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ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing.
Imle R, Wang BT, Stützenberger N, Birkenhagen J, Tandon A, Carl M, Himmelreich N, Thiel C, Gröne HJ, Poschet G, Völkers M, Gülow K, Schröder A, Carillo S, Mittermayr S, Bones J, Kamiński MM, Kölker S, Sauer SW. Imle R, et al. Among authors: carl m. Sci Rep. 2019 Oct 3;9(1):14248. doi: 10.1038/s41598-019-50566-6. Sci Rep. 2019. PMID: 31582762 Free PMC article.
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Dimitrov B, et al. Among authors: carl m. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028
RAB8B is required for activity and caveolar endocytosis of LRP6.
Demir K, Kirsch N, Beretta CA, Erdmann G, Ingelfinger D, Moro E, Argenton F, Carl M, Niehrs C, Boutros M. Demir K, et al. Among authors: carl m. Cell Rep. 2013 Sep 26;4(6):1224-34. doi: 10.1016/j.celrep.2013.08.008. Epub 2013 Sep 12. Cell Rep. 2013. PMID: 24035388 Free article.
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C. Kopajtich R, et al. Among authors: carl m. Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14. Am J Hum Genet. 2016. PMID: 27426735 Free PMC article.
Divergent Wnt8a gene expression in teleosts.
Mwafi N, Beretta CA, Paolini A, Carl M. Mwafi N, et al. Among authors: carl m. PLoS One. 2014 Jan 20;9(1):e85303. doi: 10.1371/journal.pone.0085303. eCollection 2014. PLoS One. 2014. PMID: 24465531 Free PMC article.
221 results