Transaldolase haploinsufficiency in subjects with acetaminophen‐induced liver failure

Z Oaks, J Jimah, CC Grossman… - Journal of Inherited …, 2020 - Wiley Online Library
Transaldolase (TAL) is an enzyme in the pentose phosphate pathway (PPP) that generates
NADPH for protection against oxidative stress. While deficiency of other PPP enzymes, such …

[HTML][HTML] Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteine

R Hanczko, DR Fernandez, E Doherty… - The Journal of …, 2009 - Am Soc Clin Investig
Although oxidative stress has been implicated in acute acetaminophen-induced liver failure
and in chronic liver cirrhosis and hepatocellular carcinoma (HCC), no common underlying …

[PDF][PDF] TAL deficiency, all roads lead to oxidative stress?

M Hatting, C Trautwein, FJ Cubero - Hepatology, 2009 - Wiley Online Library
Although oxidative stress has been implicated in acute acetaminophen-induced liver failure
and in chronic liver cirrhosis and hepatocellular carcinoma (HCC), no common underlying …

Apparent acetaminophen toxicity in a patient with transaldolase deficiency

J Lee-Barber, TE English, JF Britton, N Sobreira… - JIMD Reports, Volume …, 2019 - Springer
Abstract Transaldolase deficiency (MIM#: 606003) is a rare autosomal recessive defect in
the pentose phosphate pathway. Affected individuals are at risk for progressive liver failure …

Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure

S Balasubramaniam, MMC Wamelink… - Journal of pediatric …, 2011 - journals.lww.com
Transaldolase (TALDO) deficiency (OMIM# 606003), a recently recognized new inborn error
of the pentose phosphate pathway (PPP), has been reported to date in only 10 patients from …

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

NM Verhoeven, M Wallot, JHJ Huck, O Dirsch… - Journal of inherited …, 2005 - Springer
This paper describes the second patient found to be affected with a deficiency of
transaldolase (TALDO1; EC 2.2. 1.2). Clinically, this patient presented in the neonatal period …

[PDF][PDF] Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1

T Grammatikopoulos, N Hadzic… - Hepatology …, 2022 - Wiley Online Library
Mutations in the transaldolase 1 (TALDO1) gene have been described in a limited number of
cases. Several organs can be affected and clinical manifestations are variable, but often …

Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase

A Perl, R Hanczko, T Telarico, Z Oaks… - Trends in molecular …, 2011 - cell.com
Metabolism of glucose through the pentose phosphate pathway (PPP) influences the
development of diverse pathologies. Hemolytic anemia due to deficiency of PPP enzyme …

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

AM Al-Shamsi, S Ben-Salem, J Hertecant… - European Journal of …, 2015 - Springer
Transaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism
characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic …

The pathogenesis of transaldolase deficiency

A Perl - IUBMB life, 2007 - Wiley Online Library
The signaling networks that mediate cell growth, differentiation, and survival are dependent
on complex metabolic and redox pathways. Metabolism of glucose through the pentose …