74 citations
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July 1995 in “PubMed” This study suggests that reversible hypopigmentation in homocystinuric patients may result from tyrosinase inhibition by homocyst(e)ine, with in-vitro experiments showing copper sulfate reversing this inhibition.
29 citations
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December 2017 in “Molecular therapy” This study found that enzyme replacement therapy in mice with a severe form of classical homocystinuria improved metabolic patterns and alleviated many clinical symptoms.
13 citations
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May 2012 in “Cutaneous and ocular toxicology” In this study, researchers found no significant differences in vitamin B12, folate, and homocysteine metabolism between patients with alopecia areata and controls, suggesting no association with vitamin B12 deficiency.
7 citations
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March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
5 citations
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September 2018 in “International journal of genomics” This study found that keratin damage in mammals and birds can result from N-homocysteinylation, reducing keratin solubility and indicating significant protein modification through genetic or nutritional disruptions in homocysteine metabolism.