Role of the aromatic hydrocarbon receptor and [Ah] gene battery in the oxidative stress response, cell cycle control, and apoptosis

DW Nebert, AL Roe, MZ Dieter, WA Solis… - Biochemical …, 2000 - Elsevier
The chronology and history of characterizing the aromatic hydrocarbon [Ah] battery is
reviewed. This battery represents the Ah receptor (AHR)-mediated control of at least six, and …

Tyrosinemia: a review

PA Russo, GA Mitchell, RM Tanguay - Pediatric and Developmental …, 2001 - Springer
Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal
tyrosinemia, HT1) results in the most extensive clinical and pathological manifestations …

Genome-wide detection of CRISPR editing in vivo using GUIDE-tag

SQ Liang, P Liu, JL Smith, E Mintzer, S Maitland… - Nature …, 2022 - nature.com
Abstract Analysis of off-target editing is an important aspect of the development of safe
nuclease-based genome editing therapeutics. in vivo assessment of nuclease off-target …

[HTML][HTML] In vivo quantitative photoacoustic evaluation of the liver and kidney pathology in tyrosinemia

G Huang, J Lv, Y He, J Yang, L Zeng, L Nie - Photoacoustics, 2022 - Elsevier
Hereditary tyrosinemia type Ⅰ (HT1) is a severe autosomal recessive inherited metabolic
disease, which can result in severe damage of liver and kidney. Photoacoustic imaging (PAI) …

A journey of hope: lessons learned from studies on rare diseases and orphan drugs

M Wästfelt, B Fadeel, JI Henter - Journal of internal medicine, 2006 - Wiley Online Library
Rare diseases are frequently life‐threatening or chronically debilitating and the impact on
the quality of life of affected patients and their family members is thus significant. However …

The pathophysiology and treatment of hereditary tyrosinemia type 1

M Grompe - Seminars in liver disease, 2001 - thieme-connect.com
The topic of this review is hepatorenal tyrosinemia (hereditary tyrosinemia type 1 [HT1], or
fumarylacetoacetate hydrolase deficiency; OMIM# 276700). HT1 is the most serious and …

Nitisinone in the treatment of hereditary tyrosinaemia type 1

PJ McKiernan - Drugs, 2006 - Springer
Abstract Hereditary tyrosinaemia type 1 (HT-1) is a rare genetic disease caused by
mutations in the gene for the enzyme fumarylacetoacetase. It usually presents with liver …

Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability

R Jorquera, RM Tanguay - Human molecular genetics, 2001 - academic.oup.com
Patients suffering from the metabolic disease hereditary tyrosinemia type I (HT1), caused by
fumarylacetoacetate hydrolase deficiency, have a high risk of developing liver cancer. We …

Endogenous toxic metabolites and implications in cancer therapy

N Lee, ME Spears, AE Carlisle, D Kim - Oncogene, 2020 - nature.com
It is well recognized that many metabolic enzymes play essential roles in cancer cells in
producing building blocks such as nucleotides, which are required in greater amounts due …

Toxic metabolites and inborn errors of amino acid metabolism: what one informs about the other

N Lee, D Kim - Metabolites, 2022 - mdpi.com
In inborn errors of metabolism, such as amino acid breakdown disorders, loss of function
mutations in metabolic enzymes within the catabolism pathway lead to an accumulation of …