APP c.2158_2159delinsCC ;(p.L720P)

Variant ID: 21-27264086-AA-GG

NM_000484.3(APP):c.2158_2159delinsCC;(p.L720P)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Can Anti-β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?

Neurology. Genetics
Imbimbo, Bruno P BP; Lucca, Ugo U; Watling, Mark M
Publication Date: 2021-02

Variant appearance in text: APP: L720P
PubMed Link: 33575481
Variant Present in the following documents:
  • NG2020014183.pdf
View BVdb publication page



Reconsideration of Amyloid Hypothesis and Tau Hypothesis in Alzheimer's Disease.

Frontiers In Neuroscience
Kametani, Fuyuki F; Hasegawa, Masato M
Publication Date: 2018

Variant appearance in text: APP: L720P
PubMed Link: 29440986
Variant Present in the following documents:
  • fnins-12-00025.pdf
View BVdb publication page



Dynamic Nature of presenilin1/γ-Secretase: Implication for Alzheimer's Disease Pathogenesis.

Molecular Neurobiology
Zoltowska, Katarzyna Marta KM; Berezovska, Oksana O
Publication Date: 2018-03

Variant appearance in text: APP: L720P
PubMed Link: 28332150
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modulation of γ-secretase by EVP-0015962 reduces amyloid deposition and behavioral deficits in Tg2576 mice.

Molecular Neurodegeneration
Rogers, Kathryn K; Felsenstein, Kevin M KM; Hrdlicka, Lori L; Tu, Zhiming Z; Albayya, Faris F; Lee, Winnie W; Hopp, Sarah S; Miller, Mary-Jo MJ; Spaulding, Darcie D; Yang, Zhiyong Z; Hodgdon, Hilliary H; Nolan, Scott S; Wen, Melody M; Costa, Don D; Blain, Jean-Francois JF; Freeman, Emily E; De Strooper, Bart B; Vulsteke, Veerle V; Scrocchi, Louise L; Zetterberg, Henrik H; Portelius, Erik E; Hutter-Paier, Birgit B; Havas, Daniel D; Ahlijanian, Michael M; Flood, Dorothy D; Leventhal, Liza L; Shapiro, Gideon G; Patzke, Holger H; Chesworth, Richard R; Koenig, Gerhard G
Publication Date: 2012-12-18

Variant appearance in text: APP: L720P
PubMed Link: 23249765
Variant Present in the following documents:
  • 1750-1326-7-61.pdf
View BVdb publication page



Modification of γ-secretase by nitrosative stress links neuronal ageing to sporadic Alzheimer's disease.

Embo Molecular Medicine
Guix, Francesc X FX; Wahle, Tina T; Vennekens, Kristel K; Snellinx, An A; Chávez-Gutiérrez, Lucía L; Ill-Raga, Gerard G; Ramos-Fernandez, Eva E; Guardia-Laguarta, Cristina C; Lleó, Alberto A; Arimon, Muriel M; Berezovska, Oksana O; Muñoz, Francisco J FJ; Dotti, Carlos G CG; De Strooper, Bart B
Publication Date: 2012-07

Variant appearance in text: APP: L720P
PubMed Link: 22488900
Variant Present in the following documents:
  • emmm0004-0660-SD1.pdf
View BVdb publication page



Reciprocal relationship between APP positioning relative to the membrane and PS1 conformation.

Molecular Neurodegeneration
Uemura, Kengo K; Farner, Katherine C KC; Nasser-Ghodsi, Navine N; Jones, Phill P; Berezovska, Oksana O
Publication Date: 2011-02-10

Variant appearance in text: APP: L720P
PubMed Link: 21310068
Variant Present in the following documents:
  • 1750-1326-6-15.pdf
View BVdb publication page



Allosteric modulation of PS1/gamma-secretase conformation correlates with amyloid beta(42/40) ratio.

Plos One
Uemura, Kengo K; Lill, Christina M CM; Li, Xuejing X; Peters, Jessica A JA; Ivanov, Alexander A; Fan, Zhanyun Z; DeStrooper, Bart B; Bacskai, Brian J BJ; Hyman, Bradley T BT; Berezovska, Oksana O
Publication Date: 2009-11-18

Variant appearance in text: APP: L720P
PubMed Link: 19924286
Variant Present in the following documents:
  • pone.0007893.pdf
View BVdb publication page



Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase.

Molecular And Cellular Neurosciences
Herl, Lauren L; Thomas, Anne V AV; Lill, Christina M CM; Banks, Mary M; Deng, Amy A; Jones, Phill B PB; Spoelgen, Robert R; Hyman, Bradley T BT; Berezovska, Oksana O
Publication Date: 2009-06

Variant appearance in text: APP: L720P
PubMed Link: 19281847
Variant Present in the following documents:
  • Main text
View BVdb publication page