Ausgewählte Publikationen:

Marchini A., Daeffler L., Martilla T., Schneider K. U., Blaschke R. J., Schnölzer M., Rommelaere J. and Rappold G. (2006). Phosphorylation on serine 106 modulates the cellular functions of the SHOX homeodomain protein. J. Mol. Biol. 355: 590-603.

Schneider K. U., Marchini A., Sabherwal N., Röth R., Niesler B., Marttila T., Blaschke R. J. and Rappold G. (2005). Alteration of DNA binding, dimerisation and nuclear translocation of SHOX homeodomain mutations as a cause for idiopathic short stature and Leri-Weill dyschondrosteosis. Hum. Mutat. 26: 44-52.

Accardi R., Oxelmark E., Jauniaux N., de Pinto V., Marchini A., Tommasino M. (2004). High levels of the mitochondrial large ribosomal subunit protein 40 prevent loss of mitochondrial DNA in null mmf1 Saccharomyces cerevisiae cells. Yeast 21: 539-48.

Marchini A., Marttila T., Winter A.., Caldeira S., Malanchi I., Blaschke R. J., Häcker B., Rao E., Karperien M., Wit J. M., Richter W., Tommasino M. and Rappold G. (2004). The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. J. Biol. Chem. 279, 37103-14.

Sabherwal N., Blaschke R. J., Marchini A., Heine-Suner D., Rosell J., Ferragut J., Blum W., and. Rappold G. A. (2004). A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia. J. Cell Sci. 117: 3041-3048.

Sabherwal N., Schneider K. U., Blaschke R. J., Marchini A. and Rappold G. (2004). Impairment of SHOX Nuclear Localization as a cause for Léri-Weill syndrome. J. Med. Genet. 41: e83.

Blaschke R. J., Töpfer C., Marchini A., Steinbeisser H., Janssen J. W.G. and Rappold G. A. (2003). Léri-Weill and Turner Syndrome: Regulation of the Homeobox Gene SHOX on the Transcriptional and Translational Level. J. Biol. Chem. 278: 47820-47826.

Marchini A., Accardi R., Malanchi I., Schyr E., Oxelmark E., De Pinto V., Jauniaux J. C., Maundrell K. and Tommasino M. (2002). The Schizosaccharomyces pombe Pmf1p is a mitochondrial protein and is structurally and functionally related to Mmf1p of Saccharomyces cerevisiae. Yeast 19: 703-711.

Rao E., Blaschke R. J., Marchini A., Niesler B., Burnett M. and Rappold G. A. (2001). The Leri Weill and Turner-Syndrome homeobox gene SHOX encodes a cell-type specific transcription activator. Hum. Mol. Genet. 10: 3083-91.

Oxelmark E., Marchini A., Malanchi I., Magherini F., Jaquet L., Hajibagheri M. A. N., Blight K. J., Jauniaux J. C. and Tommasino M. (2000). Mmf1p, a Novel Yeast Mitochondrial Protein Conserved throughout Evolution and Involved in Maintenance of the Mitochondrial Genome. Mol. Cell. Biol. 20: 7784-7797.

Braspenning J., Marchini A.*, Albarani V., Levy L., Ciccolini F., Cremonesi C., Ralston R., Gissmann L. and Tommasino M. (1998). The CXXC Zn binding motifs of the human papillomavirus type 16E7 oncoprotein are not required for its in vitro transforming activity in rodent cells Oncogene 16: 1085-1089.
*The first two authors have equally contributed to this work


Rappold G. A., Schneider K., Sabherwal N., Marchini A., Blaschke R. and Roeth R. (2004). SHOX mutations in growth disorders. Monduzzi Editore International Proceedings Divisions, Bologna, Italy. In press.

Blaschke R. J., Marchini A., Haecker B., Ross J. L., Blum W. F. and Rappold G. A. (2003). SHOX Disorders. Encyclopedia of Endocrine Diseases: 256-260.

Zehbe I., Ciccolini F., Dell’ Orco M., De Pasquale C., Zaccaro F., Albarani V., Marchini A., Kanduc D. and Tommasino M. (1998). E7 protein of human papillomavirus and its interaction with cellular pathways Cell Growth and Oncogenesis. P. Bannasch, D. Kanduc, S. Papa and J.M. Tager (eds) Birkhauser Verlag: 97-107.

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