555 S 18Th St STE 5C, Columbus 43205 Nationwide Children's Hospital General 700 Childrens Dr, Columbus 43205 Nationwide Children's Hospital 700 Dr Children's, Columbus 43205
Education:
Medical School Duke University School Of Medicine Graduated: 1981 Baylor College Of Med Graduated: 1985 Graduated: 1988
Materials And Methods Relating To Cholesterol Biosynthesis Enzymes
US Patent:
2004016, Aug 26, 2004
Filed:
Oct 14, 2003
Appl. No.:
10/684978
Inventors:
Gail Herman - Columbus OH, US Richard Kelley - Strafford PA, US Dorothy Grange - St. Louis MO, US
Assignee:
CHILDREN'S HOSPITAL INC - Columbus OH
International Classification:
C12Q001/00, G01N033/92
US Classification:
435/004000, 436/071000
Abstract:
The present invention relates to the identification of the NSDHL gene product as a 3-HSD participating in the conversion of 4,4-dimethylcholest-8(9)-en-3-ol to cholest-8(9)-en-3-ol in the cholesterol and vitamin D biosynthetic pathway. Based upon this function the present invention contemplates methods for manipulating the biosynthetic pathway at the step of involvement of NSDHL to increase or decrease the levels of cholesterol and/or vitamin D (or downstream products such as steroids) produced by a cell. Also contemplated are methods for manipulating the accumulation of intermediate compounds upstream of the step of NSDHL in the pathway. Diagnostic methods involving identification of mutations in the genes encoding enzymes involved in the conversion of 4,4-dimethylcholest-8(9)-en-3-ol to cholest-8(9)-en-3-ol are also provided, as well as diagnostic methods involving detection of abnormal accumulation of sterol intermediates prior to generation of choles-8(9)-en-3-ol in the pathway.
Materials And Methods Relating To Cholesterol Biosynthesis Enzymes
US Patent:
2002017, Nov 21, 2002
Filed:
Sep 5, 2001
Appl. No.:
09/946406
Inventors:
Gail Herman - Columbus OH, US Richard Kelley - Strafford PA, US Dorothy Grange - St. Louis MO, US
Assignee:
Children's Hospital, Inc.
International Classification:
C12Q001/68, C12Q001/60
US Classification:
435/006000, 435/011000
Abstract:
The present invention relates to the identification of the NSDHL gene product as a 3-HSD participating in the conversion of 4,4-dimethylcholest-8(9)-en-3-ol to cholest-8(9)-en-3-ol in the cholesterol and vitamin D biosynthetic pathway. Based upon this function the present invention contemplates methods for manipulating the biosynthetic pathway at the step of involvement of NSDHL to increase or decrease the levels of cholesterol and/or vitamin D (or downstream products such as steroids) produced by a cell. Also contemplated are methods for manipulating the accumulation of intermediate compounds upstream of the step of NSDHL in the pathway. Diagnostic methods involving identification of mutations in the genes encoding enzymes involved in the conversion of 4,4-dimethylcholest-8(9)-en-3-ol to cholest-8(9)-en-3-ol are also provided, as well as diagnostic methods involving detection of abnormal accumulation of sterol intermediates prior to generation of choles-8(9)-en-3-ol in the pathway.