Abstract

Gaucher disease results from inherited mutations in the gene for the lysosomal enzyme glucocerebrosidase (GC). Patients suffer from hepatosplenomegaly proceeding to hepatic failure, bone deterioration with multiple fractures and in some patients, progressive neurological degeneration. The symptoms in Gaucher disease are a consequence of the accumulation of the lipid substrate for glucocerebrosidase in lysosomes of tissue macrophages. Allogeneic bone marrow transplantation results in the replacement of enzyme deficient by normal ones.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000056-40
Application #
6459676
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2000-12-01
Project End
2001-11-30
Budget Start
Budget End
Support Year
40
Fiscal Year
2001
Total Cost
Indirect Cost

  Institution

Name
University of Pittsburgh
Department
Type
DUNS #
053785812
City
Pittsburgh
State
PA
Country
United States
Zip Code
15213

  Publications

Block, Matthew S; Vierkant, Robert A; Rambau, Peter F et al. (2018) MyD88 and TLR4 Expression in Epithelial Ovarian Cancer. Mayo Clin Proc 93:307-320
Cai, HuaLin; Zhou, Xiang; Dougherty, George G et al. (2018) Pregnenolone-progesterone-allopregnanolone pathway as a potential therapeutic target in first-episode antipsychotic-naïve patients with schizophrenia. Psychoneuroendocrinology 90:43-51
Coen, Paul M; Carnero, Elvis A; Goodpaster, Bret H (2018) Exercise and Bariatric Surgery: An Effective Therapeutic Strategy. Exerc Sport Sci Rev 46:262-270
Lu, Yingchang; Beeghly-Fadiel, Alicia; Wu, Lang et al. (2018) A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk. Cancer Res 78:5419-5430
Chin, Brian; Murphy, Michael L M; Cohen, Sheldon (2018) Age moderates the association between social integration and diurnal cortisol measures. Psychoneuroendocrinology 90:102-109
Hayden, Kathleen M; Baker, Laura D; Bray, George et al. (2018) Long-term impact of intensive lifestyle intervention on cognitive function assessed with the National Institutes of Health Toolbox: The Look AHEAD study. Alzheimers Dement (Amst) 10:41-48
Liu, Gang; Mukherjee, Bhramar; Lee, Seunggeun et al. (2018) Robust Tests for Additive Gene-Environment Interaction in Case-Control Studies Using Gene-Environment Independence. Am J Epidemiol 187:366-377
Bogen, Debra L; Hanusa, Barbara H; Baker, Robyn et al. (2018) Randomized Clinical Trial of Standard- Versus High-Calorie Formula for Methadone-Exposed Infants: A Feasibility Study. Hosp Pediatr 8:7-14
Geskin, Larisa J; Akilov, Oleg E; Kwon, Soonyou et al. (2018) Therapeutic reduction of cell-mediated immunosuppression in mycosis fungoides and Sézary syndrome. Cancer Immunol Immunother 67:423-434
Ong, Jue-Sheng; Hwang, Liang-Dar; Cuellar-Partida, Gabriel et al. (2018) Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study. Int J Epidemiol 47:450-459

Showing the most recent 10 out of 859 publications