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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
exaly +3 more sources
Human Molecular Genetics, 1993
Hereditary tyrosinemia type 1 is an autosomal recessive disease caused by a deficiency of the last enzyme in the catabolic pathway of tyrosine, fumarylacetoacetate hydrolase (FAH). To analyze the mutations involved in this disease, and as a first step towards elucidating the mechanisms regulating the transcription of the FAH gene, we have isolated and ...
Y, Labelle +3 more
openaire +2 more sources
Hereditary tyrosinemia type 1 is an autosomal recessive disease caused by a deficiency of the last enzyme in the catabolic pathway of tyrosine, fumarylacetoacetate hydrolase (FAH). To analyze the mutations involved in this disease, and as a first step towards elucidating the mechanisms regulating the transcription of the FAH gene, we have isolated and ...
Y, Labelle +3 more
openaire +2 more sources
Biochemical Genetics
Tyrosinemia type 1 is a rare disease with autosomal recessive inheritance. It occurs as a result of mutations in fumarylacetoacetate hydrolase (FAH), causing the accumulation of succinylacetone (SA) and fumarylacetoacetate metabolites, leading to severe damage to the patient's liver and kidney.
Asie Sadeghi, Mohammad Jalili-Nik
exaly +3 more sources
Tyrosinemia type 1 is a rare disease with autosomal recessive inheritance. It occurs as a result of mutations in fumarylacetoacetate hydrolase (FAH), causing the accumulation of succinylacetone (SA) and fumarylacetoacetate metabolites, leading to severe damage to the patient's liver and kidney.
Asie Sadeghi, Mohammad Jalili-Nik
exaly +3 more sources
Journal of Genetics and Genomics
Carbohydrate partitioning from photosynthetic sources to non-photosynthetic sinks is essential for plant development and crop yield. Using a maize-teosinte BC2S3 population, we identify Chlorotic Leaf Spot1 (CLS1), a fumarylacetoacetate hydrolase (FAH) in the tyrosine degradation pathway that plays an essential role in carbohydrate partitioning in ...
Ruchang Ren +10 more
openaire +2 more sources
Carbohydrate partitioning from photosynthetic sources to non-photosynthetic sinks is essential for plant development and crop yield. Using a maize-teosinte BC2S3 population, we identify Chlorotic Leaf Spot1 (CLS1), a fumarylacetoacetate hydrolase (FAH) in the tyrosine degradation pathway that plays an essential role in carbohydrate partitioning in ...
Ruchang Ren +10 more
openaire +2 more sources
Mutations In Fumarylacetoacetate Hydrolase Gene And Genotype-Phenotype Relation
2010Dursun, Ali/0000-0003-1104 ...
Özgül, R. K. +6 more
openaire +1 more source
Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency
2020William L. Nyhan +3 more
openaire +1 more source
Journal of basic microbiology, 2016
Fumarylacetoacetate hydrolase (FAH) catalyzes the hydrolytic cleavage of a carbon-carbon bond in fumarylacetoacetate to yield acetoacetate and fumarate as the final step in tyrosine degradation. In this study, the FAH genomic DNA and cDNA of Rhodosporidium.
Yuxuan, Liu +6 more
openaire +1 more source
Fumarylacetoacetate hydrolase (FAH) catalyzes the hydrolytic cleavage of a carbon-carbon bond in fumarylacetoacetate to yield acetoacetate and fumarate as the final step in tyrosine degradation. In this study, the FAH genomic DNA and cDNA of Rhodosporidium.
Yuxuan, Liu +6 more
openaire +1 more source