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Open Access 01-12-2010 | Short paper

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

Authors: Arnab Gupta, Ishita Chattopadhyay, Shashwata Mukherjee, Mainak Sengupta, Shyamal K Das, Kunal Ray

Published in: Behavioral and Brain Functions | Issue 1/2010

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 symptoms due to unknown cause. To understand the molecular etiology of atypical WD manifestations, we screened COMMD1, a gene implicated in canine copper toxicosis, in 109 WD patients including those with atypical symptoms. In a patient showing apoptotic symptoms and high urinary copper surpassing normal WD levels, we identified a novel, putative mutation in COMMD1. Two other changes were also identified in the gene. We have examined genotype-phenotype correlation between the detected changes and the atypical presentation of the WD patient.

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Title: A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient
Authors: Arnab Gupta
Ishita Chattopadhyay
Shashwata Mukherjee
Mainak Sengupta
Shyamal K Das
Kunal Ray
Publication date: 01-12-2010
Publisher: BioMed Central
Published in: Behavioral and Brain Functions / Issue 1/2010
Electronic ISSN: 1744-9081
DOI: https://doi.org/10.1186/1744-9081-6-33

2024 ASCO Annual Meeting

Springer Medicine

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

Abstract

2024 ASCO Annual Meeting

Springer Medicine

Abstract

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