Human Genetics

You-Hai Xu, PhD

Title

Head, Molecular Diagnostics

Appointment

Assistant Professor, Research, University of Cincinnati College of Medicine

Email

you-hai.xu@chmcc.org

Phone

513-636-4542

Fax

513-636-4373

Bio

You-Hai Xu, PhD, is interested in the regulation of gene expression at translation level. Dr. Xu is studying the cellular effect on transgene expression in mammalian system, especially the enzyme (human acid -glucosidase) deficient ex vivo/in vivo system (Gaucher disease). He is also studying translational control mechanism of protein synthesis and associated cellular functions.

Credentials

PhD: Shanghai Institute of Cell Biology, Shanghai, China 1987.

Research

Research interest in translational control of protein synthesis

Publications, Most Recent

You-Hai Xu, Rachel Reboulet, Brian Quinn, Joerg Huelsken, David Witte and Gregory A. Grabowski (2008) Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid -glucosidase residual activity levels. Accepted by Mol Genet. Met.

Ying Sun, You-Hai Xu, and Gregory A. Grabowski. Gaucher Disease. A.H. Futerman and A. Zimran. Taylor & Francis Group Inc. CRC Press: 141-153, 2006.

Ying Sun, Brian Quinn, You-Hai Xu, Tatyana Leonova, David, P. Witte and Gregory A. Grabowski. Conditional Expression of Human Acid β-Glucosidase (GCase) in Liver Improves the Visceral Phenotype in a Gaucher Disease Variant Mouse Model. J Lipid Res. 47:2161-2170, 2006.

Professional Organization Memberships

American Society of Human Genetics

Abstracts

S Clark, Y Sun, YH Xu, GA Grabowski, and B Wustman. A biological link between Gaucher and Parkinson’s disease and a potential new approach to treating synucleinopathies: a pharmacological chaperone for -glucocerebrosidase prevents accumulation of -synuclein in a Parkinson’s mouse model. Presented at the 37th annual meeting of Society for Neurosciences. San Diego, CA, November 3-7, 2007.

YH Xu, Y Sun, R Reboulet, H Ran, B Quinn, S Clark, B Wustman and GA Grabowski Accumulation of -synuclein and ubiquitin in Gaucher disease mouse models. Presented at the annual meeting of American Society of Human Genetics. San Diego, CA, October 23-27, 2007.

Y-H. Xu, R. Reboulet, B. Quinn, J. Huelsken, and G.A. Grabowski. Progressive CNS lesions in (GCase) null with skin rescued mice and conduritol B epoxide injected Gaucher mice. Presented at the annual meeting of American Society of Human Genetics. New Orleans, Louisiana, October 10-14, 2006.