PSEN1 c.313T>C ;(p.F105L)

Variant ID: 14-73637730-T-C

NM_000021.3(PSEN1):c.313T>C;(p.F105L)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Presenilin-1 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway.

Cell & Bioscience
Chong, Cheong-Meng CM; Tan, Yuan Y; Tong, Jiaqi J; Ke, Minjing M; Zhang, Ke K; Yan, Lingli L; Cen, Xiaotong X; Lu, Jia-Hong JH; Chen, Guobing G; Su, Huanxing H; Qin, Dajiang D
Publication Date: 2022-08-14

Variant appearance in text: PS1: F105L
PubMed Link: 35965317
Variant Present in the following documents:
  • Main text
  • 13578_2022_Article_874.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: F105L
PubMed Link: 35959289
Variant Present in the following documents:
  • Main text
  • fnagi-14-860529.pdf
View BVdb publication page



Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine
Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J
Publication Date: 2020-10

Variant appearance in text: PSEN1: 313T>C
PubMed Link: 32767553
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1443.pdf
View BVdb publication page



Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)
Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S
Publication Date: 2020-06-14

Variant appearance in text: PSEN1: Phe105Leu
PubMed Link: 32545847
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00405.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: F105L
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Amyloid polymorphisms constitute distinct clouds of conformational variants in different etiological subtypes of Alzheimer's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Rasmussen, Jay J; Mahler, Jasmin J; Beschorner, Natalie N; Kaeser, Stephan A SA; Häsler, Lisa M LM; Baumann, Frank F; Nyström, Sofie S; Portelius, Erik E; Blennow, Kaj K; Lashley, Tammaryn T; Fox, Nick C NC; Sepulveda-Falla, Diego D; Glatzel, Markus M; Oblak, Adrian L AL; Ghetti, Bernardino B; Nilsson, K Peter R KPR; Hammarström, Per P; Staufenbiel, Matthias M; Walker, Lary C LC; Jucker, Mathias M
Publication Date: 2017-12-05

Variant appearance in text: PSEN1: F105L
PubMed Link: 29158413
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: Phe105Leu
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: Phe105Leu
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.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: F105L
PubMed Link: 24377094
Variant Present in the following documents:
  • BMRI2013-689591.pdf
View BVdb publication page



Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.

American Journal Of Neurodegenerative Disease
Roher, Alex E AE; Maarouf, Chera L CL; Malek-Ahmadi, Michael M; Wilson, Jeffrey J; Kokjohn, Tyler A TA; Daugs, Ian D ID; Whiteside, Charisse M CM; Kalback, Walter M WM; Macias, Mimi P MP; Jacobson, Sandra A SA; Sabbagh, Marwan N MN; Ghetti, Bernardino B; Beach, Thomas G TG
Publication Date: 2013

Variant appearance in text: PSEN1: F105L
PubMed Link: 24093083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.

Molecular Neurodegeneration
Maarouf, Chera L CL; Daugs, Ian D ID; Spina, Salvatore S; Vidal, Ruben R; Kokjohn, Tyler A TA; Patton, R Lyle RL; Kalback, Walter M WM; Luehrs, Dean C DC; Walker, Douglas G DG; Castaño, Eduardo M EM; Beach, Thomas G TG; Ghetti, Bernardino B; Roher, Alex E AE
Publication Date: 2008-11-20

Variant appearance in text: PSEN1: F105L
PubMed Link: 19021905
Variant Present in the following documents:
  • Main text
  • 1750-1326-3-20.pdf
View BVdb publication page



High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

American Journal Of Human Genetics
Finckh, U U; Müller-Thomsen, T T; Mann, U U; Eggers, C C; Marksteiner, J J; Meins, W W; Binetti, G G; Alberici, A A; Hock, C C; Nitsch, R M RM; Gal, A A
Publication Date: 2000-01

Variant appearance in text: PS1: F105L
PubMed Link: 10631141
Variant Present in the following documents:
  • Main text
View BVdb publication page