Publications:

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Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).

Molecular Genetics And Genomics : Mgg

Chaudhari, Sima S; Ware, Akshay Pramod AP; Jasti, Dushyanth Babu DB; Gorthi, Sankar Prasad SP; Acharya, Lavanya Prakash LP; Bhat, Manoj M; Mallya, Sandeep S; Satyamoorthy, Kapaettu K

Publication Date: 2023-05-20

Variant appearance in text: PS1: 799C>T

PubMed Link: 37209156

Variant Present in the following documents:

• 438_2023_Article_2032.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 799C>T; Pro267Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: Pro267Ser

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.

Alzheimer'S Research & Therapy

Takada, Leonel Tadao LT; Aláez-Verson, Carmen C; Burgute, Bhagyashri D BD; Nitrini, Ricardo R; Sosa, Ana Luisa AL; Castilhos, Raphael Machado RM; Chaves, Marcia Fagundes MF; Longoria, Erika-Mariana EM; Carrillo-Sánchez, Karol K; Brucki, Sonia Maria Dozzi SMD; Flores-Lagunes, Luis Leonardo LL; Molina, Carolina C; Olivares, Marcos Jimenez MJ; Ziegemeier, Ellen E; Petranek, Jennifer J; Goate, Alison M AM; Cruchaga, Carlos C; Renton, Alan E AE; Fernández, Maria Victoria MV; Day, Gregory S GS; McDade, Eric E; Bateman, Randall J RJ; Karch, Celeste M CM; Llibre-Guerra, Jorge J JJ; ,

Publication Date: 2022-08-05

Variant appearance in text: PSEN1: Pro267Ser

PubMed Link: 35932032

Variant Present in the following documents:

• Main text
• 13195_2022_Article_1052.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: P267S

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PSEN1: P267S; rs63751229

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Protein Quality Control in Health and Disease.

Cold Spring Harbor Perspectives In Biology

Dubnikov, Tatyana T; Ben-Gedalya, Tziona T; Cohen, Ehud E

Publication Date: 2017-03-01

Variant appearance in text: PS1: P267S

PubMed Link: 27864315

Variant Present in the following documents:

• Main text

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PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.

Clinical Interventions In Aging

Bagyinszky, Eva E; Park, Sun Ah SA; Kim, Hyung Jun HJ; Choi, Seong Hye SH; An, Seong Soo A SS; Kim, Sang Yun SY

Publication Date: 2016

Variant appearance in text: PSEN1: P267S

PubMed Link: 27785004

Variant Present in the following documents:

• Main text
• cia-11-1433.pdf

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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: P267S

PubMed Link: 26888304

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.

The Embo Journal

Ben-Gedalya, Tziona T; Moll, Lorna L; Bejerano-Sagie, Michal M; Frere, Samuel S; Cabral, Wayne A WA; Friedmann-Morvinski, Dinorah D; Slutsky, Inna I; Burstyn-Cohen, Tal T; Marini, Joan C JC; Cohen, Ehud E

Publication Date: 2015-11-12

Variant appearance in text: PS1: P267S

PubMed Link: 26438723

Variant Present in the following documents:

• Main text

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A Unified Hypothesis of Early- and Late-Onset Alzheimer's Disease Pathogenesis.

Journal Of Alzheimer'S Disease : Jad

Atwood, Craig S CS; Bowen, Richard L RL

Publication Date: 2015

Variant appearance in text: PS1: P267S

PubMed Link: 26402752

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: Pro267Ser

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Upregulation of PGC-1α expression by Alzheimer's disease-associated pathway: presenilin 1/amyloid precursor protein (APP)/intracellular domain of APP.

Aging Cell

Robinson, Ari A; Grösgen, Sven S; Mett, Janine J; Zimmer, Valerie C VC; Haupenthal, Viola J VJ; Hundsdörfer, Benjamin B; Stahlmann, Christoph P CP; Slobodskoy, Yulia Y; Müller, Ulrike C UC; Hartmann, Tobias T; Stein, Reuven R; Grimm, Marcus O W MO

Publication Date: 2014-04

Variant appearance in text: PS1: P267S

PubMed Link: 24304563

Variant Present in the following documents:

• Main text
• acel0013-0263.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: PSEN1: P267S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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