Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Leu174Arg

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

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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: Leu174Arg

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Bmc Neurology

Van Giau, Vo V; Pyun, Jung-Min JM; Suh, Jeewon J; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-08-07

Variant appearance in text: PSEN1: L174R

PubMed Link: 31391004

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1419.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: L174R

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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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: Leu174Arg

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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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: L174R

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Involvement of presenilin holoprotein upregulation in calcium dyshomeostasis of Alzheimer's disease.

Journal Of Cellular And Molecular Medicine

Honarnejad, Kamran K; Jung, Christian K E CK; Lammich, Sven S; Arzberger, Thomas T; Kretzschmar, Hans H; Herms, Jochen J

Publication Date: 2013-02

Variant appearance in text: PS1: Leu174Arg

PubMed Link: 23379308

Variant Present in the following documents:

• Main text
• jcmm0017-0293.pdf

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Intracellular APP Domain Regulates Serine-Palmitoyl-CoA Transferase Expression and Is Affected in Alzheimer's Disease.

International Journal Of Alzheimer'S Disease

Grimm, Marcus O W MO; Grösgen, Sven S; Rothhaar, Tatjana L TL; Burg, Verena K VK; Hundsdörfer, Benjamin B; Haupenthal, Viola J VJ; Friess, Petra P; Müller, Ulrike U; Fassbender, Klaus K; Riemenschneider, Matthias M; Grimm, Heike S HS; Hartmann, Tobias T

Publication Date: 2011

Variant appearance in text: PS1: L174R

PubMed Link: 21660213

Variant Present in the following documents:

• Main text
• IJAD2011-695413.pdf

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Loss of gamma-secretase function impairs endocytosis of lipoprotein particles and membrane cholesterol homeostasis.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Tamboli, Irfan Y IY; Prager, Kai K; Thal, Dietmar R DR; Thelen, Karin M KM; Dewachter, Ilse I; Pietrzik, Claus U CU; St George-Hyslop, Peter P; Sisodia, Sangram S SS; De Strooper, Bart B; Heneka, Michael T MT; Filippov, Mikhail A MA; Müller, Ulrike U; van Leuven, Fred F; Lütjohann, Dieter D; Walter, Jochen J

Publication Date: 2008-11-12

Variant appearance in text: PS1: L174R

PubMed Link: 19005074

Variant Present in the following documents:

• Main text

View BVdb publication page

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