Katherina Walz, Ph.D.
Dr. Walz is a biologist interested in developing and characterizing mouse models for human genetic conditions. Her research is focused in the validation of the genetic cause, the definition of the phenotypic outcomes and the elucidation of the molecular and physiological pathways involved in a certain disease. Moreover, the mouse models generated are utilized to study the putative reversibility or a pharmacological treatment. Right now Dr. Walz's work is focused in syndromes related to gene Copy Number Variation, as Smith-Magenis (SMS) and Potocki-Lupski (PTLS) Syndromes, and kidney diseases as Focal and Segmental Glomerulosclerosis (FSGS).Selected Publications:
- Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski Syndrome. J. Molina, P. Carmona-Mora, J. Chrast, P. M. Krall, C. P. Canales, J. R. Lupski, A. Reymond, K. Walz. Human Molecular Genetics, Aug 15;17(16):2486-95; 2008.
- Rai1 duplication causes physical and behavioral phenotypes in a mouse model for dup(17)(p11.2p11.2). Walz, K, Paylor R, Yan J, Bi W, Lupski JR. Journal of Clinical Investigation, Nov 1;116(11):3035-3041; 2006.
- Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR. Hum Mol Genet. 13(21):2613-24; 2004.
- Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Walz K, Spencer C, Kaasik K, Lee CC, Lupski JR, Paylor R. Hum Mol Genet. 13(4):367-378; 2004.
- COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast. Yan J, Walz K, Nakamura H, Carattini-Rivera S, Zhao Q, Vogel H, Wei N, Justice MJ, Bradley A, Lupski JR. Mol Cell Biol. 23(19):6798-6808; 2003.
- Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. K. Walz, S. Caratini-Rivera, W. Bi, P. Fonseca, D. L. Mansouri, J. Lynch, H. Vogel, J. L. Noebels, A. Bradley, J. R. Lupski. Molecular and Cellular Biology, 23(10):3646-3655; 2003.
- Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Genome Res. 12(5):713-28; 2002