ATM c.1447_1448delinsTA ;(p.L483Y)

Variant ID: 11-108121639-CT-TA

NM_000051.3(ATM):c.1447_1448delinsTA;(p.L483Y)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Cryo-EM structures of the ionotropic glutamate receptor GluD1 reveal a non-swapped architecture.

Nature Structural & Molecular Biology
Burada, Ananth Prasad AP; Vinnakota, Rajesh R; Kumar, Janesh J
Publication Date: 2020-01

Variant appearance in text: ATD: L483Y
PubMed Link: 31925409
Variant Present in the following documents:
  • Main text
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Mechanism of modulation of AMPA receptors by TARP-γ8.

The Journal Of General Physiology
Carrillo, Elisa E; Shaikh, Sana A SA; Berka, Vladimir V; Durham, Ryan J RJ; Litwin, Douglas B DB; Lee, Garam G; MacLean, David M DM; Nowak, Linda M LM; Jayaraman, Vasanthi V
Publication Date: 2020-01-06

Variant appearance in text: ATD: L483Y
PubMed Link: 31748249
Variant Present in the following documents:
  • Main text
  • JGP_201912451.pdf
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7-Phenoxy-Substituted 3,4-Dihydro-2H-1,2,4-benzothiadiazine 1,1-Dioxides as Positive Allosteric Modulators of α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) Receptors with Nanomolar Potency.

Journal Of Medicinal Chemistry
Goffin, Eric E; Drapier, Thomas T; Larsen, Anja Probst AP; Geubelle, Pierre P; Ptak, Christopher P CP; Laulumaa, Saara S; Rovinskaja, Karoline K; Gilissen, Julie J; Tullio, Pascal de P; Olsen, Lars L; Frydenvang, Karla K; Pirotte, Bernard B; Hanson, Julien J; Oswald, Robert E RE; Kastrup, Jette Sandholm JS; Francotte, Pierre P
Publication Date: 2018-01-11

Variant appearance in text: ATD: L483Y
PubMed Link: 29256599
Variant Present in the following documents:
  • Main text
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Control of AMPA receptor activity by the extracellular loops of auxiliary proteins.

Elife
Riva, Irene I; Eibl, Clarissa C; Volkmer, Rudolf R; Carbone, Anna L AL; Plested, Andrew Jr AJ
Publication Date: 2017-08-30

Variant appearance in text: ATD: L483Y
PubMed Link: 28871958
Variant Present in the following documents:
  • Main text
  • elife-28680.pdf
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Configurational Preference of the Glutamate Receptor Ligand Binding Domain Dimers.

Biophysical Journal
Yonkunas, Michael M; Buddhadev, Maiti M; Flores Canales, Jose C JC; Kurnikova, Maria G MG
Publication Date: 2017-06-06

Variant appearance in text: ATD: L483Y
PubMed Link: 28591602
Variant Present in the following documents:
  • Main text
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The Transmembrane Domain Mediates Tetramerization of α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) Receptors.

The Journal Of Biological Chemistry
Gan, Quan Q; Dai, Jian J; Zhou, Huan-Xiang HX; Wollmuth, Lonnie P LP
Publication Date: 2016-03-18

Variant appearance in text: ATD: L483Y
PubMed Link: 26839312
Variant Present in the following documents:
  • Main text
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AMPA receptor potentiators: from drug design to cognitive enhancement.

Current Opinion In Pharmacology
Partin, Kathryn M KM
Publication Date: 2015-02

Variant appearance in text: ATD: L483Y
PubMed Link: 25462292
Variant Present in the following documents:
  • Main text
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Structure of an agonist-bound ionotropic glutamate receptor.

Science (New York, N.Y.)
Yelshanskaya, Maria V MV; Li, Minfen M; Sobolevsky, Alexander I AI
Publication Date: 2014-08-29

Variant appearance in text: ATD: L483Y
PubMed Link: 25103407
Variant Present in the following documents:
  • Main text
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A conformational intermediate in glutamate receptor activation.

Neuron
Lau, Albert Y AY; Salazar, Héctor H; Blachowicz, Lydia L; Ghisi, Valentina V; Plested, Andrew J R AJ; Roux, Benoît B
Publication Date: 2013-08-07

Variant appearance in text: ATD: L483Y
PubMed Link: 23931998
Variant Present in the following documents:
  • Main text
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Structure and mechanism of glutamate receptor ion channel assembly, activation and modulation.

Current Opinion In Neurobiology
Mayer, Mark L ML
Publication Date: 2011-04

Variant appearance in text: ATD: L483Y
PubMed Link: 21349697
Variant Present in the following documents:
  • Main text
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Glutamate receptor ion channels: structure, regulation, and function.

Pharmacological Reviews
Traynelis, Stephen F SF; Wollmuth, Lonnie P LP; McBain, Chris J CJ; Menniti, Frank S FS; Vance, Katie M KM; Ogden, Kevin K KK; Hansen, Kasper B KB; Yuan, Hongjie H; Myers, Scott J SJ; Dingledine, Ray R
Publication Date: 2010-09

Variant appearance in text: ATD: L483Y
PubMed Link: 20716669
Variant Present in the following documents:
  • Main text
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AMPA receptor ligand binding domain mobility revealed by functional cross linking.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Plested, Andrew J R AJ; Mayer, Mark L ML
Publication Date: 2009-09-23

Variant appearance in text: ATD: L483Y
PubMed Link: 19776277
Variant Present in the following documents:
  • Main text
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