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PPTC7 maintains mitochondrial protein content by suppressing receptor-mediated mitophagy.
Niemi NM, Serrano LR, Muehlbauer LK, Balnis CE, Wei L, Smith AJ, Kozul KL, Forny M, Connor OM, Rashan EH, Shishkova E, Schueler KL, Keller MP, Attie AD, Friedman JR, Pagan JK, Coon JJ, Pagliarini DJ. Niemi NM, et al. Among authors: forny m. Nat Commun. 2023 Oct 13;14(1):6431. doi: 10.1038/s41467-023-42069-w. Nat Commun. 2023. PMID: 37833277 Free PMC article.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Lucienne M, Gerlini R, Rathkolb B, Calzada-Wack J, Forny P, Wueest S, Kaech A, Traversi F, Forny M, Bürer C, Aguilar-Pimentel A, Irmler M, Beckers J, Sauer S, Kölker S, Dewulf JP, Bommer GT, Hoces D, Gailus-Durner V, Fuchs H, Rozman J, Froese DS, Baumgartner MR, de Angelis MH. Lucienne M, et al. Among authors: forny m. Hum Mol Genet. 2023 Aug 26;32(17):2717-2734. doi: 10.1093/hmg/ddad100. Hum Mol Genet. 2023. PMID: 37369025 Free PMC article.
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi F, Bürer C, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Xenarios I, Aebersold R, Zamboni N, Rätsch G, Dermitzakis ET, Wollscheid B, Baumgartner MR, Froese DS. Forny P, et al. Among authors: forny m. Nat Metab. 2023 Jan;5(1):80-95. doi: 10.1038/s42255-022-00720-8. Epub 2023 Jan 26. Nat Metab. 2023. PMID: 36717752 Free PMC article.
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Kiessling E, Nötzli S, Todorova V, Forny M, Baumgartner MR, Samardzija M, Krijt J, Kožich V, Grimm C, Froese DS. Kiessling E, et al. Among authors: forny m. Biochim Biophys Acta Mol Basis Dis. 2021 Oct 1;1867(10):166201. doi: 10.1016/j.bbadis.2021.166201. Epub 2021 Jun 17. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 34147638 Free article.
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
Lucienne M, Aguilar-Pimentel JA, Amarie OV, Becker L, Calzada-Wack J, da Silva-Buttkus P, Garrett L, Hölter SM, Mayer-Kuckuk P, Rathkolb B, Rozman J, Spielmann N, Treise I, Busch DH, Klopstock T, Schmidt-Weber C, Wolf E, Wurst W, Forny M, Mathis D, Fingerhut R, Froese DS, Gailus-Durner V, Fuchs H, de Angelis MH, Baumgartner MR. Lucienne M, et al. Among authors: forny m. Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165622. doi: 10.1016/j.bbadis.2019.165622. Epub 2019 Nov 23. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31770620 Free article.