APP c.913_914delinsAA ;(p.S305N)

Variant ID: 21-27372449-GA-TT

NM_000484.3(APP):c.913_914delinsAA;(p.S305N)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Recent Advances in the Modeling of Alzheimer's Disease.

Frontiers In Neuroscience
Sasaguri, Hiroki H; Hashimoto, Shoko S; Watamura, Naoto N; Sato, Kaori K; Takamura, Risa R; Nagata, Kenichi K; Tsubuki, Satoshi S; Ohshima, Toshio T; Yoshiki, Atsushi A; Sato, Kenya K; Kumita, Wakako W; Sasaki, Erika E; Kitazume, Shinobu S; Nilsson, Per P; Winblad, Bengt B; Saito, Takashi T; Iwata, Nobuhisa N; Saido, Takaomi C TC
Publication Date: 2022

Variant appearance in text: APP: S305N
PubMed Link: 35431779
Variant Present in the following documents:
  • Main text
  • fnins-16-807473.pdf
View BVdb publication page



Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Ramos, Eliana Marisa EM; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Wojta, Kevin K; Wang, Qing Q; Huang, Alden Y AY; Deverasetty, Sandeep S; Qin, Yue Y; van Blitterswijk, Marka M; Jackson, Jazmyne J; Appleby, Brian B; Bordelon, Yvette Y; Brannelly, Patrick P; Brushaber, Danielle E DE; Dickerson, Bradford B; Dickinson, Susan S; Domoto-Reilly, Kimiko K; Faber, Kelley K; Fields, Julie J; Fong, Jamie J; Foroud, Tatiana T; Forsberg, Leah K LK; Gavrilova, Ralitza R; Ghoshal, Nupur N; Goldman, Jill J; Graff-Radford, Jonathan J; Graff-Radford, Neill N; Grant, Ian I; Grossman, Murray M; Heuer, Hilary W HW; Hsiung, Ging-Yuek R GR; Huey, Edward E; Irwin, David D; Kantarci, Kejal K; Karydas, Anna A; Kaufer, Daniel D; Kerwin, Diana D; Knopman, David D; Kornak, John J; Kramer, Joel H JH; Kremers, Walter W; Kukull, Walter W; Litvan, Irene I; Ljubenkov, Peter P; Lungu, Codrin C; Mackenzie, Ian I; Mendez, Mario F MF; Miller, Bruce L BL; Onyike, Chiadi C; Pantelyat, Alexander A; Pearlman, Rodney R; Petrucelli, Len L; Potter, Madeline M; Rankin, Katherine P KP; Rascovsky, Katya K; Roberson, Erik D ED; Rogalski, Emily E; Shaw, Leslie L; Syrjanen, Jeremy J; Tartaglia, Maria Carmela MC; Tatton, Nadine N; Taylor, Joanne J; Toga, Arthur A; Trojanowski, John Q JQ; Weintraub, Sandra S; Wong, Bonnie B; Wszolek, Zbigniew Z; Rademakers, Rosa R; Boeve, Brad F BF; Rosen, Howard J HJ; Boxer, Adam L AL; , ; Coppola, Giovanni G
Publication Date: 2020-01

Variant appearance in text: APP: Ser305Asn
PubMed Link: 31914217
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia.

Annals Of Clinical And Translational Neurology
Borrego-Écija, Sergi S; Antonell, Anna A; Puig-Butillé, Joan Anton JA; Pericot, Inmaculada I; Prat-Bravo, Carme C; Abellan-Vidal, Maria Teresa MT; Mallada, Javier J; Olives, Jaume J; Falgàs, Neus N; Oliva, Rafael R; Lladó, Albert A; Sánchez-Valle, Raquel R
Publication Date: 2019-08

Variant appearance in text: APP: S305N
PubMed Link: 31402617
Variant Present in the following documents:
  • ACN3-6-1559.pdf
View BVdb publication page



Rates of lobar atrophy in asymptomatic MAPT mutation carriers.

Alzheimer'S & Dementia (New York, N. Y.)
Chen, Qin Q; Boeve, Bradley F BF; Senjem, Matthew M; Tosakulwong, Nirubol N; Lesnick, Timothy G TG; Brushaber, Danielle D; Dheel, Christina C; Fields, Julie J; Forsberg, Leah L; Gavrilova, Ralitza R; Gearhart, Debra D; Graff-Radford, Jonathan J; Graff-Radford, Neill R NR; Jack, Clifford R CR; Jones, David T DT; Knopman, David S DS; Kremers, Walter K WK; Lapid, Maria M; Rademakers, Rosa R; Syrjanen, Jeremy J; Boxer, Adam L AL; Rosen, Howie H; Wszolek, Zbigniew K ZK; Kantarci, Kejal K; ,
Publication Date: 2019

Variant appearance in text: APP: S305N
PubMed Link: 31388560
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathologica
Nicolas, Gaël G; Veltman, Joris A JA
Publication Date: 2019-02

Variant appearance in text: APP: S305N
PubMed Link: 30478624
Variant Present in the following documents:
  • 401_2018_Article_1939.pdf
View BVdb publication page



Untangling Tau and Iron: Exploring the Interaction Between Iron and Tau in Neurodegeneration.

Frontiers In Molecular Neuroscience
Rao, Shalini S SS; Adlard, Paul Anthony PA
Publication Date: 2018

Variant appearance in text: APP: S305N
PubMed Link: 30174587
Variant Present in the following documents:
  • Main text
  • fnmol-11-00276.pdf
View BVdb publication page



Propagation of Tau aggregates.

Molecular Brain
Goedert, Michel M; Spillantini, Maria Grazia MG
Publication Date: 2017-05-30

Variant appearance in text: APP: S305N
PubMed Link: 28558799
Variant Present in the following documents:
  • Main text
  • 13041_2017_Article_298.pdf
View BVdb publication page



Developmental Expression of 4-Repeat-Tau Induces Neuronal Aneuploidy in Drosophila Tauopathy Models.

Scientific Reports
Malmanche, Nicolas N; Dourlen, Pierre P; Gistelinck, Marc M; Demiautte, Florie F; Link, Nichole N; Dupont, Cloé C; Vanden Broeck, Lies L; Werkmeister, Elisabeth E; Amouyel, Philippe P; Bongiovanni, Antonino A; Bauderlique, Hélène H; Moechars, Dieder D; Royou, Anne A; Bellen, Hugo J HJ; Lafont, Frank F; Callaerts, Patrick P; Lambert, Jean-Charles JC; Dermaut, Bart B
Publication Date: 2017-01-23

Variant appearance in text: APP: S305N
PubMed Link: 28112163
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tau Hyperphosphorylation and Oxidative Stress, a Critical Vicious Circle in Neurodegenerative Tauopathies?

Oxidative Medicine And Cellular Longevity
Alavi Naini, Seyedeh Maryam SM; Soussi-Yanicostas, Nadia N
Publication Date: 2015

Variant appearance in text: APP: S305N
PubMed Link: 26576216
Variant Present in the following documents:
  • OMCL2015-151979.pdf
View BVdb publication page



Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations.

Frontiers In Aging Neuroscience
Rossi, Giacomina G; Tagliavini, Fabrizio F
Publication Date: 2015

Variant appearance in text: APP: S305N
PubMed Link: 26528178
Variant Present in the following documents:
  • fnagi-07-00192.pdf
View BVdb publication page



Targeting mRNA for Alzheimer's and related dementias.

Scientifica
Wolfe, Michael S MS
Publication Date: 2014

Variant appearance in text: APP: S305N
PubMed Link: 24876993
Variant Present in the following documents:
  • SCIENTIFICA2014-757549.pdf
View BVdb publication page



The role of tau in neurodegenerative diseases and its potential as a therapeutic target.

Scientifica
Wolfe, Michael S MS
Publication Date: 2012

Variant appearance in text: APP: S305N
PubMed Link: 24278740
Variant Present in the following documents:
  • Main text
  • SCIENTIFICA2012-796024.pdf
View BVdb publication page



A cognitive chameleon: lessons from a novel MAPT mutation case.

Neurocase
Liang, Yuying Y; Gordon, Elizabeth E; Rohrer, Jonathan J; Downey, Laura L; de Silva, Rohan R; Jäger, Hans Rolf HR; Nicholas, Jennifer J; Modat, Marc M; Cardoso, M Jorge MJ; Mahoney, Colin C; Warren, Jason J; Rossor, Martin M; Fox, Nick N; Caine, Diana D
Publication Date: 2014

Variant appearance in text: APP: S305N
PubMed Link: 23998300
Variant Present in the following documents:
  • nncs-20-684.pdf
View BVdb publication page



Fleshing out the amyloid cascade hypothesis: the molecular biology of Alzheimer's disease.

Dialogues In Clinical Neuroscience
Lovestone, S S
Publication Date: 2000-06

Variant appearance in text: APP: S305N
PubMed Link: 22033981
Variant Present in the following documents:
  • DialoguesClinNeurosci-2-101.pdf
View BVdb publication page



Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome.

The Journal Of Biological Chemistry
Shi, Jianhua J; Zhang, Tianyi T; Zhou, Chunlei C; Chohan, Muhammad Omar MO; Gu, Xiaosong X; Wegiel, Jerzy J; Zhou, Jianhua J; Hwang, Yu-Wen YW; Iqbal, Khalid K; Grundke-Iqbal, Inge I; Gong, Cheng-Xin CX; Liu, Fei F
Publication Date: 2008-10-17

Variant appearance in text: APP: S305N
PubMed Link: 18658135
Variant Present in the following documents:
  • Main text
View BVdb publication page



Knock-out and transgenic mouse models of tauopathies.

Neurobiology Of Aging
Denk, Franziska F; Wade-Martins, Richard R
Publication Date: 2009-01

Variant appearance in text: APP: S305N
PubMed Link: 17590238
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-dependent neurofibrillary tangle formation, neuron loss, and memory impairment in a mouse model of human tauopathy (P301L).

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Ramsden, Martin M; Kotilinek, Linda L; Forster, Colleen C; Paulson, Jennifer J; McGowan, Eileen E; SantaCruz, Karen K; Guimaraes, Aaron A; Yue, Mei M; Lewis, Jada J; Carlson, George G; Hutton, Michael M; Ashe, Karen H KH
Publication Date: 2005-11-16

Variant appearance in text: APP: S305N
PubMed Link: 16291936
Variant Present in the following documents:
  • Main text
View BVdb publication page