Articles with "fumarylacetoacetate hydrolase" as a keyword



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Fumarylacetoacetate hydrolase is required for fertility in rice.

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Published in 2021 at "Planta"

DOI: 10.1007/s00425-021-03632-1

Abstract: MAIN CONCLUSION The rice OsFAH gene functions identically to that of Arabidopsis SSCD1 encoding FAH. Loss of OsFAH causes rice sterility. Fumarylacetoacetate hydrolase (FAH) is the last enzyme in the tyrosine (Tyr) degradation pathway that… read more here.

Keywords: fah; rice; fumarylacetoacetate hydrolase; gene ... See more keywords
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Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.

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Published in 2019 at "Molecular genetics and metabolism"

DOI: 10.1016/j.ymgme.2019.01.019

Abstract: Hereditary tyrosinemia type 1 (HT1), the most severe disease of the tyrosine catabolic pathway, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). More than 90 disease-causing variants have been identified in the fah gene.… read more here.

Keywords: tyrosinemia type; fumarylacetoacetate hydrolase; hereditary tyrosinemia; atypical symptoms ... See more keywords