Publications:

---

PICALM and Alzheimer's Disease: An Update and Perspectives.

Cells

Ando, Kunie K; Nagaraj, Siranjeevi S; Küçükali, Fahri F; de Fisenne, Marie-Ange MA; Kosa, Andreea-Claudia AC; Doeraene, Emilie E; Lopez Gutierrez, Lidia L; Brion, Jean-Pierre JP; Leroy, Karelle K

Publication Date: 2022-12-10

Variant appearance in text: PSEN1: E120D

PubMed Link: 36552756

Variant Present in the following documents:

• cells-11-03994.pdf

View BVdb publication page

---

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: Glu120Asp

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

---

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: E120D

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

View BVdb publication page

---

The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease.

Acta Neuropathologica Communications

Ando, Kunie K; Ndjim, Marième M; Turbant, Sabrina S; Fontaine, Gaëlle G; Pregoni, Gustavo G; Dauphinot, Luce L; Yilmaz, Zehra Z; Suain, Valérie V; Mansour, Salwa S; Authelet, Michèle M; De Dekker, Robert R; Leroy, Karelle K; Delatour, Benoît B; , ; Duyckaerts, Charles C; Potier, Marie-Claude MC; Brion, Jean-Pierre JP

Publication Date: 2020-06-03

Variant appearance in text: PSEN1: E120D

PubMed Link: 32493451

Variant Present in the following documents:

• 40478_2020_954_MOESM1_ESM.pdf

View BVdb publication page

---

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: E120D

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

---

PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Bagyinszky, Eva E; Lee, Hye-Mi HM; Van Giau, Vo V; Koh, Seong-Beom SB; Jeong, Jee Hyang JH; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018-09-02

Variant appearance in text: PSEN1: Glu120Asp

PubMed Link: 30200536

Variant Present in the following documents:

• Main text
• ijms-19-02604.pdf

View BVdb publication page

---

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: N/A

PubMed Link: 26888304

Variant Present in the following documents:

View BVdb publication page

---

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

European Journal Of Human Genetics : Ejhg

Nicolas, Gaël G; Wallon, David D; Charbonnier, Camille C; Quenez, Olivier O; Rousseau, Stéphane S; Richard, Anne-Claire AC; Rovelet-Lecrux, Anne A; Coutant, Sophie S; Le Guennec, Kilan K; Bacq, Delphine D; Garnier, Jean-Guillaume JG; Olaso, Robert R; Boland, Anne A; Meyer, Vincent V; Deleuze, Jean-François JF; Munter, Hans Markus HM; Bourque, Guillaume G; Auld, Daniel D; Montpetit, Alexandre A; Lathrop, Mark M; Guyant-Maréchal, Lucie L; Martinaud, Olivier O; Pariente, Jérémie J; Rollin-Sillaire, Adeline A; Pasquier, Florence F; Le Ber, Isabelle I; Sarazin, Marie M; Croisile, Bernard B; Boutoleau-Bretonnière, Claire C; Thomas-Antérion, Catherine C; Paquet, Claire C; Sauvée, Mathilde M; Moreaud, Olivier O; Gabelle, Audrey A; Sellal, François F; Ceccaldi, Mathieu M; Chamard, Ludivine L; Blanc, Frédéric F; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D

Publication Date: 2016-05

Variant appearance in text: PSEN1: 360A>C; Glu120Asp

PubMed Link: 26242991

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Glu120Asp

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

---

Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN1: E120D

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Using a genetically targeted sensor to investigate the role of presenilin-1 in ER Ca2+ levels and dynamics.

Molecular Biosystems

McCombs, Janet E JE; Gibson, Emily A EA; Palmer, Amy E AE

Publication Date: 2010-09

Variant appearance in text: PS1: E120D

PubMed Link: 20379593

Variant Present in the following documents:

• Main text

View BVdb publication page

---