Results 11 to 20 of about 3,137 (203)

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1 [PDF]

BMC Medical Genomics, 2022
Background Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the fumarylacetoacetate hydrolase (FAH) gene encoding the last enzyme of the tyrosine catabolic pathway.
Jiao Chen, Junhui Sun, Xuefang Li, Mengmeng Du   +3 more
doaj   +2 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   +2 more sources

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family [PDF]

Case Reports in Genetics, 2012
Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13 ...
Jayesh J. Sheth, Chitra M. Ankleshwaria, Rajeshwari Pawar, Frenny J. Sheth   +3 more
doaj   +3 more sources

Identification of human fumarylacetoacetate hydrolase domain-containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase. [PDF]

J Biol Chem, 2011
The human fumarylacetoacetate hydrolase (FAH) domain-containing protein 1 (FAHD1) is part of the FAH protein superfamily, but its enzymatic function is unknown. In the quest for a putative enzymatic function of FAHD1, we found that FAHD1 exhibits acylpyruvase activity, demonstrated by the hydrolysis of acetylpyruvate and fumarylpyruvate in vitro ...
Pircher H, Straganz GD, Ehehalt D, Morrow G, Tanguay RM, Jansen-Dürr P.   +5 more
europepmc   +5 more sources

Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1. [PDF]

JIMD Rep, 2015
Hereditary tyrosinemia type 1 (HT1) (OMIM 276700) is a severe inherited metabolic disease affecting mainly hepatic and renal functions that leads to a fatal outcome if untreated. HT1 results from a deficiency of the last enzyme of tyrosine catabolism, fumarylacetoacetate hydrolase (FAH).
Angileri F, Bergeron A, Morrow G, Lettre F, Gray G, Hutchin T, Ball S, Tanguay RM.   +7 more
europepmc   +4 more sources

In vivo selection of transplanted hepatocytes by pharmacological inhibition of fumarylacetoacetate hydrolase in wild-type mice. [PDF]

Mol Ther, 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 ...
Paulk NK, Wursthorn K, Haft A, Pelz C, Clarke G, Newell AH, Olson SB, Harding CO, Finegold MJ, Bateman RL, Witte JF, McClard R, Grompe M.   +12 more
europepmc   +4 more sources

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker [PDF]

JIMD Reports
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life.
Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara   +9 more
doaj   +2 more sources

FAHD1-mediated pyruvate metabolism in hepatocellular carcinoma: Multi-omics and causal genetic evidence [PDF]

HGG Advances
Summary: Hepatocellular carcinoma (HCC) progression is driven by metabolic reprogramming in the tumor microenvironment (TME), yet the causal regulators of pyruvate metabolism and their spatial interplay remain elusive.
Jin Huang, Shijie Liang, Jiamin Sun, Huaping Chen   +3 more
doaj   +2 more sources

Identification of novel antiviral host factors by functional gene expression analysis using in vitro HBV infection assay systems. [PDF]

PLoS ONE
To cure hepatitis B virus (HBV) infection, it is essential to elucidate the function of hepatocyte host factors in regulating the viral life cycle. Signaling and transcription activator of transcription (STAT)1 play important roles in immune responses ...
Takuto Nosaka, Tatsushi Naito, Yu Akazawa, Kazuto Takahashi, Hidetaka Matsuda, Masahiro Ohtani, Tsutomu Nishizawa, Hiroaki Okamoto, Yasunari Nakamoto   +8 more
doaj   +2 more sources

Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias. [PDF]

JIMD Rep
ABSTRACT Tyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal, hence are readily recognized by traditional diagnostic methods in most cases.
Cyr D, Maranda B, Waters PJ.
europepmc   +2 more sources