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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wassermann WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: dobritzsch d. Genet Med. 2024 Feb 24;26(6):101104. doi: 10.1016/j.gim.2024.101104. Online ahead of print. Genet Med. 2024. PMID: 38411040 Free article.
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.
van Kuilenburg ABP, Pleunis-van Empel MCH, Brouwer RB, Sijben AEJ, Knapen DG, Oude Munnink TH, van Zanden JJ, Janssens-Puister J, Dobritzsch D, Meinsma R, Meijer-Jansen J, van Dooren SJM, Vijzelaar R, Pop A, Salomons GS, Maring JG, Niezen-Koning KE. van Kuilenburg ABP, et al. Among authors: dobritzsch d. JCO Precis Oncol. 2024 May;8:e2300599. doi: 10.1200/PO.23.00599. JCO Precis Oncol. 2024. PMID: 38709992
Large-scale phage-based screening reveals extensive pan-viral mimicry of host short linear motifs.
Mihalič F, Simonetti L, Giudice G, Sander MR, Lindqvist R, Peters MBA, Benz C, Kassa E, Badgujar D, Inturi R, Ali M, Krystkowiak I, Sayadi A, Andersson E, Aronsson H, Söderberg O, Dobritzsch D, Petsalaki E, Överby AK, Jemth P, Davey NE, Ivarsson Y. Mihalič F, et al. Among authors: dobritzsch d. Nat Commun. 2023 Apr 26;14(1):2409. doi: 10.1038/s41467-023-38015-5. Nat Commun. 2023. PMID: 37100772 Free PMC article.
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Dobritzsch D, Meijer J, Meinsma R, Maurer D, Monavari AA, Gummesson A, Reims A, Cayuela JA, Kuklina N, Benoist JF, Perrin L, Assmann B, Hoffmann GF, Bierau J, Kaindl AM, van Kuilenburg ABP. Dobritzsch D, et al. Mol Genet Metab. 2022 Jul;136(3):177-185. doi: 10.1016/j.ymgme.2022.01.102. Epub 2022 Feb 1. Mol Genet Metab. 2022. PMID: 35151535 Free article.
91 results