Transaldolase haploinsufficiency in subjects with acetaminophen‐induced liver failure
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
on complex metabolic and redox pathways. Metabolism of glucose through the pentose …