Results 1 to 10 of about 3,098 (169)

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   +6 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   +5 more sources

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.
Raymond D. Hickey, Shennen A. Mao, Jaime Glorioso, Joseph B. Lillegard, James E. Fisher, Bruce Amiot, Piero Rinaldo, Cary O. Harding, Ronald Marler, Milton J. Finegold, Markus Grompe, Scott L. Nyberg   +11 more
doaj   +4 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   +3 more sources

Fumarylacetoacetate hydrolase targeted by a Fusarium graminearum effector positively regulates wheat FHB resistance [PDF]

Nature Communications
Fusarium head blight (FHB), caused by Fusarium graminearum is a devastating disease that affects global wheat production. F. graminearum encodes many effector proteins; however, its virulence mechanisms are poorly understood. In this study, we identify a
Shengping Shang, Yuhan He, Ruihua Zhao, Hanqi Li, Ying Fang, Qianyong Hu, Yujin Fan, Yiwei Wang, Xishi Zhou, Penghao Wang, Xiaoping Xing, Cui-Jun Zhang   +11 more
doaj   +3 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   +10 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 Sikonja, Jernej Brecelj, Mojca Zerjav Tansek, Barbka Repic Lampret, Ana Drole Torkar, Simona Klemencic, Neza Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovac, Barbara Faganel Kotnik, Marketa Tesarova, Ziga Iztok Remec, Marusa Debeljak, Tadej Battelino, Urh Groselj   +15 more
doaj   +2 more sources

Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production. [PDF]

Stem Cell Reports, 2021
A reliable source of human hepatocytes and transplantable livers is needed. Interspecies embryo complementation, which involves implanting donor human stem cells into early morula/blastocyst stage animal embryos, is an emerging solution to the shortage of transplantable livers.
Larson EL, Joo DJ, Nelson ED, Amiot BP, Aravalli RN, Nyberg SL.   +5 more
europepmc   +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   +3 more sources

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

J Vis Exp, 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.
Weiss AKH, Holzknecht M, Cappuccio E, Dorigatti I, Kreidl K, Naschberger A, Rupp B, Gstach H, Jansen-Dürr P.   +8 more
europepmc   +5 more sources