Publications:

---

Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Brain Communications

Ringman, John M JM; Dorrani, Naghmeh N; Fernández, Sara Gutiérrez SG; Signer, Rebecca R; Martinez-Agosto, Julian J; Lee, Hane H; Douine, Emilie D ED; Qiao, Yuchuan Y; Shi, Yonggang Y; D'Orazio, Lina L; Pawar, Sanjay S; Robbie, Leah L; Kashani, Amir H AH; Singer, Maxwell M; Byers, Joshua T JT; Magaki, Shino S; Guzman, Sam S; Sagare, Abhay A; Zlokovic, Berislav B; Cederbaum, Stephen S; Nelson, Stanley S; Sheikh-Bahaei, Nasim N; Chui, Helena C HC; Chávez-Gutiérrez, Lucía L; Vinters, Harry V HV

Publication Date: 2023

Variant appearance in text: PSEN1: N135S

PubMed Link: 36895955

Variant Present in the following documents:

• fcad030.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: 404A>G; Asn135Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: Asn135Ser

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: Asn135Ser

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: N135S

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

View BVdb publication page

---

Alzheimer's disease and epilepsy: The top 100 cited papers.

Frontiers In Aging Neuroscience

Zhang, Gui-Fen GF; Gong, Wen-Xin WX; Xu, Zheng-Yan-Ran ZY; Guo, Yi Y

Publication Date: 2022

Variant appearance in text: PSEN1: N135S

PubMed Link: 35936776

Variant Present in the following documents:

• Main text
• fnagi-14-926982.pdf

View BVdb publication page

---

Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry

Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ

Publication Date: 2021

Variant appearance in text: PS1: N135S

PubMed Link: 33571524

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Longitudinal Accumulation of Cerebral Microhemorrhages in Dominantly Inherited Alzheimer Disease.

Neurology

Joseph-Mathurin, Nelly N; Wang, Guoqiao G; Kantarci, Kejal K; Jack, Clifford R CR; McDade, Eric E; Hassenstab, Jason J; Blazey, Tyler M TM; Gordon, Brian A BA; Su, Yi Y; Chen, Gengsheng G; Massoumzadeh, Parinaz P; Hornbeck, Russ C RC; Allegri, Ricardo F RF; Ances, Beau M BM; Berman, Sarah B SB; Brickman, Adam M AM; Brooks, William S WS; Cash, David M DM; Chhatwal, Jasmeer P JP; Chui, Helena C HC; Correia, Stephen S; Cruchaga, Carlos C; Farlow, Martin R MR; Fox, Nick C NC; Fulham, Michael M; Ghetti, Bernardino B; Graff-Radford, Neill R NR; Johnson, Keith A KA; Karch, Celeste M CM; Laske, Christoph C; Lee, Athene K W AKW; Levin, Johannes J; Masters, Colin L CL; Noble, James M JM; O'Connor, Antoinette A; Perrin, Richard J RJ; Preboske, Gregory M GM; Ringman, John M JM; Rowe, Christopher C CC; Salloway, Stephen S; Saykin, Andrew J AJ; Schofield, Peter R PR; Shimada, Hiroyuki H; Shoji, Mikio M; Suzuki, Kazushi K; Villemagne, Victor L VL; Xiong, Chengjie C; Yakushev, Igor I; Morris, John C JC; Bateman, Randall J RJ; Benzinger, Tammie L S TLS; ,

Publication Date: 2021-03-23

Variant appearance in text: PSEN1: N135S

PubMed Link: 33495373

Variant Present in the following documents:

• NEUROLOGY2020069963.pdf

View BVdb publication page

---

An Overview of Experimental and Clinical Spinal Cord Findings in Alzheimer's Disease.

Brain Sciences

Xie, Qing Q; Zhao, Wei-Jiang WJ; Ou, Guan-Yong GY; Xue, Wei-Kang WK

Publication Date: 2019-07-17

Variant appearance in text: PSEN1: N135S

PubMed Link: 31319495

Variant Present in the following documents:

• Main text
• brainsci-09-00168.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: N135S

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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: N135S

PubMed Link: 30546007

Variant Present in the following documents:

• Main text
• 41398_2018_Article_319.pdf

View BVdb publication page

---

The genes associated with early-onset Alzheimer's disease.

Oncotarget

Dai, Meng-Hui MH; Zheng, Hui H; Zeng, Ling-Dan LD; Zhang, Yan Y

Publication Date: 2018-03-13

Variant appearance in text: PS1: N135S

PubMed Link: 29599933

Variant Present in the following documents:

• oncotarget-09-15132.pdf

View BVdb publication page

---

Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.

Neurobiology Of Aging

Natelson Love, Marissa M; Clark, David G DG; Cochran, J Nicholas JN; Den Beste, Kyle A KA; Geldmacher, David S DS; Benzinger, Tammie L TL; Gordon, Brian A BA; Morris, John C JC; Bateman, Randall J RJ; Roberson, Erik D ED

Publication Date: 2017-01

Variant appearance in text: PSEN1: N135S

PubMed Link: 27793474

Variant Present in the following documents:

• Main text

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: N135S

PubMed Link: 26888304

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: Asn135Ser

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Convergence of pathology in dementia with Lewy bodies and Alzheimer's disease: a role for the novel interaction of alpha-synuclein and presenilin 1 in disease.

Brain : A Journal Of Neurology

Winslow, Ashley R AR; Moussaud, Simon S; Zhu, Liya L; Post, Kathryn L KL; Post, Katherine L KL; Dickson, Dennis W DW; Berezovska, Oksana O; McLean, Pamela J PJ

Publication Date: 2014-07

Variant appearance in text: PSEN1: N135S

PubMed Link: 24860142

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: Asn135Ser

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

---

Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease.

Brain : A Journal Of Neurology

Shinohara, Mitsuru M; Fujioka, Shinsuke S; Murray, Melissa E ME; Wojtas, Aleksandra A; Baker, Matthew M; Rovelet-Lecrux, Anne A; Rademakers, Rosa R; Das, Pritam P; Parisi, Joseph E JE; Graff-Radford, Neill R NR; Petersen, Ronald C RC; Dickson, Dennis W DW; Bu, Guojun G

Publication Date: 2014-05

Variant appearance in text: PSEN1: N135S

PubMed Link: 24625695

Variant Present in the following documents:

• Main text

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: N135S

PubMed Link: 24401146

Variant Present in the following documents:

• Main text
• bi401537v.pdf

View BVdb publication page

---

Genetics of Alzheimer's disease.

Biomed Research International

Ridge, Perry G PG; Ebbert, Mark T W MT; Kauwe, John S K JS

Publication Date: 2013

Variant appearance in text: PSEN1: N135S

PubMed Link: 23984328

Variant Present in the following documents:

• BMRI2013-254954.pdf

View BVdb publication page

---

C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

American Journal Of Neurodegenerative Disease

Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R

Publication Date: 2012

Variant appearance in text: PSEN1: 404A>G; Asn135Ser

PubMed Link: 23383383

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

Neurobiology Of Aging

Lohmann, Ebba E; Guerreiro, Rita J RJ; Erginel-Unaltuna, Nihan N; Gurunlian, Nicole N; Bilgic, Basar B; Gurvit, Hakan H; Hanagasi, Hasmet A HA; Luu, Nga N; Emre, Murat M; Singleton, Andrew A

Publication Date: 2012-08

Variant appearance in text: PSEN1: N135S

PubMed Link: 22503161

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: N135S

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetics of Alzheimer disease.

Journal Of Geriatric Psychiatry And Neurology

Bekris, Lynn M LM; Yu, Chang-En CE; Bird, Thomas D TD; Tsuang, Debby W DW

Publication Date: 2010-12

Variant appearance in text: PSEN1: N135S

PubMed Link: 21045163

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

Alzheimer Disease And Associated Disorders

Rudzinski, Leslie A LA; Fletcher, Rita M RM; Dickson, Dennis W DW; Crook, Richard R; Hutton, Michael L ML; Adamson, Jennifer J; Graff-Radford, Neill R NR

Publication Date: 2008

Variant appearance in text: PSEN1: N135S

PubMed Link: 18580586

Variant Present in the following documents:

• Main text

View BVdb publication page

---