Results 111 to 120 of about 2,341 (138)

EX VIVO GENE EDITING AND CELL THERAPY FOR HEREDITARY TYROSINEMIA TYPE 1

2023
ABSTRACTBackground & AimsWe previously demonstrated the successful use ofin vivoCRISPR gene editing to delete 4-hydroxyphenylpyruvate dioxygenase (HPD) to rescue mice deficient in fumarylacetoacetate hydrolase (FAH), a disorder known as hereditary tyrosinemia type 1 (HT1).
Ilayda Ates, Tanner Rathbone, Callie Stuart, Mercedes Barzi, Gordon He, Angela M. Major, Shanthi Srinivasan, Alton Brad Farris, Karl-Dimiter Bissig, Renee N. Cottle   +9 more
openaire   +1 more source

Evaluation of dichloroacetate treatment in a murine model of hereditary tyrosinemia type 1

Biochemical Pharmacology, 2006
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease severely affecting liver and kidney and is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). Administration of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) improves the HT1 phenotype but some patients do not respond to NTBC therapy.
Chantale, Langlois, Rossana, Jorquera, Milton, Finegold, Albert L, Shroads, Peter W, Stacpoole, Robert M, Tanguay   +5 more
openaire   +2 more sources

Chronic liver disease in murine hereditary tyrosinemia type 1 induces resistance to cell death

Hepatology, 2004
The murine model of hereditary tyrosinemia type 1 (HT1) was used to analyze the relationship between chronic liver disease and programmed cell death in vivo. In healthy fumarylacetoacetate hydrolase deficient mice (Fah -/-), protected from liver injury by the drug 2-(2- nitro-4 ...
Arndt, Vogel, Inge E T, van Den Berg, Muhsen, Al-Dhalimy, John, Groopman, Ching-Nan, Ou, Olga, Ryabinina, Mihail S, Iordanov, Milton, Finegold, Markus, Grompe   +8 more
openaire   +2 more sources

Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1)

Biochemical Society Transactions, 2015
The nuclear erythroid 2-like 2 transcription factor (NRF2), is a major regulator of cellular redox balance. Although NRF2 activation is generally regarded as beneficial to human health, recent studies have identified that sustained NRF2 activation is over-represented in many cancers. This raises the question regarding the role of NRF2 activation in the
Ivraj Singh, Sandhu, Nicholas James, Maksim, Eva Alice, Amouzougan, Bryce Wilson, Gallion, Anthony L J, Raviele, Aikseng, Ooi   +5 more
openaire   +2 more sources

Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases

World Journal of Pediatrics, 2011
Hereditary tyrosinemia type 1 (HT1) is an increasingly recognized inborn error of metabolism among Egyptian children. This study was undertaken to define the presenting clinical, biochemical and imaging features and outcome of 2-(2-motrp-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) therapy and liver transplantation in a cohort of Egyptian ...
Hanaa, El-Karaksy, Mona, Fahmy, Mona, El-Raziky, Nehal, El-Koofy, Rokaya, El-Sayed, Mohamed S, Rashed, Hasan, El-Kiki, Ahmad, El-Hennawy, Nabil, Mohsen   +8 more
openaire   +2 more sources

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1

European Journal of Pediatrics, 2009
In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening.We present the case of a female newborn with prenatal diagnosis of hereditary tyrosinemia type 1 and clear identification of this disorder by succinylacetone measurement in cord blood and peripheral blood immediately after birth.
Schlump, Jan-Ulrich, Mayatepek, Ertan, Spiekerkoetter, Ute   +2 more
openaire   +2 more sources

Iron overload in hereditary tyrosinemia type 1 induces liver injury through the Sp1/Tfr2/hepcidin axis

Journal of Hepatology, 2016
Iron is an essential metal for fundamental metabolic processes, but little is known regarding the involvement of iron in other nutritional disorders. In the present study, we investigated disordered iron metabolism in a murine model of hereditary tyrosinemia type I (HT1), a disease of the tyrosine degradation pathway.We analysed the status of iron ...
Wen-Dai, Bao, Yao, Fan, Yue-Zhen, Deng, Ling-Yun, Long, Jing-Jing, Wang, Dong-Xian, Guan, Zhen-Yu, Qian, Peng, An, Yuan-Yuan, Feng, Zhi-Ying, He, Xiao-Fan, Wang, H, Phillip Koeffler, Ronggui, Hu, Jianshe, Wang, Xin, Wang, Fudi, Wang, Jing-Jing, Li, Dong, Xie   +17 more
openaire   +2 more sources

A patient with urinary succinylacetone‐negative hereditary tyrosinemia type 1

Pediatrics International, 2023
Jun Mori, Taizo Furukawa, Kazuki Kodo, Hisakazu Nakajima, Miori Yuasa, Mitsuru Kubota, Yosuke Shigematsu   +6 more
openaire   +2 more sources

Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation

Human Mutation, 1996
M, St-Louis, J, Poudrier, R M, Tanguay
openaire   +2 more sources

Hereditary tyrosinemia type 1

Current Opinion in Gastroenterology, 1991
openaire   +1 more source