Fabry Disease - Molecular and Model Therapeutic Studies

Desnick, Robert J.

Abstract

The purpose of this study is to use the recently cloned gene for x-galacto-sidase A to study Fabry disease at the molecular level. Efforts will be directed to identify the different disease gene mutations and to use molecular biologic techniques to produce large amounts of the enzyme for evaluation of enzyme replacement therapy.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Center for Research Resources (NCRR)
• Type: General Clinical Research Centers Program (M01)
• Project #: 5M01RR000071-29
• Application #: 3849024
• Support Year: 29
• Fiscal Year: 1992

Institution

• Name: Mount Sinai School of Medicine
• City: New York
• State: NY
• Country: United States
• Zip Code: 10029

Publications

Grams, Morgan E; Sang, Yingying; Ballew, Shoshana H et al. (2018) Predicting timing of clinical outcomes in patients with chronic kidney disease and severely decreased glomerular filtration rate. Kidney Int 93:1442-1451

Kattan, Meyer; Bacharier, Leonard B; O'Connor, George T et al. (2018) Spirometry and Impulse Oscillometry in Preschool Children: Acceptability and Relationship to Maternal Smoking in Pregnancy. J Allergy Clin Immunol Pract 6:1596-1603.e6

Coplan, Jeremy D; Webler, Ryan; Gopinath, Srinath et al. (2018) Neurobiology of the dorsolateral prefrontal cortex in GAD: Aberrant neurometabolic correlation to hippocampus and relationship to anxiety sensitivity and IQ. J Affect Disord 229:1-13

Altman, Matthew C; Whalen, Elizabeth; Togias, Alkis et al. (2018) Allergen-induced activation of natural killer cells represents an early-life immune response in the development of allergic asthma. J Allergy Clin Immunol 142:1856-1866

Juraschek, Stephen P; Miller 3rd, Edgar R; Appel, Lawrence J (2018) Orthostatic Hypotension and Symptoms in the AASK Trial. Am J Hypertens 31:665-671

Sheffield, Perry E; Uijttewaal, Simone A M; Stewart, James et al. (2017) Climate Change and Schools: Environmental Hazards and Resiliency. Int J Environ Res Public Health 14:

Juraschek, Stephen P; Appel, Lawrence J; Miller 3rd, Edgar R (2017) Metoprolol Increases Uric Acid and Risk of Gout in African Americans With Chronic Kidney Disease Attributed to Hypertension. Am J Hypertens 30:871-875

Chen, Teresa K; Tin, Adrienne; Peralta, Carmen A et al. (2017) APOL1 Risk Variants, Incident Proteinuria, and Subsequent eGFR Decline in Blacks with Hypertension-Attributed CKD. Clin J Am Soc Nephrol 12:1771-1777

Ramratnam, Sima K; Visness, Cynthia M; Jaffee, Katy F et al. (2017) Relationships among Maternal Stress and Depression, Type 2 Responses, and Recurrent Wheezing at Age 3 Years in Low-Income Urban Families. Am J Respir Crit Care Med 195:674-681

Chen, Teresa K; Appel, Lawrence J; Grams, Morgan E et al. (2017) APOL1 Risk Variants and Cardiovascular Disease: Results From the AASK (African American Study of Kidney Disease and Hypertension). Arterioscler Thromb Vasc Biol 37:1765-1769