Publications:

---

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: Ser170Phe

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

View BVdb publication page

---

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: 509C>T; Ser170Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

PS1 Affects the Pathology of Alzheimer's Disease by Regulating BACE1 Distribution in the ER and BACE1 Maturation in the Golgi Apparatus.

International Journal Of Molecular Sciences

Li, Nuomin N; Qiu, Yunjie Y; Wang, Hao H; Zhao, Juan J; Qing, Hong H

Publication Date: 2022-12-18

Variant appearance in text: PS1: S170F

PubMed Link: 36555791

Variant Present in the following documents:

• Main text
• ijms-23-16151.pdf

View BVdb publication page

---

Mitochondrial dysfunction of induced pluripotent stem cells-based neurodegenerative disease modeling and therapeutic strategy.

Frontiers In Cell And Developmental Biology

Luo, Hong-Mei HM; Xu, Jia J; Huang, Dan-Xia DX; Chen, Yun-Qiang YQ; Liu, Yi-Zhou YZ; Li, Ya-Jie YJ; Chen, Hong H

Publication Date: 2022

Variant appearance in text: PSEN1: S170F

PubMed Link: 36478742

Variant Present in the following documents:

• Main text
• fcell-10-1030390.pdf

View BVdb publication page

---

Potential of Therapeutic Small Molecules in Apoptosis Regulation in the Treatment of Neurodegenerative Diseases: An Updated Review.

Molecules (Basel, Switzerland)

Dailah, Hamad Ghaleb HG

Publication Date: 2022-10-25

Variant appearance in text: PSEN1: S170F

PubMed Link: 36364033

Variant Present in the following documents:

• Main text
• molecules-27-07207.pdf

View BVdb publication page

---

Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.

Journal Of Alzheimer'S Disease : Jad

Libard, Sylwia S; Giedraitis, Vilmantas V; Kilander, Lena L; Ingelsson, Martin M; Alafuzoff, Irina I

Publication Date: 2022-10-22

Variant appearance in text: PS1: S170F

PubMed Link: 36314207

Variant Present in the following documents:

• jad-90-jad220655.pdf

View BVdb publication page

---

Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Novotny, Brenna C BC; Fernandez, Maria Victoria MV; Wang, Ciyang C; Budde, John P JP; Bergmann, Kristy K; Eteleeb, Abdallah M AM; Bradley, Joseph J; Webster, Carol C; Ebl, Curtis C; Norton, Joanne J; Gentsch, Jen J; Dube, Umber U; Wang, Fengxian F; Morris, John C JC; Bateman, Randall J RJ; Perrin, Richard J RJ; McDade, Eric E; Xiong, Chengjie C; Chhatwal, Jasmeer J; , ; , ; , ; Goate, Alison A; Farlow, Martin M; Schofield, Peter P; Chui, Helena H; Karch, Celeste M CM; Cruchaga, Carlos C; Benitez, Bruno A BA; Harari, Oscar O

Publication Date: 2022-10-17

Variant appearance in text: PSEN1: S170F

PubMed Link: 36251323

Variant Present in the following documents:

• NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx, sheet 1

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: Ser170Phe

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: S170F

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

View BVdb publication page

---

Locus coeruleus integrity is related to tau burden and memory loss in autosomal-dominant Alzheimer's disease.

Neurobiology Of Aging

Dahl, Martin J MJ; Mather, Mara M; Werkle-Bergner, Markus M; Kennedy, Briana L BL; Guzman, Samuel S; Hurth, Kyle K; Miller, Carol A CA; Qiao, Yuchuan Y; Shi, Yonggang Y; Chui, Helena C HC; Ringman, John M JM

Publication Date: 2022-04

Variant appearance in text: PSEN1: S170F

PubMed Link: 35045380

Variant Present in the following documents:

• Main text
• nihms-1779258.pdf

View BVdb publication page

---

Synaptic dysregulation and hyperexcitability induced by intracellular amyloid beta oligomers.

Aging Cell

Fernandez-Perez, Eduardo J EJ; Muñoz, Braulio B; Bascuñan, Denisse A DA; Peters, Christian C; Riffo-Lepe, Nicolas O NO; Espinoza, Maria P MP; Morgan, Peter J PJ; Filippi, Caroline C; Bourboulou, Romain R; Sengupta, Urmi U; Kayed, Rakez R; Epsztein, Jérôme J; Aguayo, Luis G LG

Publication Date: 2021-09

Variant appearance in text: PS1: S170F

PubMed Link: 34409748

Variant Present in the following documents:

• ACEL-20-e13455.pdf

View BVdb publication page

---

Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease.

Neural Regeneration Research

Hernandez-Sapiens, Mercedes A MA; Reza-Zaldívar, Edwin E EE; Márquez-Aguirre, Ana L AL; Gómez-Pinedo, Ulises U; Matias-Guiu, Jorge J; Cevallos, Ricardo R RR; Mateos-Díaz, Juan C JC; Sánchez-González, Víctor J VJ; Canales-Aguirre, Alejandro A AA

Publication Date: 2022-01

Variant appearance in text: PSEN1: S170F

PubMed Link: 34100423

Variant Present in the following documents:

• NRR-17-31.pdf

View BVdb publication page

---

Early-Onset Alzheimer's Disease: What Is Missing in Research?

Current Neurology And Neuroscience Reports

Ayodele, Temitope T; Rogaeva, Ekaterina E; Kurup, Jiji T JT; Beecham, Gary G; Reitz, Christiane C

Publication Date: 2021-01-19

Variant appearance in text: PS1: S170F

PubMed Link: 33464407

Variant Present in the following documents:

• 11910_2020_Article_1090.pdf

View BVdb publication page

---

Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?

Neurology. Genetics

Reitz, Christiane C; Rogaeva, Ekaterina E; Beecham, Gary W GW

Publication Date: 2020-10

Variant appearance in text: PSEN1: Ser170Phe

PubMed Link: 33225065

Variant Present in the following documents:

• Main text
• NG2020013862.pdf

View BVdb publication page

---

Presenilin1 familial Alzheimer disease mutants inactivate EFNB1- and BDNF-dependent neuroprotection against excitotoxicity by affecting neuroprotective complexes of N-methyl-d-aspartate receptor.

Brain Communications

Al Rahim, Md M; Yoon, Yonejung Y; Dimovasili, Christina C; Shao, Zhiping Z; Huang, Qian Q; Zhang, Emily E; Kezunovic, Nebojsa N; Chen, Lei L; Schaffner, Adam A; Huntley, George W GW; Ubarretxena-Belandia, Iban I; Georgakopoulos, Anastasios A; Robakis, Nikolaos K NK

Publication Date: 2020

Variant appearance in text: PS1: S170F

PubMed Link: 33005890

Variant Present in the following documents:

• Main text
• fcaa100.pdf

View BVdb publication page

---

Modeling of Frontotemporal Dementia Using iPSC Technology.

International Journal Of Molecular Sciences

Kim, Minchul M; Kim, Hee Jin HJ; Koh, Wonyoung W; Li, Ling L; Heo, Hyohoon H; Cho, Hanna H; Lyoo, Chul Hyoung CH; Seo, Sang Won SW; Kim, Eun-Joo EJ; Nakanishi, Mahito M; Na, Duk L DL; Song, Jihwan J

Publication Date: 2020-07-27

Variant appearance in text: PSEN1: S170F

PubMed Link: 32727073

Variant Present in the following documents:

• Main text
• ijms-21-05319.pdf

View BVdb publication page

---

Pathological manifestation of the induced pluripotent stem cell-derived cortical neurons from an early-onset Alzheimer's disease patient carrying a presenilin-1 mutation (S170F).

Cell Proliferation

Li, Ling L; Kim, Hee Jin HJ; Roh, Jee Hoon JH; Kim, Minchul M; Koh, Wonyoung W; Kim, Younghoon Y; Heo, Hyohoon H; Chung, Jaehoon J; Nakanishi, Mahito M; Yoon, Taeyoung T; Hong, Chang Pyo CP; Seo, Sang Won SW; Na, Duk L DL; Song, Jihwan J

Publication Date: 2020-04

Variant appearance in text: PSEN1: 509C>T

PubMed Link: 32216003

Variant Present in the following documents:

• Main text
• CPR-53-e12798.pdf

View BVdb publication page

---

PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Scientific Reports

Kim, Young-Eun YE; Cho, Hanna H; Kim, Hee Jin HJ; Na, Duk L DL; Seo, Sang Won SW; Ki, Chang-Seok CS

Publication Date: 2020-02-26

Variant appearance in text: PSEN1: Ser170Phe; rs63750577

PubMed Link: 32103039

Variant Present in the following documents:

• Main text
• 41598_2020_Article_59829.pdf

View BVdb publication page

---

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: S170F

PubMed Link: 31391004

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1419.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: S170F

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

---

α-synuclein in the pathophysiology of Alzheimer's disease.

Molecular Neurodegeneration

Twohig, Daniel D; Nielsen, Henrietta M HM

Publication Date: 2019-06-11

Variant appearance in text: PSEN1: S170F

PubMed Link: 31186026

Variant Present in the following documents:

• Main text
• 13024_2019_Article_320.pdf

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: S170F; rs63750577

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.

Translational Psychiatry

Jiang, Shan S; Wen, Natalie N; Li, Zeran Z; Dube, Umber U; Del Aguila, Jorge J; Budde, John J; Martinez, Rita R; Hsu, Simon S; Fernandez, Maria V MV; Cairns, Nigel J NJ; , ; , ; Harari, Oscar O; Cruchaga, Carlos C; Karch, Celeste M CM

Publication Date: 2018-12-13

Variant appearance in text: PSEN1: S170F

PubMed Link: 30546007

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathologica

Nicolas, Gaël G; Veltman, Joris A JA

Publication Date: 2019-02

Variant appearance in text: PSEN1: 509C>T; Ser170Phe

PubMed Link: 30478624

Variant Present in the following documents:

• 401_2018_1939_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

iPSC Modeling of Presenilin1 Mutation in Alzheimer's Disease with Cerebellar Ataxia.

Experimental Neurobiology

Li, Ling L; Roh, Jee Hoon JH; Chang, Eun Hyuk EH; Lee, Yoonkyung Y; Lee, Suji S; Kim, Minchul M; Koh, Wonyoung W; Chang, Jong Wook JW; Kim, Hee Jin HJ; Nakanishi, Mahito M; Barker, Roger A RA; Na, Duk L DL; Song, Jihwan J

Publication Date: 2018-10

Variant appearance in text: PSEN1: S170F

PubMed Link: 30429645

Variant Present in the following documents:

• Main text
• en-27-350.pdf

View BVdb publication page

---

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Nicolas, Gaël G; Acuña-Hidalgo, Rocío R; Keogh, Michael J MJ; Quenez, Olivier O; Steehouwer, Marloes M; Lelieveld, Stefan S; Rousseau, Stéphane S; Richard, Anne-Claire AC; Oud, Manon S MS; Marguet, Florent F; Laquerrière, Annie A; Morris, Chris M CM; Attems, Johannes J; Smith, Colin C; Ansorge, Olaf O; Al Sarraj, Safa S; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D; Wallon, David D; Gilissen, Christian C; Chinnery, Patrick F PF; Veltman, Joris A JA; Hoischen, Alexander A

Publication Date: 2018-12

Variant appearance in text: PSEN1: 509C>T; Ser170Phe

PubMed Link: 30114415

Variant Present in the following documents:

• EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx, sheet 6

View BVdb publication page

---

Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.

Genome Medicine

Li, Zeran Z; Del-Aguila, Jorge L JL; Dube, Umber U; Budde, John J; Martinez, Rita R; Black, Kathleen K; Xiao, Qingli Q; Cairns, Nigel J NJ; , ; Dougherty, Joseph D JD; Lee, Jin-Moo JM; Morris, John C JC; Bateman, Randall J RJ; Karch, Celeste M CM; Cruchaga, Carlos C; Harari, Oscar O

Publication Date: 2018-06-08

Variant appearance in text: PSEN1: S170F

PubMed Link: 29880032

Variant Present in the following documents:

• Main text
• 13073_2018_Article_551.pdf

View BVdb publication page

---

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Frontiers In Neuroscience

Ibanez, Laura L; Dube, Umber U; Davis, Albert A AA; Fernandez, Maria V MV; Budde, John J; Cooper, Breanna B; Diez-Fairen, Monica M; Ortega-Cubero, Sara S; Pastor, Pau P; Perlmutter, Joel S JS; Cruchaga, Carlos C; Benitez, Bruno A BA

Publication Date: 2018

Variant appearance in text: PSEN1: S170F

PubMed Link: 29692703

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models.

International Journal Of Molecular Sciences

Sánchez, Marina P MP; García-Cabrero, Ana M AM; Sánchez-Elexpuru, Gentzane G; Burgos, Daniel F DF; Serratosa, José M JM

Publication Date: 2018-04-05

Variant appearance in text: PSEN1: S170F

PubMed Link: 29621183

Variant Present in the following documents:

• ijms-19-01092.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PSEN1: 509C>T; Ser170Phe

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Pathogenic variants that alter protein code often disrupt splicing.

Nature Genetics

Soemedi, Rachel R; Cygan, Kamil J KJ; Rhine, Christy L CL; Wang, Jing J; Bulacan, Charlston C; Yang, John J; Bayrak-Toydemir, Pinar P; McDonald, Jamie J; Fairbrother, William G WG

Publication Date: 2017-06

Variant appearance in text: PSEN1: 509C>T

PubMed Link: 28416821

Variant Present in the following documents:

• NIHMS861030-supplement-4.pdf

View BVdb publication page

---

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research

Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2017-01

Variant appearance in text: PSEN1: 509C>T; S170F

PubMed Link: 28003435

Variant Present in the following documents:

• supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 2
• supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 2

View BVdb publication page

---

Familial Alzheimer's Disease Lymphocytes Respond Differently Than Sporadic Cells to Oxidative Stress: Upregulated p53-p21 Signaling Linked with Presenilin 1 Mutants.

Molecular Neurobiology

Wojsiat, Joanna J; Laskowska-Kaszub, Katarzyna K; Alquézar, Carolina C; Białopiotrowicz, Emilia E; Esteras, Noemi N; Zdioruk, Mykola M; Martin-Requero, Angeles A; Wojda, Urszula U

Publication Date: 2017-09

Variant appearance in text: PS1: S170F

PubMed Link: 27644130

Variant Present in the following documents:

• Main text
• 12035_2016_Article_105.pdf

View BVdb publication page

---

Changes in the plasma proteome at asymptomatic and symptomatic stages of autosomal dominant Alzheimer's disease.

Scientific Reports

Muenchhoff, Julia J; Poljak, Anne A; Thalamuthu, Anbupalam A; Gupta, Veer B VB; Chatterjee, Pratishtha P; Raftery, Mark M; Masters, Colin L CL; Morris, John C JC; Bateman, Randall J RJ; Fagan, Anne M AM; Martins, Ralph N RN; Sachdev, Perminder S PS

Publication Date: 2016-07-06

Variant appearance in text: PSEN1: S170F

PubMed Link: 27381087

Variant Present in the following documents:

• Main text
• srep29078.pdf

View BVdb publication page

---

Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

Frontiers In Aging Neuroscience

Li, Nuomin N; Liu, Kefu K; Qiu, Yunjie Y; Ren, Zehui Z; Dai, Rongji R; Deng, Yulin Y; Qing, Hong H

Publication Date: 2016

Variant appearance in text: PS1: S170F

PubMed Link: 27014058

Variant Present in the following documents:

• Main text
• fnagi-08-00051.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: PSEN1: S170F

PubMed Link: 26888304

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Plasma Phospholipid and Sphingolipid Alterations in Presenilin1 Mutation Carriers: A Pilot Study.

Journal Of Alzheimer'S Disease : Jad

Chatterjee, Pratishtha P; Lim, Wei L F WL; Shui, Guanghou G; Gupta, Veer B VB; James, Ian I; Fagan, Anne M AM; Xiong, Chengjie C; Sohrabi, Hamid R HR; Taddei, Kevin K; Brown, Belinda M BM; Benzinger, Tammie T; Masters, Colin C; Snowden, Stuart G SG; Wenk, Marcus R MR; Bateman, Randall J RJ; Morris, John C JC; Martins, Ralph N RN

Publication Date: 2016

Variant appearance in text: PS1: Ser170Phe

PubMed Link: 26836186

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Ser170Phe

PubMed Link: 25217249

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: Ser170Phe

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

---

Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis.

The Journal Of Clinical Investigation

Sepulveda-Falla, Diego D; Barrera-Ocampo, Alvaro A; Hagel, Christian C; Korwitz, Anne A; Vinueza-Veloz, Maria Fernanda MF; Zhou, Kuikui K; Schonewille, Martijn M; Zhou, Haibo H; Velazquez-Perez, Luis L; Rodriguez-Labrada, Roberto R; Villegas, Andres A; Ferrer, Isidro I; Lopera, Francisco F; Langer, Thomas T; De Zeeuw, Chris I CI; Glatzel, Markus M

Publication Date: 2014-04

Variant appearance in text: PS1: S170F

PubMed Link: 24569455

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Early-onset dementias: diagnostic and etiological considerations.

Alzheimer'S Research & Therapy

Masellis, Mario M; Sherborn, Kayla K; Neto, Pedro P; Sadovnick, Dessa A DA; Hsiung, Ging-Yuek R GY; Black, Sandra E SE; Prasad, Sadhana S; Williams, Meghan M; Gauthier, Serge S

Publication Date: 2013-07-31

Variant appearance in text: PSEN1: S170F

PubMed Link: 24565469

Variant Present in the following documents:

• alzrt197.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: S170F

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Dominantly Inherited Alzheimer Network: facilitating research and clinical trials.

Alzheimer'S Research & Therapy

Moulder, Krista L KL; Snider, B Joy BJ; Mills, Susan L SL; Buckles, Virginia D VD; Santacruz, Anna M AM; Bateman, Randall J RJ; Morris, John C JC

Publication Date: 2013

Variant appearance in text: PSEN1: S170F

PubMed Link: 24131566

Variant Present in the following documents:

• alzrt213.pdf

View BVdb publication page

---

Acetylated tau neuropathology in sporadic and hereditary tauopathies.

The American Journal Of Pathology

Irwin, David J DJ; Cohen, Todd J TJ; Grossman, Murray M; Arnold, Steven E SE; McCarty-Wood, Elisabeth E; Van Deerlin, Vivianna M VM; Lee, Virginia M-Y VM; Trojanowski, John Q JQ

Publication Date: 2013-08

Variant appearance in text: PSEN1: S170F

PubMed Link: 23885714

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Allopregnanolone increases the number of dopaminergic neurons in substantia nigra of a triple transgenic mouse model of Alzheimer's disease.

Current Alzheimer Research

Sun, Chenyou C; Ou, Xiaoming X; Farley, Jerry M JM; Stockmeier, Craig C; Bigler, Steven S; Brinton, Roberta Diaz RD; Wang, Jun Ming JM

Publication Date: 2012-05

Variant appearance in text: PS1: S170F

PubMed Link: 22272610

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Conformational altered p53 as an early marker of oxidative stress in Alzheimer's disease.

Plos One

Buizza, Laura L; Cenini, Giovanna G; Lanni, Cristina C; Ferrari-Toninelli, Giulia G; Prandelli, Chiara C; Govoni, Stefano S; Buoso, Erica E; Racchi, Marco M; Barcikowska, Maria M; Styczynska, Maria M; Szybinska, Aleksandra A; Butterfield, David Allan DA; Memo, Maurizio M; Uberti, Daniela D

Publication Date: 2012

Variant appearance in text: PS1: S170F

PubMed Link: 22242180

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease.

International Journal Of Alzheimer'S Disease

Padovani, Alessandro A; Gilberti, Nicola N; Borroni, Barbara B

Publication Date: 2011-02-21

Variant appearance in text: PSEN1: S170F

PubMed Link: 21559247

Variant Present in the following documents:

• Main text
• IJAD2011-296374.pdf

View BVdb publication page

---