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Early steps in autophagy depend on direct phosphorylation of Atg9 by the Atg1 kinase.
Papinski D, Schuschnig M, Reiter W, Wilhelm L, Barnes CA, Maiolica A, Hansmann I, Pfaffenwimmer T, Kijanska M, Stoffel I, Lee SS, Brezovich A, Lou JH, Turk BE, Aebersold R, Ammerer G, Peter M, Kraft C. Papinski D, et al. Among authors: hansmann i. Mol Cell. 2014 Feb 6;53(3):471-83. doi: 10.1016/j.molcel.2013.12.011. Epub 2014 Jan 16. Mol Cell. 2014. PMID: 24440502 Free PMC article.
Binding of the Atg1/ULK1 kinase to the ubiquitin-like protein Atg8 regulates autophagy.
Kraft C, Kijanska M, Kalie E, Siergiejuk E, Lee SS, Semplicio G, Stoffel I, Brezovich A, Verma M, Hansmann I, Ammerer G, Hofmann K, Tooze S, Peter M. Kraft C, et al. Among authors: hansmann i. EMBO J. 2012 Sep 12;31(18):3691-703. doi: 10.1038/emboj.2012.225. Epub 2012 Aug 10. EMBO J. 2012. PMID: 22885598 Free PMC article.
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.
Ezgu F, Krejci P, Li S, de Sousa C, Graham JM Jr, Hansmann I, He W, Porpora K, Wand D, Wertelecki W, Schneider A, Wilcox WR. Ezgu F, et al. Among authors: hansmann i. Clin Genet. 2014 Jul;86(1):74-84. doi: 10.1111/cge.12230. Epub 2013 Jul 30. Clin Genet. 2014. PMID: 23829326
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. Lalani SR, et al. Among authors: hansmann i. J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23. J Med Genet. 2009. PMID: 18812404 Free PMC article.
Gene symbol: JAG1. Disease: tetralogy of Fallot.
Glaeser C, Kotzot D, Caliebe A, Kottke R, Schulz S, Schweigmann U, Hansmann I. Glaeser C, et al. Among authors: hansmann i. Hum Genet. 2006 Jul;119(6):674. Hum Genet. 2006. PMID: 17128462 No abstract available.
A family case of fertile human 45,X,psu dic(15;Y) males.
Wimmer R, Schempp W, Gopinath PM, Nagarajappa CS, Chandra N, Palaniappan I, Hansmann I. Wimmer R, et al. Among authors: hansmann i. Cytogenet Genome Res. 2006;115(1):94-8. doi: 10.1159/000094806. Cytogenet Genome Res. 2006. PMID: 16974089
144 results