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Article

Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.

Journal of biomolecular structure & dynamics - 1 Mar 2021

Sen Gupta Parth Sarthi, Islam Rifat Nawaz Ui, Banerjee Sahini, Nayek Arnab, Rana Malay Kumar, Bandyopadhyay Amal Kumar

Abstract excerpt

Alkaptonuria (AKU) is an autosomal recessive disorder, which is caused by a site-specific mutation(s) and thus, impaired the function of Homogentisate-1, 2-dioxygenase (HGD), an essential enzyme for the catabolism of phenylalanine and tyrosine. Among frameshift, intronic, splice-site and missense mutations, the latter has been the most common form of genetic variations for the disease. How do the acquired...

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PMID: 32107984
DOI: 10.1080/07391102.2020.1736158

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