publication Date: 2014-07

Variant appearance in text: PSEN1: G378V

PubMed Link: 24860142

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: Gly378Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease.

Brain : A Journal Of Neurology

Shinohara, Mitsuru M; Fujioka, Shinsuke S; Murray, Melissa E ME; Wojtas, Aleksandra A; Baker, Matthew M; Rovelet-Lecrux, Anne A; Rademakers, Rosa R; Das, Pritam P; Parisi, Joseph E JE; Graff-Radford, Neill R NR; Petersen, Ronald C RC; Dickson, Dennis W DW; Bu, Guojun G

Publication Date: 2014-05

Variant appearance in text: PSEN1: G378V

PubMed Link: 24625695

Variant Present in the following documents:

• Main text

View BVdb publication page

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