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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. Jansen JC, et al. Among authors: holleboom ag. Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833330 Free PMC article.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. Jansen JC, et al. Among authors: holleboom ag. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833332 Free PMC article.
Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.
Larsen LE, van den Boogert MAW, Rios-Ocampo WA, Jansen JC, Conlon D, Chong PLE, Levels JHM, Eilers RE, Sachdev VV, Zelcer N, Raabe T, He M, Hand NJ, Drenth JPH, Rader DJ, Stroes ESG, Lefeber DJ, Jonker JW, Holleboom AG. Larsen LE, et al. Among authors: holleboom ag. Cell Mol Gastroenterol Hepatol. 2022;13(2):583-597. doi: 10.1016/j.jcmgh.2021.09.013. Epub 2021 Oct 7. Cell Mol Gastroenterol Hepatol. 2022. PMID: 34626841 Free PMC article.
Systematic Review with Meta-Analysis: Diagnostic Accuracy of Pro-C3 for Hepatic Fibrosis in Patients with Non-Alcoholic Fatty Liver Disease.
Mak AL, Lee J, van Dijk AM, Vali Y, Aithal GP, Schattenberg JM, Anstee QM, Brosnan MJ, Zafarmand MH, Ramsoekh D, Harrison SA, Nieuwdorp M, Bossuyt PM, Holleboom AG. Mak AL, et al. Among authors: holleboom ag. Biomedicines. 2021 Dec 15;9(12):1920. doi: 10.3390/biomedicines9121920. Biomedicines. 2021. PMID: 34944736 Free PMC article. Review.
Microbiome-derived ethanol in nonalcoholic fatty liver disease.
Meijnikman AS, Davids M, Herrema H, Aydin O, Tremaroli V, Rios-Morales M, Levels H, Bruin S, de Brauw M, Verheij J, Kemper M, Holleboom AG, Tushuizen ME, Schwartz TW, Nielsen J, Brandjes D, Dirinck E, Weyler J, Verrijken A, De Block CEM, Vonghia L, Francque S, Beuers U, Gerdes VEA, Bäckhed F, Groen AK, Nieuwdorp M. Meijnikman AS, et al. Among authors: holleboom ag. Nat Med. 2022 Oct;28(10):2100-2106. doi: 10.1038/s41591-022-02016-6. Epub 2022 Oct 10. Nat Med. 2022. PMID: 36216942
83 results