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A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Cabrera GM, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Among authors: bommer gt. Cell. 2024 Jul 11;187(14):3784. doi: 10.1016/j.cell.2024.06.004. Epub 2024 Jun 12. Cell. 2024. PMID: 38870945 Free PMC article. No abstract available.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Among authors: bommer gt. Cell. 2024 Jul 11;187(14):3585-3601.e22. doi: 10.1016/j.cell.2024.04.041. Epub 2024 May 30. Cell. 2024. PMID: 38821050 Free PMC article.
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene.
Kentache T, Althoff CR, Caligiore F, Souche E, Schulz C, Graff J, Pieters E, Stanley P, Contessa JN, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT, Wilson MP. Kentache T, et al. Among authors: bommer gt. bioRxiv [Preprint]. 2024 Jun 18:2024.06.18.599300. doi: 10.1101/2024.06.18.599300. bioRxiv. 2024. PMID: 38948797 Free PMC article. Preprint.
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: bommer gt. Hum Mol Genet. 2023 Aug 26;32(17):2717-2734. doi: 10.1093/hmg/ddad100. Hum Mol Genet. 2023. PMID: 37369025 Free PMC article.
Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.
Kentache T, Althoff CR, Caligiore F, Souche E, Schulz C, Graff J, Pieters E, Stanley P, Contessa JN, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT, Wilson MP. Kentache T, et al. Among authors: bommer gt. J Biol Chem. 2024 Oct 10:107875. doi: 10.1016/j.jbc.2024.107875. Online ahead of print. J Biol Chem. 2024. PMID: 39395802 Free article.
ACAD10 and ACAD11 allow entry of 4-hydroxy fatty acids into β-oxidation.
Paquay S, Duraffourd J, Bury M, Heremans IP, Caligiore F, Gerin I, Stroobant V, Jacobs J, Pinon A, Graff J, Vertommen D, Van Schaftingen E, Dewulf JP, Bommer GT. Paquay S, et al. Among authors: bommer gt. Cell Mol Life Sci. 2024 Aug 22;81(1):367. doi: 10.1007/s00018-024-05397-8. Cell Mol Life Sci. 2024. PMID: 39174697 Free PMC article.
50 results