Results 21 to 30 of about 3,137 (203)

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)

Molecular Genetics & Genomic Medicine, 2023
Background Hereditary tyrosinemia type 1 (HT1) is a rare inherited metabolic disease characterized by severe liver and renal dysfunction. Early identification in affected children is critical for improved treatment options and prognosis.
Huan Chi, Chun Gan, Yaru Jiang, Dan Chen, Jiawen Qiu, Qing Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li   +10 more
doaj   +1 more source

In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions

Nature Communications, 2022
Hereditary tyrosinemia type 1 (HT1) is an inborn error of metabolism caused by a deficiency in fumarylacetoacetate hydrolase (FAH). Here, the authors show in an animal model that HT1 can be treated via in vivo portal vein administration of a lentiviral ...
Clara T. Nicolas, Caitlin J. VanLith, Raymond D. Hickey, Zeji Du, Lori G. Hillin, Rebekah M. Guthman, William J. Cao, Benjamin Haugo, Annika Lillegard, Diya Roy, Aditya Bhagwate, Daniel O’Brien, Jean-Pierre Kocher, Robert A. Kaiser, Stephen J. Russell, Joseph B. Lillegard   +15 more
doaj   +1 more source

The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia. [PDF]

J Biol Chem, 2008
Fisher AL, Page KE, Lithgow GJ, Nash L.
europepmc   +3 more sources

Tyrosinemia type I: an unusual case presentation

Journal of Biochemical and Clinical Genetics, 2022
Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Marwa ALMahroos, Mohammed AlMannai
doaj   +1 more source

Targeting the Apoa1 locus for liver-directed gene therapy

Molecular Therapy: Methods & Clinical Development, 2021
Clinical application of somatic genome editing requires therapeutics that are generalizable to a broad range of patients. Targeted insertion of promoterless transgenes can ensure that edits are permanent and broadly applicable while minimizing risks of ...
Marco De Giorgi, Ang Li, Ayrea Hurley, Mercedes Barzi, Alexandria M. Doerfler, Nikitha A. Cherayil, Harrison E. Smith, Jonathan D. Brown, Charles Y. Lin, Karl-Dimiter Bissig, Gang Bao, William R. Lagor   +11 more
doaj   +1 more source

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

Molecular Therapy: Methods & Clinical Development, 2022
Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available.
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring   +11 more
doaj   +1 more source

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience. [PDF]

JIMD Rep
ABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Adam AS, Marcélis L, Fage D, Mathieu E, Empain A, Dufour C, Cotton F, de Laet C.   +7 more
europepmc   +2 more sources

bZIP63.5 Regulates a Zinc-Finger Mediated Detoxification Network in Trichoderma Harzianum for Enhanced Biocontrol of Alternaria alternata. [PDF]

Microb Biotechnol
The bZIP63.5 transcription factor, activated by Alternaria alternata stress, directly upregulates zinc‐finger transcription factors (Zn2CyS6 and C2H2 types), which in turn enhance the expression of downstream detoxification and defence‐related genes, collectively improving the biocontrol efficacy of Trichoderma harzianum.
Yang Y, Zhang H, Liu B, Han J, Kong N, Gao J, Liu Z.   +6 more
europepmc   +2 more sources

Tyrosinemia in a toddler, a case report

Annals of Hepatology, 2022
Introduction and Objectives: This study aimed to present the case of a toddler with acute-on chronic liver failure probably related to tyrosinemia. Case Summary: a two-year four-month-old male infant presented with gastroenteritis, which three days later
GA Gómez Vidrio, M Lescas Orozco, MR Lara Tostado, I Suárez Ponce, FA Reynoso Zarzosa   +4 more
doaj   +1 more source

LC-MS proteomics analysis of the iInsulin/IGF-1-deficient Caenorhabditis elegans daf-2(e1370) mutant reveals extensive restructuring of intermediary metabolism [PDF]

, 2014
The insulin/IGF-1 receptor is a major known determinant of dauer formation, stress resistance, longevity, and metabolism in Caenorhabditis elegans. In the past, whole-genome transcript profiling was used extensively to study differential gene expression ...
Braeckman, Bart, Brewer, Heather M, Camp, David G, II, Depuydt, Geert, Petyuk, Vladislav A, Smith, Richard D, Smolders, Arne, Xie, Fang   +7 more
core   +2 more sources