Robert L Nussbaum
Affiliation: University of California
- Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe SyndromeSusan P Bothwell
Department of Medicine, University of California San Francisco School of Medicine, 513 Parnassus Avenue Hse901E, UCSF Box 0794, San Francisco, CA 94143, USA
Mamm Genome 21:458-66. 2010....
- Genetic testing before anticoagulation? A systematic review of pharmacogenetic dosing of warfarinKirsten Neudoerffer Kangelaris
Division of General Internal Medicine, University of California, Box 0131, 533 Parnassus Ave, San Francisco, CA 94143 0131, USA
J Gen Intern Med 24:656-64. 2009..Genotype-guided initial warfarin dosing may reduce over-anticoagulation and serious bleeding compared to a one-dose-fits-all dosing method...
- Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathySusan P Bothwell
University of California San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
J Am Soc Nephrol 22:443-8. 2011..Thus, we created an animal model for OCRL and Dent Disease 2 tubulopathy by humanizing a modifier paralog in mice already carrying the mutant disease gene...
- Transgenic mice expressing S129 phosphorylation mutations in α-synucleinValerie Drews Escobar
Department of Medicine, University of California San Francisco, San Francisco, CA 94143, USA Institute for Human Genetics, University of California San Francisco, San Francisco, CA 94143, USA
Neurosci Lett 563:96-100. 2014..No abnormalities were detected in mice expressing either phosphorylation mutant protein as their only α-synuclein protein. These results suggest the S129A and S129D mutations have no obvious effect on α-synuclein function. ..
- Dent Disease with mutations in OCRL1Richard R Hoopes
Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA
Am J Hum Genet 76:260-7. 2005..It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised...
- GI Endotoxin as an Environmental Trigger in an alpha-Synuclein Transgenic MouseRobert L Nussbaum; Fiscal Year: 2010..By understanding the disease process, we can identify points at which interventions could slow or stop its progression. ..