Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ATP1A2: 2192T>C; Met731Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: ATP1A2: 2192T>C; Met731Thr

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: ATP1A2: 2192T>C; M731T

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 3

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Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation.

Case Reports In Neurological Medicine

Martínez, E E; Moreno, R R; López-Mesonero, L L; Vidriales, I I; Ruiz, M M; Guerrero, A L AL; Tellería, J J JJ

Publication Date: 2016

Variant appearance in text: ATP1A2: M731T

PubMed Link: 27818813

Variant Present in the following documents:

• Main text
• CRINM2016-3464285.pdf

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ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease.

Frontiers In Physiology

Friedrich, Thomas T; Tavraz, Neslihan N NN; Junghans, Cornelia C

Publication Date: 2016

Variant appearance in text: FHM2: M731T

PubMed Link: 27445835

Variant Present in the following documents:

• Main text
• fphys-07-00239.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: FHM2: M731T; rs28933400

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ATP1A2: M731T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models.

Human Genomics

Gritz, Stephanie M SM; Radcliffe, Richard A RA

Publication Date: 2013-04-05

Variant appearance in text: ATP1A2: M731T

PubMed Link: 23561701

Variant Present in the following documents:

• Main text
• 1479-7364-7-8.pdf

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Expression of mutant α1 Na/K-ATPase defective in conformational transition attenuates Src-mediated signal transduction.

The Journal Of Biological Chemistry

Ye, Qiqi Q; Lai, Fangfang F; Banerjee, Moumita M; Duan, Qiming Q; Li, Zhichuan Z; Si, Shuyi S; Xie, Zijian Z

Publication Date: 2013-02-22

Variant appearance in text: FHM2: M731T

PubMed Link: 23288841

Variant Present in the following documents:

• Main text

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Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2).

The Journal Of Headache And Pain

Barros, José J; Mendes, Alexandre A; Matos, Ilda I; Pereira-Monteiro, José J

Publication Date: 2012-10

Variant appearance in text: ATP1A2: M731T

PubMed Link: 22661290

Variant Present in the following documents:

• Main text
• 10194_2012_Article_462.pdf

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Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.

The Journal Of Biological Chemistry

Schack, Vivien Rodacker VR; Holm, Rikke R; Vilsen, Bente B

Publication Date: 2012-01-13

Variant appearance in text: FHM2: M731T

PubMed Link: 22117059

Variant Present in the following documents:

• Main text

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Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.

Human Genetics

Ashmore, Lesley J LJ; Hrizo, Stacy L SL; Paul, Sarah M SM; Van Voorhies, Wayne A WA; Beitel, Greg J GJ; Palladino, Michael J MJ

Publication Date: 2009-09

Variant appearance in text: ATP1A2: M731T

PubMed Link: 19455355

Variant Present in the following documents:

• 439_2009_Article_673.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: ATP1A2: M731T

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.

The Journal Of Biological Chemistry

Tavraz, Neslihan N NN; Friedrich, Thomas T; Dürr, Katharina L KL; Koenderink, Jan B JB; Bamberg, Ernst E; Freilinger, Tobias T; Dichgans, Martin M

Publication Date: 2008-11-07

Variant appearance in text: ATP1A2: M731T

PubMed Link: 18728015

Variant Present in the following documents:

• Main text

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The 59th Symposium of the Society of General Physiologists. Na,K-ATPase and related cation pumps: structures, mechanisms, and diseases.

The Journal Of General Physiology

Publication Date: 2006-02

Variant appearance in text: FHM2: M731T

PubMed Link: 16446500

Variant Present in the following documents:

• Main text
• jgp1270077.pdf

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Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Segall, Laura L; Mezzetti, Alessandra A; Scanzano, Rosemarie R; Gargus, J Jay JJ; Purisima, Enrico E; Blostein, Rhoda R

Publication Date: 2005-08-02

Variant appearance in text: FHM2: M731T

PubMed Link: 16037212

Variant Present in the following documents:

• Main text

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