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PubMed (GeneRIF) for id: 84317

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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. 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.
CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille F, Cholet S, Ruel C, Caussé E, Selves J, Bridoux-Henno L, Woimant F, Dupré T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P, Bruneel A. Girard M, et al. Mol Genet Metab. 2018 Jul;124(3):228-235. doi: 10.1016/j.ymgme.2018.05.002. Epub 2018 May 9. Mol Genet Metab. 2018. PMID: 29759592
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. 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.