This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.The overall objective of the proposed research is to elucidate the molecular mechanisms leading to the remarkable phenotypic variability in Gaucher Disease, a prototype inborn error of metabolism. Gaucher disease is due to the deficiency of acid beta-glucosidase, a lysosomal enzyme encoded by the GBA locus. Two hypotheses to be addressed in these investigations include: 1) that polymorphic variations at the GBA locus in conjunction with known disease-related mutations lead to phenotypic variability of GC and to altered expression of mutant enzymes from this locus. 2) The in vivo activity levels of enzymes in inborn errors of metabolism, with GD as a prototype, is a primary determinant of their regional, tissue or cellular pathophysiology.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
2M01RR008084-14
Application #
7607720
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2007-02-15
Project End
2007-11-30
Budget Start
2007-02-15
Budget End
2007-11-30
Support Year
14
Fiscal Year
2007
Total Cost
$11,142
Indirect Cost
Name
Cincinnati Children's Hospital Medical Center
Department
Type
DUNS #
071284913
City
Cincinnati
State
OH
Country
United States
Zip Code
45229
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