Publications:

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The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.

Cell Death & Disease

Vallese, Francesca F; Maso, Lorenzo L; Giamogante, Flavia F; Poggio, Elena E; Barazzuol, Lucia L; Salmaso, Andrea A; Lopreiato, Raffaele R; Cendron, Laura L; Navazio, Lorella L; Zanni, Ginevra G; Weber, Yvonne Y; Kovacevic-Preradovic, Tatjana T; Keren, Boris B; Torraco, Alessandra A; Carrozzo, Rosalba R; Peretto, Francesco F; Peggion, Caterina C; Ferro, Stefania S; Marin, Oriano O; Zanotti, Giuseppe G; Calì, Tito T; Brini, Marisa M; Carafoli, Ernesto E

Publication Date: 2022-10-07

Variant appearance in text: SLC2A1: R269C

PubMed Link: 36207321

Variant Present in the following documents:

• Main text
• 41419_2022_Article_5300.pdf

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The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

Clinical Genetics

Sánchez-Lijarcio, Obdulia O; Yubero, Delia D; Leal, Fátima F; Couce, María L ML; González Gutiérrez-Solana, Luis L; López-Laso, Eduardo E; García-Cazorla, Àngels À; Pías-Peleteiro, Leticia L; de Azua Brea, Begoña B; Ibáñez-Micó, Salvador S; Mateo-Martínez, Gonzalo G; Troncoso-Schifferli, Monica M; Witting-Enriquez, Scarlet S; Ugarte, Magdalena M; Artuch, Rafael R; Pérez, Belén B

Publication Date: 2022-07

Variant appearance in text: SLC2A1: 805C>T

PubMed Link: 35388452

Variant Present in the following documents:

• Main text
• CGE-102-40.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SLC2A1: R269C; rs200247956

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

Movement Disorders Clinical Practice

Gustavsson, Emil K EK; Trinh, Joanne J; McKenzie, Marna M; Bortnick, Stephanie S; Petersen, Maria Skaalum MS; Farrer, Matthew J MJ; Aasly, Jan O JO

Publication Date: 2017

Variant appearance in text: SLC2A1: 805C>T; rs200247956

PubMed Link: 30363439

Variant Present in the following documents:

• Main text

View BVdb publication page

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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Scientific Reports

Vidal, Silvia S; Brandi, Núria N; Pacheco, Paola P; Gerotina, Edgar E; Blasco, Laura L; Trotta, Jean-Rémi JR; Derdak, Sophia S; Del Mar O'Callaghan, Maria M; Garcia-Cazorla, Àngels À; Pineda, Mercè M; Armstrong, Judith J; ,

Publication Date: 2017-09-25

Variant appearance in text: SLC2A1: 805C>T; Arg269Cys; rs200247956

PubMed Link: 28947817

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11620.pdf

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SLC2A1: 805C>T; Arg269Cys

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

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