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FOXO1-mediated lipid metabolism maintains mammalian embryos in dormancy.
van der Weijden VA, Stötzel M, Iyer DP, Fauler B, Gralinska E, Shahraz M, Meierhofer D, Vingron M, Rulands S, Alexandrov T, Mielke T, Bulut-Karslioglu A. van der Weijden VA, et al. Among authors: meierhofer d. Nat Cell Biol. 2024 Feb;26(2):181-193. doi: 10.1038/s41556-023-01325-3. Epub 2024 Jan 4. Nat Cell Biol. 2024. PMID: 38177284 Free PMC article.
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
Egerer J, Emmerich D, Fischer-Zirnsak B, Chan WL, Meierhofer D, Tuysuz B, Marschner K, Sauer S, Barr FA, Mundlos S, Kornak U. Egerer J, et al. Among authors: meierhofer d. J Invest Dermatol. 2015 Oct;135(10):2368-2376. doi: 10.1038/jid.2015.192. Epub 2015 May 22. J Invest Dermatol. 2015. PMID: 26000619 Free article.
Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.
Mayr JA, Meierhofer D, Zimmermann F, Feichtinger R, Kögler C, Ratschek M, Schmeller N, Sperl W, Kofler B. Mayr JA, et al. Among authors: meierhofer d. Clin Cancer Res. 2008 Apr 15;14(8):2270-5. doi: 10.1158/1078-0432.CCR-07-4131. Clin Cancer Res. 2008. PMID: 18413815
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Knierim E, et al. Among authors: meierhofer d. Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924529 Free PMC article.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Fischer-Zirnsak B, et al. Among authors: meierhofer d. Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27. Am J Hum Genet. 2015. PMID: 26320891 Free PMC article.
Progression of pathology in PINK1-deficient mouse brain from splicing via ubiquitination, ER stress, and mitophagy changes to neuroinflammation.
Torres-Odio S, Key J, Hoepken HH, Canet-Pons J, Valek L, Roller B, Walter M, Morales-Gordo B, Meierhofer D, Harter PN, Mittelbronn M, Tegeder I, Gispert S, Auburger G. Torres-Odio S, et al. Among authors: meierhofer d. J Neuroinflammation. 2017 Aug 2;14(1):154. doi: 10.1186/s12974-017-0928-0. J Neuroinflammation. 2017. PMID: 28768533 Free PMC article.
95 results