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Page 1
NGLY1 deficiency: a prospective natural history study.
Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ. Tong S, et al. Among authors: mueller wf. Hum Mol Genet. 2023 Sep 5;32(18):2787-2796. doi: 10.1093/hmg/ddad106. Hum Mol Genet. 2023. PMID: 37379343 Free PMC article.
Patient-derived gene and protein expression signatures of NGLY1 deficiency.
Rauscher B, Mueller WF, Clauder-Münster S, Jakob P, Islam MS, Sun H, Ghidelli-Disse S, Boesche M, Bantscheff M, Pflaumer H, Collier P, Haase B, Chen S, Hoffman R, Wang G, Benes V, Drewes G, Snyder M, Steinmetz LM. Rauscher B, et al. Among authors: mueller wf. J Biochem. 2022 Feb 21;171(2):187-199. doi: 10.1093/jb/mvab131. J Biochem. 2022. PMID: 34878535
GlcNAc-Asn is a biomarker for NGLY1 deficiency.
Mueller WF, Zhu L, Tan B, Dwight S, Beahm B, Wilsey M, Wechsler T, Mak J, Cowan T, Pritchett J, Taylor E, Crawford BE. Mueller WF, et al. J Biochem. 2022 Feb 21;171(2):177-186. doi: 10.1093/jb/mvab111. J Biochem. 2022. PMID: 34697629 Free PMC article.
Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Fujihira H, Masahara-Negishi Y, Akimoto Y, Hirayama H, Lee HC, Story BA, Mueller WF, Jakob P, Clauder-Münster S, Steinmetz LM, Radhakrishnan SK, Kawakami H, Kamada Y, Miyoshi E, Yokomizo T, Suzuki T. Fujihira H, et al. Among authors: mueller wf. Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165588. doi: 10.1016/j.bbadis.2019.165588. Epub 2019 Nov 13. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31733337 Free article.
Biological plasticity rescues target activity in CRISPR knock outs.
Smits AH, Ziebell F, Joberty G, Zinn N, Mueller WF, Clauder-Münster S, Eberhard D, Fälth Savitski M, Grandi P, Jakob P, Michon AM, Sun H, Tessmer K, Bürckstümmer T, Bantscheff M, Steinmetz LM, Drewes G, Huber W. Smits AH, et al. Among authors: mueller wf. Nat Methods. 2019 Nov;16(11):1087-1093. doi: 10.1038/s41592-019-0614-5. Epub 2019 Oct 28. Nat Methods. 2019. PMID: 31659326
Evolthon: A community endeavor to evolve lab evolution.
Kaminski Strauss S, Schirman D, Jona G, Brooks AN, Kunjapur AM, Nguyen Ba AN, Flint A, Solt A, Mershin A, Dixit A, Yona AH, Csörgő B, Busby BP, Hennig BP, Pál C, Schraivogel D, Schultz D, Wernick DG, Agashe D, Levi D, Zabezhinsky D, Russ D, Sass E, Tamar E, Herz E, Levy ED, Church GM, Yelin I, Nachman I, Gerst JE, Georgeson JM, Adamala KP, Steinmetz LM, Rübsam M, Ralser M, Klutstein M, Desai MM, Walunjkar N, Yin N, Aharon Hefetz N, Jakimo N, Snitser O, Adini O, Kumar P, Soo Hoo Smith R, Zeidan R, Hazan R, Rak R, Kishony R, Johnson S, Nouriel S, Vonesch SC, Foster S, Dagan T, Wein T, Karydis T, Wannier TM, Stiles T, Olin-Sandoval V, Mueller WF, Bar-On YM, Dahan O, Pilpel Y. Kaminski Strauss S, et al. Among authors: mueller wf. PLoS Biol. 2019 Mar 29;17(3):e3000182. doi: 10.1371/journal.pbio.3000182. eCollection 2019 Mar. PLoS Biol. 2019. PMID: 30925180 Free PMC article.
53 results