Publications:

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Nutrients

Bölsterli, Bigna K BK; Boltshauser, Eugen E; Palmieri, Luigi L; Spenger, Johannes J; Brunner-Krainz, Michaela M; Distelmaier, Felix F; Freisinger, Peter P; Geis, Tobias T; Gropman, Andrea L AL; Häberle, Johannes J; Hentschel, Julia J; Jeandidier, Bruno B; Karall, Daniela D; Keren, Boris B; Klabunde-Cherwon, Annick A; Konstantopoulou, Vassiliki V; Kottke, Raimund R; Lasorsa, Francesco M FM; Makowski, Christine C; Mignot, Cyril C; O'Gorman Tuura, Ruth R; Porcelli, Vito V; Santer, René R; Sen, Kuntal K; Steinbrücker, Katja K; Syrbe, Steffen S; Wagner, Matias M; Ziegler, Andreas A; Zöggeler, Thomas T; Mayr, Johannes A JA; Prokisch, Holger H; Wortmann, Saskia B SB

Publication Date: 2022-08-31

Variant appearance in text: GOT2: 1009C>G; Arg337Gly

PubMed Link: 36079864

Variant Present in the following documents:

• nutrients-14-03605.pdf

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A Cancer Cell-Intrinsic GOT2-PPARδ Axis Suppresses Antitumor Immunity.

Cancer Discovery

Abrego, Jaime J; Sanford-Crane, Hannah H; Oon, Chet C; Xiao, Xu X; Betts, Courtney B CB; Sun, Duanchen D; Nagarajan, Shanthi S; Diaz, Luis L; Sandborg, Holly H; Bhattacharyya, Sohinee S; Xia, Zheng Z; Coussens, Lisa M LM; Tontonoz, Peter P; Sherman, Mara H MH

Publication Date: 2022-10-05

Variant appearance in text: GOT2: R337G

PubMed Link: 35894778

Variant Present in the following documents:

• Main text
• 2414.pdf

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AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.

International Journal Of Molecular Sciences

Pardo, Beatriz B; Herrada-Soler, Eduardo E; Satrústegui, Jorgina J; Contreras, Laura L; Del Arco, Araceli A

Publication Date: 2022-01-04

Variant appearance in text: GOT2: Arg337Gly

PubMed Link: 35008954

Variant Present in the following documents:

• Main text
• ijms-23-00528.pdf

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AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.

International Journal Of Molecular Sciences

Pardo, Beatriz B; Herrada-Soler, Eduardo E; Satrústegui, Jorgina J; Contreras, Laura L; Del Arco, Araceli A

Publication Date: 2022-01-04

Variant appearance in text: GOT2: Arg337Gly

PubMed Link: 35008954

Variant Present in the following documents:

• Main text
• ijms-23-00528.pdf

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Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

American Journal Of Human Genetics

van Karnebeek, Clara D M CDM; Ramos, Rúben J RJ; Wen, Xiao-Yan XY; Tarailo-Graovac, Maja M; Gleeson, Joseph G JG; Skrypnyk, Cristina C; Brand-Arzamendi, Koroboshka K; Karbassi, Farhad F; Issa, Mahmoud Y MY; van der Lee, Robin R; Drögemöller, Britt I BI; Koster, Janet J; Rousseau, Justine J; Campeau, Philippe M PM; Wang, Youdong Y; Cao, Feng F; Li, Meng M; Ruiter, Jos J; Ciapaite, Jolita J; Kluijtmans, Leo A J LAJ; Willemsen, Michel A A P MAAP; Jans, Judith J JJ; Ross, Colin J CJ; Wintjes, Liesbeth T LT; Rodenburg, Richard J RJ; Huigen, Marleen C D G MCDG; Jia, Zhengping Z; Waterham, Hans R HR; Wasserman, Wyeth W WW; Wanders, Ronald J A RJA; Verhoeven-Duif, Nanda M NM; Zaki, Maha S MS; Wevers, Ron A RA

Publication Date: 2019-09-05

Variant appearance in text: GOT2: 1009C>G; Arg337Gly

PubMed Link: 31422819

Variant Present in the following documents:

• Main text

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