Genomes and Genes
Robert L Nussbaum
Affiliation: University of California
- Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutationIanai Fishbein
1 Department of Medicine, University of California San Francisco, San Francisco, CA 94143, USA
Brain 137:3235-47. 2014..This study demonstrates that heterozygosity for a Gaucher disease-associated mutation in Gba interferes with SNCA degradation and contributes to its accumulation, and exacerbates the phenotype in a mouse model of Parkinson's disease. ..
- 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....
- 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. ..
- 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...
- Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changesYien Ming Kuo
Department of Medicine, University of California San Francisco, San Francisco, CA 94143, USA
Hum Mol Genet 19:1633-50. 2010..The animals also serve as an in vivo system in which to investigate therapies for reversing the neurological dysfunction that target alpha-synuclein toxicity at its earliest stages...
- Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synucleinKen Nakamura
Department of Neurology and Physiology, University of California, San Francisco, California 94158, USA
J Biol Chem 286:20710-26. 2011..Synuclein thus exerts a primary and direct effect on the morphology of an organelle long implicated in the pathogenesis of Parkinson disease...
- 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...