Results 161 to 170 of about 3,137 (203)
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New England Journal of Medicine, 1994
Hereditary tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. The disorder clusters in the Saguenay-Lac-St.-Jean area of Quebec. In this region, 1 of 1846 newborns is affected and 1 of every 22 persons is thought to be a carrier.
M, Grompe +5 more
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Hereditary tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. The disorder clusters in the Saguenay-Lac-St.-Jean area of Quebec. In this region, 1 of 1846 newborns is affected and 1 of every 22 persons is thought to be a carrier.
M, Grompe +5 more
openaire +4 more sources
Fumarylacetoacetate hydrolase is required for fertility in rice
Planta, 2021The 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 is crucial for animals. By genetic analysis of the mutant of Short-day Sensitive Cell Death 1 gene encoding Arabidopsis FAH, we ...
Chao Hu +7 more
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Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate hydrolase
Biochemical Medicine and Metabolic Biology, 1992Hereditary tyrosinemia type I is caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH) (EC 3.7.1.2), the final step in tyrosine degradation. We report here the cloning and sequencing of a full length cDNA coding for murine FAH. This cDNA is highly homologous to the previously cloned human and rat genes.
M, Grompe, M, al-Dhalimy
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The Journal of Immunology, 2023
Abstract Tuberculosis (TB) disease remains the leading cause of mortality from an infectious disease globally, with an estimated 1.6 million deaths in 2021. TB is caused by infection with Mycobacterium tuberculosis (Mtb), resulting in variable outcomes from asymptomatic latent infection to clinical TB disease.
Josephine F Reijneveld +6 more
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Abstract Tuberculosis (TB) disease remains the leading cause of mortality from an infectious disease globally, with an estimated 1.6 million deaths in 2021. TB is caused by infection with Mycobacterium tuberculosis (Mtb), resulting in variable outcomes from asymptomatic latent infection to clinical TB disease.
Josephine F Reijneveld +6 more
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Fumarylacetoacetate hydrolase is involved in salt stress response in Arabidopsis
Planta, 2018Fumarylacetoacetate hydrolase participates in positive regulation of salt stress in Arabidopsis. Fumarylacetoacetate hydrolase (FAH) catalyzes the hydrolysis of fumarylacetoacetate into fumarate and acetoacetate, the final step in the Tyr degradation pathway that is essential to animals.
Lihua Huang +6 more
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X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880
Biological Chemistry, 2004Abstract The human protein FLJ36880 belongs to the fumarylacetoacetate hydrolase family. The X-ray structure of FLJ36880 has been determined to 2.2 Å resolution employing the semi-automated high-throughput structural genomics approach of the Protein Structure Factory.
Manjasetty, B. +7 more
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Biochemical Society Transactions, 2018
Prokaryotic and eukaryotic fumarylacetoacetate hydrolase (FAH) superfamily members, sharing conserved regions that form the so-called FAH-domain, catalyze a remarkable variety of reactions. These enzymes are essential in the metabolic pathways to degrade aromatic compounds in prokaryotes and eukaryotes.
Weiss, Alexander K. H. +4 more
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Prokaryotic and eukaryotic fumarylacetoacetate hydrolase (FAH) superfamily members, sharing conserved regions that form the so-called FAH-domain, catalyze a remarkable variety of reactions. These enzymes are essential in the metabolic pathways to degrade aromatic compounds in prokaryotes and eukaryotes.
Weiss, Alexander K. H. +4 more
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Sugar suppresses cell death caused by disruption of fumarylacetoacetate hydrolase in Arabidopsis
Planta, 2016Sugar negatively regulates cell death resulting from the loss of fumarylacetoacetate hydrolase that catalyzes the last step in the Tyr degradation pathway in Arabidopsis . Fumarylacetoacetate hydrolase (FAH) hydrolyzes fumarylacetoacetate to fumarate and acetoacetate, the final step in the tyrosine (Tyr) degradation pathway that is essential to animals.
Tiantian, Zhi +6 more
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Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview
Human Mutation, 1997Tyrosinemia type I is an inborn error of metabolism caused by a deficiency in the last enzyme of the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH). The disease has been reported worldwide with varying incidence. Recently, there has been considerable progress in identifying mutations in the FAH gene.
M, St-Louis, R M, Tanguay
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