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As seen in: The Journal of Biological Chemistry
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Articles

Biochemical and functional characterization of the p.A165T missense variant of mitochondrial amidoxime-reducing component 1

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By Wangfang Hou, Christian Watson, Ted Cecconie, MEDDesign-NCE-MD SPMB US
| The Journal of Biological Chemistry Verified
Abstract Recent genome-wide association studies have identified a missense variant p.A165T in mitochondrial amidoxime-reducing component 1 (mARC1) that is strongly associated with protection from all-cause cirrhosis and improved prognosis in nonalcoholic steatohepatitis (NASH). The precise mechanism of this protective effect is unknown. Substitution of alanine 165 with threonine is predicted to affect mARC1 protein stability and to have deleterious effects on its function.
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