Found: 2

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  • Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
    By:
    • Coelho, David;
    • Kim, Jaeseung C;
    • Miousse, Isabelle R;
    • Fung, Stephen;
    • du Moulin, Marcel;
    • Buers, Insa;
    • Suormala, Terttu;
    • Burda, Patricie;
    • Frapolli, Michele;
    • Stucki, Martin;
    • Nürnberg, Peter;
    • Thiele, Holger;
    • Robenek, Horst;
    • Höhne, Wolfgang;
    • Longo, Nicola;
    • Pasquali, Marzia;
    • Mengel, Eugen;
    • Watkins, David;
    • Shoubridge, Eric A;
    • Majewski, Jacek
    Publication type:
    Article

  • Sirtuin 6 is required for the integrated stress response and resistance to inhibition of transcriptional cyclin-dependent kinases.

    Published in:
    Science Translational Medicine, 2023, v. 15, n. 694, p. 1, doi. 10.1126/scitranslmed.abn9674
    By:
    • Kartha, Nithya;
    • Gianopulos, Jessica E.;
    • Schrank, Zachary;
    • Cavender, Sarah M.;
    • Dobersch, Stephanie;
    • Kynnap, Bryan D.;
    • Wallace-Povirk, Adrianne;
    • Wladyka, Cynthia L.;
    • Santana, Juan F.;
    • Kim, Jaeseung C.;
    • Yu, Angela;
    • Bridgwater, Caroline M.;
    • Fuchs, Kathrin;
    • Dysinger, Sarah;
    • Lampano, Aaron E.;
    • Notta, Faiyaz;
    • Price, David H.;
    • Hsieh, Andrew C.;
    • Hingorani, Sunil R.;
    • Kugel, Sita
    Publication type:
    Article