Publications:

Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.

The Journal Of Membrane Biology

Raja, Mobeen M; Kinne, Rolf K H RKH

Publication Date: 2020-04

Variant appearance in text: GLUT1: E299K

PubMed Link: 32025761

Variant Present in the following documents:

• Main text
• 232_2020_Article_108.pdf

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New insights into GluT1 mechanics during glucose transfer.

Scientific Reports

Galochkina, Tatiana T; Ng Fuk Chong, Matthieu M; Challali, Lylia L; Abbar, Sonia S; Etchebest, Catherine C

Publication Date: 2019-01-30

Variant appearance in text: GLUT1: E299K

PubMed Link: 30700737

Variant Present in the following documents:

• Main text

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Development of a rapid functional assay that predicts GLUT1 disease severity.

Neurology. Genetics

Zaman, Sasha M SM; Mullen, Saul A SA; Petrovski, Slavé S; Maljevic, Snezana S; Gazina, Elena V EV; Phillips, A Marie AM; Jones, Gabriel Davis GD; Hildebrand, Michael S MS; Damiano, John J; Auvin, Stéphane S; Lerche, Holger H; Weber, Yvonne G YG; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Reid, Christopher A CA; Petrou, Steven S

Publication Date: 2018-12

Variant appearance in text: SLC2A1: E299K

PubMed Link: 30588498

Variant Present in the following documents:

• Main text
• NG2017006528.pdf

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: SLC2A1: E299K; rs148518827

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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