PC c.1216_1218delinsTGG ;(p.R406W)

Variant ID: 11-66631395-GCG-CCA

NM_001040716.1(PC):c.1216_1218delinsTGG;(p.R406W)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.

Acta Neuropathologica Communications
Davis, Skylar E SE; Cook, Anna K AK; Hall, Justin A JA; Voskobiynyk, Yuliya Y; Carullo, Nancy V NV; Boyle, Nicholas R NR; Hakim, Ahmad R AR; Anderson, Kristian M KM; Hobdy, Kierra P KP; Pugh, Derian A DA; Murchison, Charles F CF; McMeekin, Laura J LJ; Simmons, Micah M; Margolies, Katherine A KA; Cowell, Rita M RM; Nana, Alissa L AL; Spina, Salvatore S; Grinberg, Lea T LT; Miller, Bruce L BL; Seeley, William W WW; Arrant, Andrew E AE
Publication Date: 2023-04-28

Variant appearance in text: PC: R406W
PubMed Link: 37118844
Variant Present in the following documents:
  • 40478_2023_Article_1571.pdf
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Long non-coding RNA SNHG8 drives stress granule formation in tauopathies.

Medrxiv : The Preprint Server For Health Sciences
Bhagat, Reshma R; Minaya, Miguel A MA; Renganathan, Arun A; Mehra, Muneshwar M; Marsh, Jacob J; Martinez, Rita R; Nana, Alissa L AL; Spina, Salvatore S; Seeley, William W WW; Grinberg, Lea T LT; Karch, Celeste M CM
Publication Date: 2023-03-01

Variant appearance in text: PC: R406W
PubMed Link: 36909621
Variant Present in the following documents:
  • nihpp-2023.02.27.23286548v1.pdf
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Exploring discordant low amyloid beta and high neocortical tau positron emission tomography cases.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
Krishnadas, Natasha N; Doré, Vincent V; Laws, Simon M SM; Porter, Tenielle T; Lamb, Fiona F; Bozinovski, Svetlana S; Villemagne, Victor L VL; Rowe, Christopher C CC
Publication Date: 2022

Variant appearance in text: PC: R406W
PubMed Link: 36051174
Variant Present in the following documents:
  • DAD2-14-e12326.pdf
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Single-molecule imaging reveals Tau trapping at nanometer-sized dynamic hot spots near the plasma membrane that persists after microtubule perturbation and cholesterol depletion.

The Embo Journal
Padmanabhan, Pranesh P; Kneynsberg, Andrew A; Cruz, Esteban E; Amor, Rumelo R; Sibarita, Jean-Baptiste JB; Götz, Jürgen J
Publication Date: 2022-10-04

Variant appearance in text: PC: R406W
PubMed Link: 36004506
Variant Present in the following documents:
  • EMBJ-41-e111265.pdf
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Prion-like strain effects in tauopathies.

Cell And Tissue Research
Han, Zhuang Zhuang ZZ; Kang, Sang-Gyun SG; Arce, Luis L; Westaway, David D
Publication Date: 2022-04-23

Variant appearance in text: PC: R406W
PubMed Link: 35460367
Variant Present in the following documents:
  • 441_2022_Article_3620.pdf
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Dissecting the clinical heterogeneity of early-onset Alzheimer's disease.

Molecular Psychiatry
Sirkis, Daniel W DW; Bonham, Luke W LW; Johnson, Taylor P TP; La Joie, Renaud R; Yokoyama, Jennifer S JS
Publication Date: 2022-06

Variant appearance in text: PC: R406W
PubMed Link: 35393555
Variant Present in the following documents:
  • 41380_2022_Article_1531.pdf
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Quantitative transportomics identifies Kif5a as a major regulator of neurodegeneration.

Elife
Shah, Sahil H SH; Schiapparelli, Lucio M LM; Ma, Yuanhui Y; Yokota, Satoshi S; Atkins, Melissa M; Xia, Xin X; Cameron, Evan G EG; Huang, Thanh T; Saturday, Sarah S; Sun, Catalina B CB; Knasel, Cara C; Blackshaw, Seth S; Yates, John R JR; Cline, Hollis T HT; Goldberg, Jeffrey L JL
Publication Date: 2022-03-08

Variant appearance in text: PC: R406W
PubMed Link: 35259089
Variant Present in the following documents:
  • elife-68148.pdf
View BVdb publication page



Tau and Membranes: Interactions That Promote Folding and Condensation.

Frontiers In Cell And Developmental Biology
Sallaberry, Chad A CA; Voss, Barbie J BJ; Majewski, Jaroslaw J; Biernat, Jacek J; Mandelkow, Eckhard E; Chi, Eva Y EY; Vander Zanden, Crystal M CM
Publication Date: 2021

Variant appearance in text: PC: R406W
PubMed Link: 34621743
Variant Present in the following documents:
  • Main text
  • fcell-09-725241.pdf
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Long-Term Hydromethylthionine Treatment Is Associated with Delayed Clinical Onset and Slowing of Cerebral Atrophy in a Pre-Symptomatic P301S MAPT Mutation Carrier.

Journal Of Alzheimer'S Disease : Jad
Bentham, Peter P; Staff, Roger T RT; Schelter, Bjoern O BO; Shiells, Helen H; Harrington, Charles R CR; Wischik, Claude M CM
Publication Date: 2021

Variant appearance in text: PC: R406W
PubMed Link: 34366349
Variant Present in the following documents:
  • jad-83-jad210390.pdf
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Role of the Lipid Membrane and Membrane Proteins in Tau Pathology.

Frontiers In Cell And Developmental Biology
Bok, Eugene E; Leem, Eunju E; Lee, Bo-Ram BR; Lee, Ji Min JM; Yoo, Chang Jae CJ; Lee, Eun Mi EM; Kim, Jaekwang J
Publication Date: 2021

Variant appearance in text: PC: R406W
PubMed Link: 33996814
Variant Present in the following documents:
  • Main text
  • fcell-09-653815.pdf
View BVdb publication page



Biotin rescues mitochondrial dysfunction and neurotoxicity in a tauopathy model.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lohr, Kelly M KM; Frost, Bess B; Scherzer, Clemens C; Feany, Mel B MB
Publication Date: 2020-12-29

Variant appearance in text: PC: R406W
PubMed Link: 33318181
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tau Filament Self-Assembly and Structure: Tau as a Therapeutic Target.

Frontiers In Neurology
Oakley, Sebastian S SS; Maina, Mahmoud B MB; Marshall, Karen E KE; Al-Hilaly, Youssra K YK; Harrington, Charlie R CR; Wischik, Claude M CM; Serpell, Louise C LC
Publication Date: 2020

Variant appearance in text: PC: R406W
PubMed Link: 33281730
Variant Present in the following documents:
  • fneur-11-590754.pdf
View BVdb publication page



Mid to late-life scores of depression in the cognitively healthy are associated with cognitive status and Alzheimer's disease pathology at death.

International Journal Of Geriatric Psychiatry
Robinson, Andrew C AC; Roncaroli, Federico F; Davidson, Yvonne S YS; Minshull, James J; Heal, Calvin C; Montaldi, Daniela D; Payton, Antony A; Horan, Michael A MA; Pendleton, Neil N; Mann, David M A DMA
Publication Date: 2021-05

Variant appearance in text: PC: R406W
PubMed Link: 33176024
Variant Present in the following documents:
  • GPS-36-713.pdf
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P2RX7 inhibitor suppresses exosome secretion and disease phenotype in P301S tau transgenic mice.

Molecular Neurodegeneration
Ruan, Zhi Z; Delpech, Jean-Christophe JC; Venkatesan Kalavai, Srinidhi S; Van Enoo, Alicia A AA; Hu, Jianqiao J; Ikezu, Seiko S; Ikezu, Tsuneya T
Publication Date: 2020-08-18

Variant appearance in text: PC: R406W
PubMed Link: 32811520
Variant Present in the following documents:
  • 13024_2020_Article_396.pdf
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Nicotinamide mononucleotide adenylyltransferase uses its NAD+ substrate-binding site to chaperone phosphorylated Tau.

Elife
Ma, Xiaojuan X; Zhu, Yi Y; Lu, Jinxia J; Xie, Jingfei J; Li, Chong C; Shin, Woo Shik WS; Qiang, Jiali J; Liu, Jiaqi J; Dou, Shuai S; Xiao, Yi Y; Wang, Chuchu C; Jia, Chunyu C; Long, Houfang H; Yang, Juntao J; Fang, Yanshan Y; Jiang, Lin L; Zhang, Yaoyang Y; Zhang, Shengnan S; Zhai, Rong Grace RG; Liu, Cong C; Li, Dan D
Publication Date: 2020-04-06

Variant appearance in text: PC: R406W
PubMed Link: 32250733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pre-clinical characterisation of E2814, a high-affinity antibody targeting the microtubule-binding repeat domain of tau for passive immunotherapy in Alzheimer's disease.

Acta Neuropathologica Communications
Roberts, Malcolm M; Sevastou, Ioanna I; Imaizumi, Yoichi Y; Mistry, Kavita K; Talma, Sonia S; Dey, Madhurima M; Gartlon, Jane J; Ochiai, Hiroshi H; Zhou, Zhi Z; Akasofu, Shigeru S; Tokuhara, Naoki N; Ogo, Makoto M; Aoyama, Muneo M; Aoyagi, Hirofumi H; Strand, Kate K; Sajedi, Ezat E; Agarwala, Kishan Lal KL; Spidel, Jared J; Albone, Earl E; Horie, Kanta K; Staddon, James M JM; de Silva, Rohan R
Publication Date: 2020-02-04

Variant appearance in text: PC: R406W
PubMed Link: 32019610
Variant Present in the following documents:
  • 40478_2020_Article_884.pdf
View BVdb publication page



Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

The Lancet. Neurology
Moore, Katrina M KM; Nicholas, Jennifer J; Grossman, Murray M; McMillan, Corey T CT; Irwin, David J DJ; Massimo, Lauren L; Van Deerlin, Vivianna M VM; Warren, Jason D JD; Fox, Nick C NC; Rossor, Martin N MN; Mead, Simon S; Bocchetta, Martina M; Boeve, Bradley F BF; Knopman, David S DS; Graff-Radford, Neill R NR; Forsberg, Leah K LK; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; van Swieten, John C JC; Jiskoot, Lize C LC; Meeter, Lieke H LH; Dopper, Elise Gp EG; Papma, Janne M JM; Snowden, Julie S JS; Saxon, Jennifer J; Jones, Matthew M; Pickering-Brown, Stuart S; Le Ber, Isabelle I; Camuzat, Agnès A; Brice, Alexis A; Caroppo, Paola P; Ghidoni, Roberta R; Pievani, Michela M; Benussi, Luisa L; Binetti, Giuliano G; Dickerson, Bradford C BC; Lucente, Diane D; Krivensky, Samantha S; Graff, Caroline C; Öijerstedt, Linn L; Fallström, Marie M; Thonberg, Håkan H; Ghoshal, Nupur N; Morris, John C JC; Borroni, Barbara B; Benussi, Alberto A; Padovani, Alessandro A; Galimberti, Daniela D; Scarpini, Elio E; Fumagalli, Giorgio G GG; Mackenzie, Ian R IR; Hsiung, Ging-Yuek R GR; Sengdy, Pheth P; Boxer, Adam L AL; Rosen, Howie H; Taylor, Joanne B JB; Synofzik, Matthis M; Wilke, Carlo C; Sulzer, Patricia P; Hodges, John R JR; Halliday, Glenda G; Kwok, John J; Sanchez-Valle, Raquel R; Lladó, Albert A; Borrego-Ecija, Sergi S; Santana, Isabel I; Almeida, Maria Rosário MR; Tábuas-Pereira, Miguel M; Moreno, Fermin F; Barandiaran, Myriam M; Indakoetxea, Begoña B; Levin, Johannes J; Danek, Adrian A; Rowe, James B JB; Cope, Thomas E TE; Otto, Markus M; Anderl-Straub, Sarah S; de Mendonça, Alexandre A; Maruta, Carolina C; Masellis, Mario M; Black, Sandra E SE; Couratier, Philippe P; Lautrette, Geraldine G; Huey, Edward D ED; Sorbi, Sandro S; Nacmias, Benedetta B; Laforce, Robert R; Tremblay, Marie-Pier L ML; Vandenberghe, Rik R; Damme, Philip Van PV; Rogalski, Emily J EJ; Weintraub, Sandra S; Gerhard, Alexander A; Onyike, Chiadi U CU; Ducharme, Simon S; Papageorgiou, Sokratis G SG; Ng, Adeline Su Lyn ASL; Brodtmann, Amy A; Finger, Elizabeth E; Guerreiro, Rita R; Bras, Jose J; Rohrer, Jonathan D JD; ,
Publication Date: 2020-02

Variant appearance in text: PC: R406W
PubMed Link: 31810826
Variant Present in the following documents:
  • NIHMS1067362-supplement-Supplement.pdf
View BVdb publication page



Introduction of Tau Oligomers into Cortical Neurons Alters Action Potential Dynamics and Disrupts Synaptic Transmission and Plasticity.

Eneuro
Hill, Emily E; Karikari, Thomas K TK; Moffat, Kevin G KG; Richardson, Magnus J E MJE; Wall, Mark J MJ
Publication Date: 2019

Variant appearance in text: PC: R406W
PubMed Link: 31554666
Variant Present in the following documents:
  • ENEURO.0166-19.2019.pdf
View BVdb publication page



Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review.

Alzheimer'S Research & Therapy
Valente, Elizabeth Sakamoto ES; Caramelli, Paulo P; Gambogi, Leandro Boson LB; Mariano, Luciano Inácio LI; Guimarães, Henrique Cerqueira HC; Teixeira, Antônio Lúcio AL; de Souza, Leonardo Cruz LC
Publication Date: 2019-04-01

Variant appearance in text: PC: R406W
PubMed Link: 30935398
Variant Present in the following documents:
  • Main text
View BVdb publication page



18F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes.

Alzheimer'S Research & Therapy
Tsai, Richard M RM; Bejanin, Alexandre A; Lesman-Segev, Orit O; LaJoie, Renaud R; Visani, Adrienne A; Bourakova, Viktoriya V; O'Neil, James P JP; Janabi, Mustafa M; Baker, Suzanne S; Lee, Suzee E SE; Perry, David C DC; Bajorek, Lynn L; Karydas, Anna A; Spina, Salvatore S; Grinberg, Lea T LT; Seeley, William W WW; Ramos, Eliana M EM; Coppola, Giovanni G; Gorno-Tempini, Maria Luisa ML; Miller, Bruce L BL; Rosen, Howard J HJ; Jagust, William W; Boxer, Adam L AL; Rabinovici, Gil D GD
Publication Date: 2019-01-31

Variant appearance in text: PC: R406W
PubMed Link: 30704514
Variant Present in the following documents:
  • Main text
  • 13195_2019_Article_470.pdf
View BVdb publication page



Advances in developing novel therapeutic strategies for Alzheimer's disease.

Molecular Neurodegeneration
Cao, Jiqing J; Hou, Jianwei J; Ping, Jing J; Cai, Dongming D
Publication Date: 2018-12-12

Variant appearance in text: PC: R406W
PubMed Link: 30541602
Variant Present in the following documents:
  • 13024_2018_Article_299.pdf
View BVdb publication page



Amyloidogenic cross-seeding of Tau protein: Transient emergence of structural variants of fibrils.

Plos One
Nizynski, Bartosz B; Nieznanska, Hanna H; Dec, Robert R; Boyko, Solomiia S; Dzwolak, Wojciech W; Nieznanski, Krzysztof K
Publication Date: 2018

Variant appearance in text: PC: R406W
PubMed Link: 30024984
Variant Present in the following documents:
  • pone.0201182.pdf
View BVdb publication page



Large inter- and intra-case variability of first generation tau PET ligand binding in neurodegenerative dementias.

Acta Neuropathologica Communications
Wren, Melissa C MC; Lashley, Tammaryn T; Årstad, Erik E; Sander, Kerstin K
Publication Date: 2018-05-01

Variant appearance in text: PC: R406W
PubMed Link: 29716656
Variant Present in the following documents:
  • 40478_2018_535_MOESM1_ESM.pdf
View BVdb publication page



Tau Filaments and the Development of Positron Emission Tomography Tracers.

Frontiers In Neurology
Goedert, Michel M; Yamaguchi, Yoshiki Y; Mishra, Sushil K SK; Higuchi, Makoto M; Sahara, Naruhiko N
Publication Date: 2018

Variant appearance in text: PC: R406W
PubMed Link: 29497399
Variant Present in the following documents:
  • fneur-09-00070.pdf
View BVdb publication page



Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function.

Journal Of Alzheimer'S Disease & Parkinsonism
Cukier, H N HN; Kunkle, B K BK; Hamilton, K L KL; Rolati, S S; Kohli, M A MA; Whitehead, P L PL; Jaworski, J J; Vance, J M JM; Cuccaro, M L ML; Carney, R M RM; Gilbert, J R JR; Farrer, L A LA; Martin, E R ER; Beecham, G W GW; Haines, J L JL; Pericak-Vance, M A MA
Publication Date: 2017-08

Variant appearance in text: PC: R406W
PubMed Link: 29177109
Variant Present in the following documents:
  • nihms907692.pdf
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Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Plos Genetics
Fernández, Maria Victoria MV; Kim, Jong Hun JH; Budde, John P JP; Black, Kathleen K; Medvedeva, Alexandra A; Saef, Ben B; Deming, Yuetiva Y; Del-Aguila, Jorge J; Ibañez, Laura L; Dube, Umber U; Harari, Oscar O; Norton, Joanne J; Chasse, Rachel R; Morris, John C JC; Goate, Alison A; , ; , ; Cruchaga, Carlos C
Publication Date: 2017-11

Variant appearance in text: PC: Arg406Trp
PubMed Link: 29091718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glial contributions to neurodegeneration in tauopathies.

Molecular Neurodegeneration
Leyns, Cheryl E G CEG; Holtzman, David M DM
Publication Date: 2017-06-29

Variant appearance in text: PC: R406W
PubMed Link: 28662669
Variant Present in the following documents:
  • 13024_2017_Article_192.pdf
View BVdb publication page



Presence of a carboxy-terminal pseudorepeat and disease-like pseudohyperphosphorylation critically influence tau's interaction with microtubules in axon-like processes.

Molecular Biology Of The Cell
Niewidok, Benedikt B; Igaev, Maxim M; Sündermann, Frederik F; Janning, Dennis D; Bakota, Lidia L; Brandt, Roland R
Publication Date: 2016-11-07

Variant appearance in text: PC: R406W
PubMed Link: 27582388
Variant Present in the following documents:
  • 3537.pdf
View BVdb publication page



An autoradiographic evaluation of AV-1451 Tau PET in dementia.

Acta Neuropathologica Communications
Lowe, Val J VJ; Curran, Geoffry G; Fang, Ping P; Liesinger, Amanda M AM; Josephs, Keith A KA; Parisi, Joseph E JE; Kantarci, Kejal K; Boeve, Bradley F BF; Pandey, Mukesh K MK; Bruinsma, Tyler T; Knopman, David S DS; Jones, David T DT; Petrucelli, Leonard L; Cook, Casey N CN; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Petersen, Ronald C RC; Jack, Clifford R CR; Murray, Melissa E ME
Publication Date: 2016-06-13

Variant appearance in text: PC: R406W
PubMed Link: 27296779
Variant Present in the following documents:
  • 40478_2016_Article_315.pdf
View BVdb publication page



Tau Biology and Tau-Directed Therapies for Alzheimer's Disease.

Drugs
Bakota, Lidia L; Brandt, Roland R
Publication Date: 2016-03

Variant appearance in text: PC: R406W
PubMed Link: 26729186
Variant Present in the following documents:
  • 40265_2015_Article_529.pdf
View BVdb publication page



Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging.

Neuropathology And Applied Neurobiology
Ghetti, B B; Oblak, A L AL; Boeve, B F BF; Johnson, K A KA; Dickerson, B C BC; Goedert, M M
Publication Date: 2015-02

Variant appearance in text: PC: R406W
PubMed Link: 25556536
Variant Present in the following documents:
  • nan0041-0024.pdf
View BVdb publication page



Usp14 deficiency increases tau phosphorylation without altering tau degradation or causing tau-dependent deficits.

Plos One
Jin, Youngnam N YN; Chen, Ping-Chung PC; Watson, Jennifer A JA; Walters, Brandon J BJ; Phillips, Scott E SE; Green, Karen K; Schmidt, Robert R; Wilson, Julie A JA; Johnson, Gail V GV; Roberson, Erik D ED; Dobrunz, Lynn E LE; Wilson, Scott M SM
Publication Date: 2012

Variant appearance in text: PC: R406W
PubMed Link: 23144711
Variant Present in the following documents:
  • pone.0047884.pdf
View BVdb publication page



Alzheimer's disease: synapses gone cold.

Molecular Neurodegeneration
Koffie, Robert M RM; Hyman, Bradley T BT; Spires-Jones, Tara L TL
Publication Date: 2011-08-26

Variant appearance in text: PC: R406W
PubMed Link: 21871088
Variant Present in the following documents:
  • 1750-1326-6-63.pdf
View BVdb publication page



Tumor suppressor PTEN affects tau phosphorylation: deficiency in the phosphatase activity of PTEN increases aggregation of an FTDP-17 mutant Tau.

Molecular Neurodegeneration
Zhang, Xue X; Zhang, Yun-wu YW; Liu, Shijie S; Bulloj, Ayelen A; Tong, Gary G GG; Zhang, Zhuohua Z; Liao, Francesca-Fang FF; Xu, Huaxi H
Publication Date: 2006-07-31

Variant appearance in text: PC: R406W
PubMed Link: 16930454
Variant Present in the following documents:
  • 1750-1326-1-7.pdf
View BVdb publication page



Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).

Orphanet Journal Of Rare Diseases
Wszolek, Zbigniew K ZK; Tsuboi, Yoshio Y; Ghetti, Bernardino B; Pickering-Brown, Stuart S; Baba, Yasuhiko Y; Cheshire, William P WP
Publication Date: 2006-08-09

Variant appearance in text: PC: R406W
PubMed Link: 16899117
Variant Present in the following documents:
  • Main text
View BVdb publication page