Results 11 to 20 of about 3,274 (204)

Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease [PDF]

Stem Cell Research, 2014
Hereditary tyrosinemia type I (HT1) is caused by deficiency in fumarylacetoacetate hydrolase (FAH), an enzyme that catalyzes the last step of tyrosine metabolism.
Shennen A Mao, Joseph B Lillegard, Bruce P Amiot   +2 more
exaly   +7 more sources

Phenylalanine suppresses cell death caused by loss of fumarylacetoacetate hydrolase in Arabidopsis [PDF]

Scientific Reports, 2022
Fumarylacetoacetate hydrolase (FAH) catalyzes the final step of Tyrosine (Tyr) degradation pathway essential to animals and the deficiency of FAH causes an inborn lethal disease.
Yihe Jiang, Qi Zhu, Hua Yang, Tiantian Zhi, Chunmei Ren   +4 more
doaj   +8 more sources

Inhibitors of Fumarylacetoacetate Hydrolase Domain Containing Protein 1 (FAHD1) [PDF]

Molecules, 2021
FAH domain containing protein 1 (FAHD1) acts as oxaloacetate decarboxylase in mitochondria, contributing to the regulation of the tricarboxylic acid cycle.
Alexander K. H. Weiss, Richard Wurzer, Patrycia Klapec, Manuel Philip Eder, Johannes R. Loeffler, Susanne von Grafenstein, Stefania Monteleone, Klaus R. Liedl, Pidder Jansen-Dürr, Hubert Gstach   +9 more
doaj   +8 more sources

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant [PDF]

Molecular Genetics and Metabolism Reports, 2022
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment.We presented the follow up of the
Jaka Šikonja, Mojca Zerjav Tansek, Jernej Kovač   +2 more
exaly   +5 more sources

Fumarylacetoacetate Hydrolase Regulates Seed Dormancy and Germination Through the Gibberellin Pathway in Arabidopsis [PDF]

Plants
Tyrosine (Tyr) degradation is a crucial pathway in animals. However, its role in plants remains to be examined. Fumarylacetoacetate hydrolase (FAH) is the final enzyme involved in Tyr degradation. Studies of a mutant of the SHORT-DAY SENSITIVE CELL DEATH
Chao Hu, Hua Yang, Xuewen Zhang, Chunmei Ren, Lihua Huang   +4 more
doaj   +7 more sources

Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1. [PDF]

J Biol Chem, 2017
Hereditary tyrosinemia type 1 (HT1) is a severe human autosomal recessive disorder caused by the deficiency of fumarylacetoacetate hydroxylase (FAH), an enzyme catalyzing the last step in the tyrosine degradation pathway.
Li L, Zhang Q, Yang H, Zou Q, Lai C, Jiang F, Zhao P, Luo Z, Yang J, Chen Q, Wang Y, Newsome PN, Frampton J, Maxwell PH, Li W, Chen S, Wang D, Siu TS, Tam S, Tse HF, Qin B, Bao X, Esteban MA, Lai L.   +23 more
europepmc   +12 more sources

Expression, Purification, Crystallization, and Enzyme Assays of Fumarylacetoacetate Hydrolase Domain-Containing Proteins [PDF]

Journal of Visualized Experiments, 2019
Fumarylacetoacetate hydrolase (FAH) domain-containing proteins (FAHD) are identified members of the FAH superfamily in eukaryotes. Enzymes of this superfamily generally display multi-functionality, involving mainly hydrolase and decarboxylase mechanisms.
Andreas Naschberger, Bernhard Rupp, Hubert Gstach   +2 more
exaly   +7 more sources

Cell death resulted from loss of fumarylacetoacetate hydrolase in Arabidopsis is related to phytohormone jasmonate but not salicylic acid [PDF]

Scientific Reports, 2020
Fumarylacetoacetate hydrolase (FAH) catalyzes the final step in Tyr degradation pathway essential to animals but not well understood in plants. Previously, we found that mutation of SSCD1 encoding Arabidopsis FAH causes cell death under short day, which ...
Zhou Zhou, Tiantian Zhi, Chengyun Han, Zhihong Peng, Ruozhong Wang, Jianhua Tong, Qi Zhu, Chunmei Ren   +7 more
doaj   +4 more sources

A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation [PDF]

BMC Genetics, 2001
Background Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH).
Baklouti Faouzi, Levy Harvey L, Bergeron Anne, Poudrier Jacques A, Dreumont Natacha, Tanguay Robert M   +5 more
doaj   +5 more sources

In Vivo Selection of Transplanted Hepatocytes by Pharmacological Inhibition of Fumarylacetoacetate Hydrolase in Wild-type Mice [PDF]

Molecular Therapy, 2012
Genetic fumarylacetoacetate hydrolase (Fah) deficiency is unique in that healthy gene-corrected hepatocytes have a strong growth advantage and can repopulate the diseased liver. Unfortunately, similar positive selection of gene-corrected cells is absent in most inborn errors of liver metabolism and it is difficult to reach the cell replacement index ...
Nicole K Paulk, Markus Grompe, Susan Olson   +2 more
exaly   +6 more sources