A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.docVIP

Gupta et al. Behavioral and Brain Functions 2010, 6:33 /content/6/1/33 SHORT PAPER Open Access A novel COMMD1 mutation Thr174Met associated Short paper with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient Arnab Gupta1,3, Ishita Chattopadhyay1, Shashwata Mukherjee1, Mainak Sengupta1, Shyamal K Das2 and Kunal Ray*1 Abstract Wilson disease (WD) results from accumulation of copper and caused due to mutations in ATP7B, a copper transporting ATPase. Besides regular hepatic and neurological symptoms, WD patients occasionally manifest atypical sy