Publications:

---

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: 767A>C; Tyr256Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Frontiers In Molecular Biosciences

Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel G; Sepulveda-Falla, Diego D; Villegas Lanau, Andrés A

Publication Date: 2021

Variant appearance in text: PS1: Tyr256Ser

PubMed Link: 34150846

Variant Present in the following documents:

• Main text
• fmolb-08-649990.pdf

View BVdb publication page

---

Aβ43-producing PS1 FAD mutants cause altered substrate interactions and respond to γ-secretase modulation.

Embo Reports

Trambauer, Johannes J; Rodríguez Sarmiento, Rosa María RM; Fukumori, Akio A; Feederle, Regina R; Baumann, Karlheinz K; Steiner, Harald H

Publication Date: 2020-01-07

Variant appearance in text: PS1: Y256S

PubMed Link: 31762188

Variant Present in the following documents:

• Main text
• EMBR-21-e47996-s010.pdf
• EMBR-21-e47996-s005.pdf
• EMBR-21-e47996-s008.pdf
• EMBR-21-e47996.pdf
• EMBR-21-e47996-s001.pdf
• EMBR-21-e47996-s002.pdf

View BVdb publication page

---

Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer's Disease.

Aging And Disease

Li, Yu-Sheng YS; Yang, Zhi-Hua ZH; Zhang, Yao Y; Yang, Jing J; Shang, Dan-Dan DD; Zhang, Shu-Yu SY; Wu, Jun J; Ji, Yan Y; Zhao, Lu L; Shi, Chang-He CH; Xu, Yu-Ming YM

Publication Date: 2019-08

Variant appearance in text: PSEN1: Y256S

PubMed Link: 31440394

Variant Present in the following documents:

• Main text
• ad-10-4-908.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: Y256S

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

---

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: Y256S; rs63751320

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

The Action of Polyphenols in Diabetes Mellitus and Alzheimer's Disease: A Common Agent for Overlapping Pathologies.

Current Neuropharmacology

Silveira, Ana C AC; Dias, Jane Pires JP; Santos, Vanessa M VM; Oliveira, Pedro Fontes PF; Alves, Marco G MG; Rato, Luís L; Silva, Branca M BM

Publication Date: 2019

Variant appearance in text: PSEN1: Tyr256Ser

PubMed Link: 30081787

Variant Present in the following documents:

• Main text
• CN-17-590.pdf

View BVdb publication page

---

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Plos Genetics

Couthouis, Julien J; Raphael, Alya R AR; Daneshjou, Roxana R; Gitler, Aaron D AD

Publication Date: 2014-10

Variant appearance in text: PSEN1: Y256S

PubMed Link: 25299611

Variant Present in the following documents:

• Main text
• pgen.1004704.pdf

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: Tyr256Ser

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

---

Soluble γ-secretase modulators selectively inhibit the production of the 42-amino acid amyloid β peptide variant and augment the production of multiple carboxy-truncated amyloid β species.

Biochemistry

Wagner, Steven L SL; Zhang, Can C; Cheng, Soan S; Nguyen, Phuong P; Zhang, Xulun X; Rynearson, Kevin D KD; Wang, Rong R; Li, Yueming Y; Sisodia, Sangram S SS; Mobley, William C WC; Tanzi, Rudolph E RE

Publication Date: 2014-02-04

Variant appearance in text: PS1: Y256S

PubMed Link: 24401146

Variant Present in the following documents:

• Main text
• bi401537v.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: Y256S

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry

Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H

Publication Date: 2011-04-29

Variant appearance in text: PS1: Y256S

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Sepulveda-Falla, Diego D; Matschke, Jakob J; Bernreuther, Christian C; Hagel, Christian C; Puig, Berta B; Villegas, Andres A; Garcia, Gloria G; Zea, Julian J; Gomez-Mancilla, Baltazar B; Ferrer, Isidre I; Lopera, Francisco F; Glatzel, Markus M

Publication Date: 2011-07

Variant appearance in text: PS1: Y256S

PubMed Link: 21159009

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Three-amino acid spacing of presenilin endoproteolysis suggests a general stepwise cleavage of gamma-secretase-mediated intramembrane proteolysis.

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

Fukumori, Akio A; Fluhrer, Regina R; Steiner, Harald H; Haass, Christian C

Publication Date: 2010-06-09

Variant appearance in text: PS1: Y256S

PubMed Link: 20534834

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: Y256S

PubMed Link: 20379593

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.

Journal Of Neurology, Neurosurgery, And Psychiatry

Anheim, M M; Hannequin, D D; Boulay, C C; Martin, C C; Campion, D D; Tranchant, C C

Publication Date: 2007-12

Variant appearance in text: PSEN1: Tyr256Ser

PubMed Link: 18024701

Variant Present in the following documents:

• Main text

View BVdb publication page

---