PSEN1 c.436A>C ;(p.M146L)

Variant ID: 14-73640371-A-C

NM_000021.3(PSEN1):c.436A>C;(p.M146L)

This variant was identified in 820 publications

View GRCh38 version.




Publications:


Ginsenoside Rg1 ameliorates Alzheimer's disease pathology via restoring mitophagy.

Journal Of Ginseng Research
Wang, Ni N; Yang, Junyan J; Chen, Ruijun R; Liu, Yunyun Y; Liu, Shunjie S; Pan, Yining Y; Lei, Qingfeng Q; Wang, Yuzhou Y; He, Lu L; Song, Youqiang Y; Li, Zhong Z
Publication Date: 2023-05

Variant appearance in text: PSEN1: M146L
PubMed Link: 37252274
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



"Dirty Dancing" of Calcium and Autophagy in Alzheimer's Disease.

Life (Basel, Switzerland)
Zhang, Hua H; Bezprozvanny, Ilya I
Publication Date: 2023-05-15

Variant appearance in text: PS1: M146L
PubMed Link: 37240832
Variant Present in the following documents:
  • Main text
  • life-13-01187.pdf
View BVdb publication page



Complexity of Sex Differences and Their Impact on Alzheimer's Disease.

Biomedicines
Kadlecova, Marion M; Freude, Kristine K; Haukedal, Henriette H
Publication Date: 2023-04-24

Variant appearance in text: PSEN1: M146L
PubMed Link: 37238932
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01261.pdf
View BVdb publication page



Senescence-related impairment of autophagy induces toxic intraneuronal amyloid-β accumulation in a mouse model of amyloid pathology.

Acta Neuropathologica Communications
Suelves, Nuria N; Saleki, Shirine S; Ibrahim, Tasha T; Palomares, Debora D; Moonen, Sebastiaan S; Koper, Marta J MJ; Vrancx, Céline C; Vadukul, Devkee M DM; Papadopoulos, Nicolas N; Viceconte, Nikenza N; Claude, Eloïse E; Vandenberghe, Rik R; von Arnim, Christine A F CAF; Constantinescu, Stefan N SN; Thal, Dietmar Rudolf DR; Decottignies, Anabelle A; Kienlen-Campard, Pascal P
Publication Date: 2023-05-17

Variant appearance in text: PSEN1: M146L
PubMed Link: 37198698
Variant Present in the following documents:
  • Main text
  • 40478_2023_Article_1578.pdf
View BVdb publication page



Suspension TRAPping Filter (sTRAP) Sample Preparation for Quantitative Proteomics in the Low µg Input Range Using a Plasmid DNA Micro-Spin Column: Analysis of the Hippocampus from the 5xFAD Alzheimer's Disease Mouse Model.

Cells
Thanou, Evangelia E; Koopmans, Frank F; Pita-Illobre, Débora D; Klaassen, Remco V RV; Özer, Berna B; Charalampopoulos, Ioannis I; Smit, August B AB; Li, Ka Wan KW
Publication Date: 2023-04-25

Variant appearance in text: PSEN1: M146L
PubMed Link: 37174641
Variant Present in the following documents:
  • Main text
  • cells-12-01242.pdf
View BVdb publication page



GAP-43 closely interacts with BDNF in hippocampal neurons and is associated with Alzheimer's disease progression.

Frontiers In Molecular Neuroscience
Lee, Ye Ji YJ; Jeong, Ye Ji YJ; Kang, Eun Ji EJ; Kang, Beom Seok BS; Lee, Song Hee SH; Kim, You Jin YJ; Kang, Seong Su SS; Suh, Sang Won SW; Ahn, Eun Hee EH
Publication Date: 2023

Variant appearance in text: PSEN1: M146L
PubMed Link: 37143467
Variant Present in the following documents:
  • Main text
  • fnmol-16-1150399.pdf
View BVdb publication page



Gamma sensory entrainment for cognitive improvement in neurodegenerative diseases: opportunities and challenges ahead.

Frontiers In Integrative Neuroscience
Sahu, Prangya Parimita PP; Tseng, Philip P
Publication Date: 2023

Variant appearance in text: PSEN1: M146L
PubMed Link: 37138796
Variant Present in the following documents:
  • Main text
  • fnint-17-1146687.pdf
View BVdb publication page



A comparison of machine learning approaches for the quantification of microglial cells in the brain of mice, rats and non-human primates.

Plos One
Anwer, Danish M DM; Gubinelli, Francesco F; Kurt, Yunus A YA; Sarauskyte, Livija L; Jacobs, Febe F; Venuti, Chiara C; Sandoval, Ivette M IM; Yang, Yiyi Y; Stancati, Jennifer J; Mazzocchi, Martina M; Brandi, Edoardo E; O'Keeffe, Gerard G; Steece-Collier, Kathy K; Li, Jia-Yi JY; Deierborg, Tomas T; Manfredsson, Fredric P FP; Davidsson, Marcus M; Heuer, Andreas A
Publication Date: 2023

Variant appearance in text: PSEN1: M146L
PubMed Link: 37126506
Variant Present in the following documents:
  • Main text
  • pone.0284480.pdf
View BVdb publication page



What can traditional Chinese medicine do for adult neurogenesis?

Frontiers In Neuroscience
Shen, Wei W; Jiang, Ning N; Zhou, Wenxia W
Publication Date: 2023

Variant appearance in text: PSEN1: M146L
PubMed Link: 37123359
Variant Present in the following documents:
  • Main text
  • fnins-17-1158228.pdf
View BVdb publication page



Brain Region-Specific Differences in Amyloid-β Plaque Composition in 5XFAD Mice.

Life (Basel, Switzerland)
Bader, Angelika Sabine AS; Gnädig, Marius-Uwe MU; Fricke, Merle M; Büschgens, Luca L; Berger, Lena Josefine LJ; Klafki, Hans-Wolfgang HW; Meyer, Thomas T; Jahn, Olaf O; Weggen, Sascha S; Wirths, Oliver O
Publication Date: 2023-04-20

Variant appearance in text: PSEN1: M146L
PubMed Link: 37109582
Variant Present in the following documents:
  • Main text
  • life-13-01053.pdf
View BVdb publication page



Alzheimer's disease-specific cytokine secretion suppresses neuronal mitochondrial metabolism.

Biorxiv : The Preprint Server For Biology
Kuhn, Madison K MK; Fleeman, Rebecca M RM; Beidler, Lynne M LM; Snyder, Amanda M AM; Chan, Dennis C DC; Proctor, Elizabeth A EA
Publication Date: 2023-04-07

Variant appearance in text: PSEN1: M146L
PubMed Link: 37066287
Variant Present in the following documents:
  • Main text
  • nihpp-2023.04.07.536014v1.pdf
View BVdb publication page



Long-Term Administration of Vespa velutina nigrithorax Venom Ameliorates Alzheimer's Phenotypes in 5xFAD Transgenic Mice.

Toxins
Jeong, Yoon Ah YA; Yun, Hyun Seok HS; Kim, Yoonsu Y; Jang, Chan Ho CH; Lim, Ji Sun JS; Kim, Hyo Jung HJ; Choi, Moon Bo MB; Jung, Jae Woo JW; Oh, Jisun J; Kim, Jong-Sang JS
Publication Date: 2023-03-06

Variant appearance in text: PSEN1: M146L
PubMed Link: 36977094
Variant Present in the following documents:
  • Main text
  • toxins-15-00203.pdf
View BVdb publication page



Neutrophils as a potential therapeutic target in Alzheimer's disease.

Frontiers In Immunology
Aries, Michelle L ML; Hensley-McBain, Tiffany T
Publication Date: 2023

Variant appearance in text: PSEN1: M146L
PubMed Link: 36936930
Variant Present in the following documents:
  • Main text
  • fimmu-14-1123149.pdf
View BVdb publication page



EMBER multidimensional spectral microscopy enables quantitative determination of disease- and cell-specific amyloid strains.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Yang, Hyunjun H; Yuan, Peng P; Wu, Yibing Y; Shi, Marie M; Caro, Christoffer D CD; Tengeiji, Atsushi A; Yamanoi, Shigeo S; Inoue, Masahiro M; DeGrado, William F WF; Condello, Carlo C
Publication Date: 2023-03-21

Variant appearance in text: PSEN1: M146L
PubMed Link: 36927157
Variant Present in the following documents:
  • pnas.2300769120.sapp.pdf
View BVdb publication page



Attenuation of Alzheimer's brain pathology in 5XFAD mice by PTH1-34, a peptide of parathyroid hormone.

Alzheimer'S Research & Therapy
Chen, Li L; Xiong, Lei L; Yao, Lingling L; Pan, Jinxiu J; Arzola, Emily E; Zhu, Xiaojuan X; Mei, Lin L; Xiong, Wen-Cheng WC
Publication Date: 2023-03-14

Variant appearance in text: PSEN1: M146L
PubMed Link: 36918976
Variant Present in the following documents:
  • Main text
  • 13195_2023_Article_1202.pdf
View BVdb publication page



Sex Differences between Neuronal Loss and the Early Onset of Amyloid Deposits and Behavioral Consequences in 5xFAD Transgenic Mouse as a Model for Alzheimer's Disease.

Cells
Poon, Chi Him CH; Wong, San Tung Nicholas STN; Roy, Jaydeep J; Wang, Yingyi Y; Chan, Hui Wang Hujo HWH; Steinbusch, Harry H; Blokland, Arjan A; Temel, Yasin Y; Aquili, Luca L; Lim, Lee Wei LW
Publication Date: 2023-03-01

Variant appearance in text: PS1: M146L
PubMed Link: 36899916
Variant Present in the following documents:
  • Main text
  • cells-12-00780.pdf
View BVdb publication page



Integrated multi-omics analysis of Alzheimer's disease shows molecular signatures associated with disease progression and potential therapeutic targets.

Scientific Reports
Kodam, Pradeep P; Sai Swaroop, R R; Pradhan, Sai Sanwid SS; Sivaramakrishnan, Venketesh V; Vadrevu, Ramakrishna R
Publication Date: 2023-03-06

Variant appearance in text: PS1: M146L
PubMed Link: 36879094
Variant Present in the following documents:
  • 41598_2023_30892_MOESM12_ESM.pdf
View BVdb publication page



From attention-deficit hyperactivity disorder to sporadic Alzheimer's disease-Wnt/mTOR pathways hypothesis.

Frontiers In Neuroscience
Grünblatt, Edna E; Homolak, Jan J; Babic Perhoc, Ana A; Davor, Virag V; Knezovic, Ana A; Osmanovic Barilar, Jelena J; Riederer, Peter P; Walitza, Susanne S; Tackenberg, Christian C; Salkovic-Petrisic, Melita M
Publication Date: 2023

Variant appearance in text: PSEN1: M146L
PubMed Link: 36875654
Variant Present in the following documents:
  • Main text
  • fnins-17-1104985.pdf
View BVdb publication page



CREB3L2-ATF4 heterodimerization defines a transcriptional hub of Alzheimer's disease gene expression linked to neuropathology.

Science Advances
Gouveia Roque, Cláudio C; Chung, Kyung Min KM; McCurdy, Ethan P EP; Jagannathan, Radhika R; Randolph, Lisa K LK; Herline-Killian, Krystal K; Baleriola, Jimena J; Hengst, Ulrich U
Publication Date: 2023-03-03

Variant appearance in text: PS1: M146L
PubMed Link: 36867706
Variant Present in the following documents:
  • Main text
  • sciadv.add2671.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: 436A>C; Met146Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Investigational treatments for neurodegenerative diseases caused by inheritance of gene mutations: lessons from recent clinical trials.

Neural Regeneration Research
Imbimbo, Bruno P BP; Triaca, Viviana V; Imbimbo, Camillo C; Nisticò, Robert R
Publication Date: 2023-08

Variant appearance in text: PSEN1: M146L
PubMed Link: 36751779
Variant Present in the following documents:
  • NRR-18-1679.pdf
View BVdb publication page



Noncanonical regulation of imprinted gene Igf2 by amyloid-beta 1-42 in Alzheimer's disease.

Scientific Reports
Fertan, Emre E; Gendron, William H WH; Wong, Aimée A AA; Hanson, Gabrielle M GM; Brown, Richard E RE; Weaver, Ian C G ICG
Publication Date: 2023-02-04

Variant appearance in text: PS1: M146L
PubMed Link: 36739453
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_29248.pdf
View BVdb publication page



TNEA therapy promotes the autophagic degradation of NLRP3 inflammasome in a transgenic mouse model of Alzheimer's disease via TFEB/TFE3 activation.

Journal Of Neuroinflammation
Lin, Wenjia W; Li, Zhao Z; Liang, Guangfeng G; Zhou, Runjin R; Zheng, Xiaoyan X; Tao, Rongrong R; Huo, Qingwei Q; Su, Chengfu C; Li, Min M; Xu, Nenggui N; Tang, Chunzhi C; Song, Ju-Xian JX
Publication Date: 2023-02-02

Variant appearance in text: PSEN1: M146L
PubMed Link: 36732771
Variant Present in the following documents:
  • Main text
  • 12974_2023_Article_2698.pdf
View BVdb publication page



Anti-malaria drug artesunate prevents development of amyloid-β pathology in mice by upregulating PICALM at the blood-brain barrier.

Molecular Neurodegeneration
Kisler, Kassandra K; Sagare, Abhay P AP; Lazic, Divna D; Bazzi, Sam S; Lawson, Erica E; Hsu, Ching-Ju CJ; Wang, Yaoming Y; Ramanathan, Anita A; Nelson, Amy R AR; Zhao, Zhen Z; Zlokovic, Berislav V BV
Publication Date: 2023-01-27

Variant appearance in text: PS1: M146L
PubMed Link: 36707892
Variant Present in the following documents:
  • Main text
  • 13024_2023_Article_597.pdf
View BVdb publication page



Leveraging genetic diversity in mice to inform individual differences in brain microstructure and memory.

Frontiers In Behavioral Neuroscience
Murdy, Thomas J TJ; Dunn, Amy R AR; Singh, Surjeet S; Telpoukhovskaia, Maria A MA; Zhang, Shanrong S; White, Jacqueline K JK; Kahn, Itamar I; Febo, Marcelo M; Kaczorowski, Catherine C CC
Publication Date: 2022

Variant appearance in text: PSEN1: M146L
PubMed Link: 36703722
Variant Present in the following documents:
  • Main text
  • fnbeh-16-1033975.pdf
View BVdb publication page



Deletion of the Alzheimer's disease risk gene Abi3 locus results in obesity and systemic metabolic disruption in mice.

Frontiers In Aging Neuroscience
Smith, Daniel C DC; Karahan, Hande H; Wijeratne, H R Sagara HRS; Al-Amin, Mamun M; McCord, Brianne B; Moon, Younghye Y; Kim, Jungsu J
Publication Date: 2022

Variant appearance in text: PSEN1: M146L
PubMed Link: 36620768
Variant Present in the following documents:
  • fnagi-14-1035572.pdf
View BVdb publication page



Knee osteoarthritis accelerates amyloid beta deposition and neurodegeneration in a mouse model of Alzheimer's disease.

Molecular Brain
Gupta, Deepak Prasad DP; Lee, Young-Sun YS; Choe, Youngshik Y; Kim, Kun-Tae KT; Song, Gyun Jee GJ; Hwang, Sun-Chul SC
Publication Date: 2023-01-02

Variant appearance in text: PSEN1: M146L
PubMed Link: 36593507
Variant Present in the following documents:
  • Main text
  • 13041_2022_Article_986.pdf
View BVdb publication page



Novel Algorithm of Network Calcium Dynamics Analysis for Studying the Role of Astrocytes in Neuronal Activity in Alzheimer's Disease Models.

International Journal Of Molecular Sciences
Mitroshina, Elena V EV; Pakhomov, Alexander M AM; Krivonosov, Mikhail I MI; Yarkov, Roman S RS; Gavrish, Maria S MS; Shkirin, Alexey V AV; Ivanchenko, Mikhail V MV; Vedunova, Maria V MV
Publication Date: 2022-12-14

Variant appearance in text: PSEN1: M146L
PubMed Link: 36555569
Variant Present in the following documents:
  • Main text
  • ijms-23-15928.pdf
View BVdb publication page



Glial Gap Junction Pathology in the Spinal Cord of the 5xFAD Mouse Model of Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Pechlivanidou, Maria M; Kousiappa, Ioanna I; Angeli, Stella S; Sargiannidou, Irene I; Koupparis, Andreas M AM; Papacostas, Savvas S SS; Kleopa, Kleopas A KA
Publication Date: 2022-12-09

Variant appearance in text: PSEN1: M146L
PubMed Link: 36555237
Variant Present in the following documents:
  • Main text
  • ijms-23-15597.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: M146L
PubMed Link: 36478742
Variant Present in the following documents:
  • Main text
  • fcell-10-1030390.pdf
View BVdb publication page



Comprehensive analysis of dysregulated circular RNAs and construction of a ceRNA network involved in the pathology of Alzheimer's disease in a 5 × FAD mouse model.

Frontiers In Aging Neuroscience
Sun, Ting T; Zeng, Li L; Cai, Zhongdi Z; Liu, Qingshan Q; Li, Zhuorong Z; Liu, Rui R
Publication Date: 2022

Variant appearance in text: PS1: M146L
PubMed Link: 36466608
Variant Present in the following documents:
  • Main text
  • fnagi-14-1020699.pdf
View BVdb publication page



Aryloxypropanolamine targets amyloid aggregates and reverses Alzheimer-like phenotypes in Alzheimer mouse models.

Alzheimer'S Research & Therapy
Lee, Hee Yang HY; Yoon, Soljee S; Lee, Jeong Hwa JH; Park, Keunwan K; Jung, Youngeun Y; Cho, Illhwan I; Lee, Donghee D; Shin, Jisu J; Kim, Kyeonghwan K; Kim, Sunmi S; Kim, Jimin J; Kim, Koeun K; Han, Seung Hoon SH; Kim, Seong Muk SM; Kim, Hye Ju HJ; Kim, Hye Yun HY; Kim, Ikyon I; Kim, Young Soo YS
Publication Date: 2022-11-29

Variant appearance in text: PSEN1: M146L
PubMed Link: 36443837
Variant Present in the following documents:
  • Main text
  • 13195_2022_Article_1112.pdf
View BVdb publication page



Alzheimer's Disease: Treatment Strategies and Their Limitations.

International Journal Of Molecular Sciences
Passeri, Elodie E; Elkhoury, Kamil K; Morsink, Margaretha M; Broersen, Kerensa K; Linder, Michel M; Tamayol, Ali A; Malaplate, Catherine C; Yen, Frances T FT; Arab-Tehrany, Elmira E
Publication Date: 2022-11-12

Variant appearance in text: PSEN1: M146L
PubMed Link: 36430432
Variant Present in the following documents:
  • Main text
  • ijms-23-13954.pdf
View BVdb publication page



MicroRNA super-resolution imaging in blood for Alzheimer's disease.

Bmb Reports
Lee, Mirae M; Woo, Jiwon J; Kim, Sang Tae ST; Moon, Minho M; Kim, Sang Yun SY; Cho, Hanna H; Kim, Sujin S; Kim, Han-Kyeol HK; Park, Jeong-Yoon JY
Publication Date: 2022-11-21

Variant appearance in text: PSEN1: M146L
PubMed Link: 36404596
Variant Present in the following documents:
  • bmb-56-3-190-supple.pdf
View BVdb publication page



Protein Expression of Amino Acid Transporters Is Altered in Isolated Cerebral Microvessels of 5xFAD Mouse Model of Alzheimer's Disease.

Molecular Neurobiology
Puris, Elena E; Saveleva, Liudmila L; de Sousa Maciel, Izaque I; Kanninen, Katja M KM; Auriola, Seppo S; Fricker, Gert G
Publication Date: 2022-11-11

Variant appearance in text: PSEN1: M146L
PubMed Link: 36367657
Variant Present in the following documents:
  • Main text
  • 12035_2022_Article_3111.pdf
View BVdb publication page



The Hidden Role of Non-Canonical Amyloid β Isoforms in Alzheimer's Disease.

Cells
Busch, Lukas L; Eggert, Simone S; Endres, Kristina K; Bufe, Bernd B
Publication Date: 2022-10-29

Variant appearance in text: PS1: M146L
PubMed Link: 36359817
Variant Present in the following documents:
  • Main text
  • cells-11-03421.pdf
View BVdb publication page



Fats, Friends or Foes: Investigating the Role of Short- and Medium-Chain Fatty Acids in Alzheimer's Disease.

Biomedicines
Ameen, Aishat O AO; Freude, Kristine K; Aldana, Blanca I BI
Publication Date: 2022-11-01

Variant appearance in text: PSEN1: M146L
PubMed Link: 36359298
Variant Present in the following documents:
  • biomedicines-10-02778.pdf
View BVdb publication page