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Understanding pathogenesis in CBS deficient homocystinuria

Project Description

Cystathionine β-synthase-deficient homocystinuria (HCU) is a serious life-threatening inborn error of sulfur metabolism with poorly understood pathogenic mechanisms. Untreated or poorly managed HCU, typically results in cognitive impairment; a range of connective tissue disturbances, including Marfanoid skeletal abnormalities; osteoporosis; ectopia lentis; and a dramatically increased incidence of vascular disorders, including atherosclerosis and thromboembolic disease. We have generated a transgenic mouse model of HCU that recapitulates much of the human phenotype and effectively models the human response to treatment. The project uses transcriptomic, metabolomic and proteomic platforms to identify potential pathogenic mechanisms with a view towards the rational design of novel treatments for HCU

Area of Study

Bone or Skeletal; Cardiovascular; Developmental Neuroscience, Brain and Behavior - child; Metabolism and Endocrinology; Neuroscience, Brain and Behavior - Adult; Pharmacology and Physiology




Animal Models; Behavioral; Biomolecular Structure and Biochemistry; Cell Biology, Molecular Biology, and Genetics; Light Microscopy; Nutrition

Disease or Symptom

Aggression-Violence; Bone or Skeletal; Heart Disease; Liver Disease; Mental Illness and Developmental Disabilities



Mentor Location

, RC-1 North, Room 4124,  12800 East 19th Ave,

Mentor Contact Number

303 724 3818

Mentor Email



Mentor Name

Maclean, Ken

Funding Department/Program




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Created at 8/21/2015 7:55 AM by Ross, Randy
Last modified at 8/14/2019 2:01 PM by Zoghby, Caitlin