Abstract

Patients with Smith-Lemli-Opitz syndrome have a cholesterol deficiency because there is a block in the synthesis of cholesterol. Clinically, they have microcephaly, mental retardation and hypotonicity, along with very low plasma cholesterol levels and high concentrations of 7-dehydrocholesterol. the studies involve feeding dietary cholesterol to alleviate the deficiency and to block biosynthesis of 7-dehydrocholesterol. Cholesterol absorption, the sterol balance and turnover, bile acid synthesis and turnover will all be measured under conditions of cholesterol-free and high cholesterol diets.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000334-30
Application #
5220298
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
30
Fiscal Year
1996
Total Cost
Indirect Cost

  Publications

Brenowitz, Willa D; Keene, C Dirk; Hawes, Stephen E et al. (2017) Alzheimer's disease neuropathologic change, Lewy body disease, and vascular brain injury in clinic- and community-based samples. Neurobiol Aging 53:83-92
Brenowitz, Willa D; Hubbard, Rebecca A; Keene, C Dirk et al. (2017) Mixed neuropathologies and estimated rates of clinical progression in a large autopsy sample. Alzheimers Dement 13:654-662
Bergstrom, Colin P; Ruffell, Brian; Ho, Christine M T et al. (2017) Docetaxel and mitoxantrone before radical prostatectomy in men with high-risk prostate cancer: 10-year follow-up and immune correlates. Anticancer Drugs 28:120-126
Narayanan, Kumar; Uy-Evanado, Audrey; Teodorescu, Carmen et al. (2016) Mitral valve prolapse and sudden cardiac arrest in the community. Heart Rhythm 13:498-503
Abner, Erin L; Nelson, Peter T; Kryscio, Richard J et al. (2016) Diabetes is associated with cerebrovascular but not Alzheimer's disease neuropathology. Alzheimers Dement 12:882-9
Sylwester, Andrew; Nambiar, Kate Z; Caserta, Stefano et al. (2016) A new perspective of the structural complexity of HCMV-specific T-cell responses. Mech Ageing Dev 158:14-22
Elliot, Diane; Garg, Bharti; Kuehl, Kerry et al. (2015) Why Are Women Law Enforcement Officers More Burned-Out and What Might Help Them? Occup Med Health Aff 3:
Samuels, Mary H (2014) Psychiatric and cognitive manifestations of hypothyroidism. Curr Opin Endocrinol Diabetes Obes 21:377-83
Redig, Jennifer K; Fouad, Gameil T; Babcock, Darcie et al. (2014) Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects. AIMS Genet 1:1-19
Lee, David S H; Markwardt, Sheila; Goeres, Leah et al. (2014) Statins and physical activity in older men: the osteoporotic fractures in men study. JAMA Intern Med 174:1263-70

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