PSEN1 c.449T>C ;(p.L150P)

Variant ID: 14-73640384-T-C

NM_000021.3(PSEN1):c.449T>C;(p.L150P)

This variant was identified in 24 publications

View GRCh38 version.




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: Leu150Pro
PubMed Link: 37176125
Variant Present in the following documents:
  • Main text
  • ijms-24-08417.pdf
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Golgi fragmentation - One of the earliest organelle phenotypes in Alzheimer's disease neurons.

Frontiers In Neuroscience
Haukedal, Henriette H; Corsi, Giulia I GI; Gadekar, Veerendra P VP; Doncheva, Nadezhda T NT; Kedia, Shekhar S; de Haan, Noortje N; Chandrasekaran, Abinaya A; Jensen, Pia P; Schiønning, Pernille P; Vallin, Sarah S; Marlet, Frederik Ravnkilde FR; Poon, Anna A; Pires, Carlota C; Agha, Fawzi Khoder FK; Wandall, Hans H HH; Cirera, Susanna S; Simonsen, Anja Hviid AH; Nielsen, Troels Tolstrup TT; Nielsen, Jørgen Erik JE; Hyttel, Poul P; Muddashetty, Ravi R; Aldana, Blanca I BI; Gorodkin, Jan J; Nair, Deepak D; Meyer, Morten M; Larsen, Martin Røssel MR; Freude, Kristine K
Publication Date: 2023

Variant appearance in text: PSEN1: L150P
PubMed Link: 36875643
Variant Present in the following documents:
  • Main text
  • fnins-17-1120086.pdf
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CRISPR/Cas9 gene editing: New hope for Alzheimer's disease therapeutics.

Journal Of Advanced Research
Bhardwaj, Shanu S; Kesari, Kavindra Kumar KK; Rachamalla, Mahesh M; Mani, Shalini S; Ashraf, Ghulam Md GM; Jha, Saurabh Kumar SK; Kumar, Pravir P; Ambasta, Rashmi K RK; Dureja, Harish H; Devkota, Hari Prasad HP; Gupta, Gaurav G; Chellappan, Dinesh Kumar DK; Singh, Sachin Kumar SK; Dua, Kamal K; Ruokolainen, Janne J; Kamal, Mohammad Amjad MA; Ojha, Shreesh S; Jha, Niraj Kumar NK
Publication Date: 2022-09

Variant appearance in text: PSEN1: L150P
PubMed Link: 36100328
Variant Present in the following documents:
  • main.pdf
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Human iPSC-Derived Neural Models for Studying Alzheimer's Disease: from Neural Stem Cells to Cerebral Organoids.

Stem Cell Reviews And Reports
Barak, Martin M; Fedorova, Veronika V; Pospisilova, Veronika V; Raska, Jan J; Vochyanova, Simona S; Sedmik, Jiri J; Hribkova, Hana H; Klimova, Hana H; Vanova, Tereza T; Bohaciakova, Dasa D
Publication Date: 2022-02

Variant appearance in text: PSEN1: L150P
PubMed Link: 35107767
Variant Present in the following documents:
  • Main text
View BVdb publication page



Live-Cell Imaging of Single Neurotrophin Receptor Molecules on Human Neurons in Alzheimer's Disease.

International Journal Of Molecular Sciences
Barabás, Klaudia K; Kobolák, Julianna J; Godó, Soma S; Kovács, Tamás T; Ernszt, Dávid D; Kecskés, Miklós M; Varga, Csaba C; Jánosi, Tibor Z TZ; Fujiwara, Takahiro T; Kusumi, Akihiro A; Téglási, Annamária A; Dinnyés, András A; Ábrahám, István M IM
Publication Date: 2021-12-09

Variant appearance in text: PSEN1: 449T>C; L150P
PubMed Link: 34948057
Variant Present in the following documents:
  • Main text
  • ijms-22-13260.pdf
View BVdb publication page



Live-Cell Imaging of Single Neurotrophin Receptor Molecules on Human Neurons in Alzheimer's Disease.

International Journal Of Molecular Sciences
Barabás, Klaudia K; Kobolák, Julianna J; Godó, Soma S; Kovács, Tamás T; Ernszt, Dávid D; Kecskés, Miklós M; Varga, Csaba C; Jánosi, Tibor Z TZ; Fujiwara, Takahiro T; Kusumi, Akihiro A; Téglási, Annamária A; Dinnyés, András A; Ábrahám, István M IM
Publication Date: 2021-12-09

Variant appearance in text: PSEN1: 449T>C; L150P
PubMed Link: 34948057
Variant Present in the following documents:
  • Main text
  • ijms-22-13260.pdf
View BVdb publication page



Gene Editing and Alzheimer's Disease: Is There Light at the End of the Tunnel?

Frontiers In Genome Editing
Stepanichev, Mikhail M
Publication Date: 2020

Variant appearance in text: PSEN1: L150P
PubMed Link: 34713213
Variant Present in the following documents:
  • fgeed-02-00004.pdf
View BVdb publication page



Neuronal α-amylase is important for neuronal activity and glycogenolysis and reduces in presence of amyloid beta pathology.

Aging Cell
Byman, Elin E; Martinsson, Isak I; Haukedal, Henriette H; , ; Gouras, Gunnar G; Freude, Kristine K KK; Wennström, Malin M
Publication Date: 2021-08

Variant appearance in text: PSEN1: L150P
PubMed Link: 34261192
Variant Present in the following documents:
  • Main text
  • ACEL-20-e13433.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: L150P
PubMed Link: 34100423
Variant Present in the following documents:
  • Main text
  • NRR-17-31.pdf
View BVdb publication page



CRISPR-Cas9: A Preclinical and Clinical Perspective for the Treatment of Human Diseases.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Sharma, Garima G; Sharma, Ashish Ranjan AR; Bhattacharya, Manojit M; Lee, Sang-Soo SS; Chakraborty, Chiranjib C
Publication Date: 2021-02-03

Variant appearance in text: PSEN1: L150P
PubMed Link: 33238136
Variant Present in the following documents:
  • Main text
View BVdb publication page



CRISPR-Cas9: A Promising Genome Editing Therapeutic Tool for Alzheimer's Disease-A Narrative Review.

Neurology And Therapy
Barman, Nirmal Chandra NC; Khan, Niuz Morshed NM; Islam, Maidul M; Nain, Zulkar Z; Roy, Rajib Kanti RK; Haque, Anwarul A; Barman, Shital Kumar SK
Publication Date: 2020-12

Variant appearance in text: PSEN1: L150P
PubMed Link: 33089409
Variant Present in the following documents:
  • 40120_2020_Article_218.pdf
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The Impact of CRISPR-Cas9 on Age-related Disorders: From Pathology to Therapy.

Aging And Disease
Caobi, Allen A; Dutta, Rajib Kumar RK; Garbinski, Luis D LD; Esteban-Lopez, Maria M; Ceyhan, Yasemin Y; Andre, Mickensone M; Manevski, Marko M; Ojha, Chet Raj CR; Lapierre, Jessica J; Tiwari, Sneham S; Parira, Tiyash T; El-Hage, Nazira N
Publication Date: 2020-07

Variant appearance in text: PSEN1: L150P
PubMed Link: 32765953
Variant Present in the following documents:
  • Main text
  • ad-11-4-895.pdf
View BVdb publication page



Applying gene-editing technology to elucidate the functional consequence of genetic and epigenetic variation in Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)
Schrauben, Michael M; Dempster, Emma E; Lunnon, Katie K
Publication Date: 2020-09

Variant appearance in text: PSEN1: L150P
PubMed Link: 32654206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using human induced pluripotent stem cells (hiPSCs) to investigate the mechanisms by which Apolipoprotein E (APOE) contributes to Alzheimer's disease (AD) risk.

Neurobiology Of Disease
Raman, Sreedevi S; Brookhouser, Nicholas N; Brafman, David A DA
Publication Date: 2020-05

Variant appearance in text: PSEN1: L150P
PubMed Link: 32032733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Episomal Induced Pluripotent Stem Cells: Functional and Potential Therapeutic Applications.

Cell Transplantation
Wang, Aline Yen Ling AYL; Loh, Charles Yuen Yung CYY
Publication Date: 2019-12

Variant appearance in text: PSEN1: L150P
PubMed Link: 31722555
Variant Present in the following documents:
  • 10.1177_0963689719886534.pdf
View BVdb publication page



Modeling Alzheimer's disease with iPSC-derived brain cells.

Molecular Psychiatry
Penney, Jay J; Ralvenius, William T WT; Tsai, Li-Huei LH
Publication Date: 2020-01

Variant appearance in text: PSEN1: L150P
PubMed Link: 31391546
Variant Present in the following documents:
  • Main text
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: L150P
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Modeling Alzheimer's disease with human iPS cells: advancements, lessons, and applications.

Neurobiology Of Disease
Essayan-Perez, Sofia S; Zhou, Bo B; Nabet, Amber M AM; Wernig, Marius M; Huang, Yu-Wen Alvin YA
Publication Date: 2019-10

Variant appearance in text: PSEN1: L150P
PubMed Link: 31202913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modelling mitochondrial dysfunction in Alzheimer's disease using human induced pluripotent stem cells.

World Journal Of Stem Cells
Hawkins, Kate Elizabeth KE; Duchen, Michael M
Publication Date: 2019-05-26

Variant appearance in text: PS1: L150P
PubMed Link: 31171953
Variant Present in the following documents:
  • WJSC-11-236.pdf
View BVdb publication page



Important advances in Alzheimer's disease from the use of induced pluripotent stem cells.

Journal Of Biomedical Science
Majolo, Fernanda F; Marinowic, Daniel Rodrigo DR; Machado, Denise Cantarelli DC; Da Costa, Jaderson Costa JC
Publication Date: 2019-02-06

Variant appearance in text: PS1: L150P
PubMed Link: 30728025
Variant Present in the following documents:
  • Main text
  • 12929_2019_Article_501.pdf
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Modelling Sporadic Alzheimer's Disease Using Induced Pluripotent Stem Cells.

Neurochemical Research
Rowland, Helen A HA; Hooper, Nigel M NM; Kellett, Katherine A B KAB
Publication Date: 2018-12

Variant appearance in text: PSEN1: L150P
PubMed Link: 30387070
Variant Present in the following documents:
  • 11064_2018_Article_2663.pdf
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The Potential of CRISPR/Cas9 Gene Editing as a Treatment Strategy for Alzheimer's Disease.

Journal Of Alzheimer'S Disease & Parkinsonism
Rohn, Troy T TT; Kim, Nayoung N; Isho, Noail F NF; Mack, Jacob M JM
Publication Date: 2018

Variant appearance in text: PSEN1: L150P
PubMed Link: 30090689
Variant Present in the following documents:
  • nihms982523.pdf
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The prospects of CRISPR-based genome engineering in the treatment of neurodegenerative disorders.

Therapeutic Advances In Neurological Disorders
Shin, Jun Wan JW; Lee, Jong-Min JM
Publication Date: 2018

Variant appearance in text: PSEN1: L150P
PubMed Link: 29399048
Variant Present in the following documents:
  • 10.1177_1756285617741837.pdf
View BVdb publication page



Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation.

Alzheimer'S Research & Therapy
Ochalek, Anna A; Mihalik, Balázs B; Avci, Hasan X HX; Chandrasekaran, Abinaya A; Téglási, Annamária A; Bock, István I; Giudice, Maria Lo ML; Táncos, Zsuzsanna Z; Molnár, Kinga K; László, Lajos L; Nielsen, Jørgen E JE; Holst, Bjørn B; Freude, Kristine K; Hyttel, Poul P; Kobolák, Julianna J; Dinnyés, András A
Publication Date: 2017-12-01

Variant appearance in text: PSEN1: 449T>C; L150P
PubMed Link: 29191219
Variant Present in the following documents:
  • Main text
  • 13195_2017_Article_317.pdf
View BVdb publication page