Monisha Patel, Ankita Jaiswal, Anam Naseer, Ankita Tripathi, Aayushi Joshi, Tarun Minocha, Aanand Kautu, Shilpi Gupta, Khashti Ballabh Joshi, Manoj Kumar Pandey, Randhir Kumar, Kshatresh Dutta Dubey, Aamir Nazir, Sandeep Verma, Nidhi Gour
Novel insights into the etiology of metabolic disorders have recently been uncovered through the study of metabolite amyloids. In particular, inborn errors of metabolism (IEMs), including gout, Lesch-Nyhan syndrome (LNS), xanthinuria, citrullinemia, and hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, are attributed to the dysfunction of the urea cycle and uric acid pathway. In this study, we endeavored to understand and mechanistically characterize the aggregative property exhibited by the principal metabolites of the urea cycle and uric acid pathway, specifically hypoxanthine, xanthine, citrulline, and ornithine...
February 18, 2024: ACS Chemical Neuroscience