sedoheptulose/fibrosis

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Evaluation of 7-O-galloyl-D-sedoheptulose, isolated from Corni Fructus, in the adipose tissue of type 2 diabetic db/db mice.

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Identifikohuni Regjistrohu

The aim of the present study was to evaluate the beneficial effects of 7-O-galloyl-D-sedoheptulose (GS), isolated from Corni Fructus, using type 2 diabetic mice. GS was orally administered to db/db mice at doses of 20 and 100 mg/kg body weight per day for 6 weeks, and the effects of GS on

Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

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Identifikohuni Regjistrohu

We evaluated a family with a 16-month-old boy with cirrhosis and hepatocellular carcinoma and his 30-month-old brother with cirrhosis. After failing to identify a diagnosis after routine metabolic evaluation, we utilized a combination of RNA-Seq and whole exome sequencing to identify a novel

Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase.

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Identifikohuni Regjistrohu

Homozygous deletion of three nucleotides coding for Ser-171 (S171) of TAL-H (human transaldolase) has been identified in a female patient with liver cirrhosis. Accumulation of sedoheptulose 7-phosphate raised the possibility of TAL (transaldolase) deficiency in this patient. In the present study, we

Study of transaldolase deficiency in urine samples by capillary LC-MS/MS.

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Identifikohuni Regjistrohu

Transaldolase (TAL) is a key enzyme of the pentose phosphate pathway (PPP). TAL deficiency is a newly recognized cause of liver cirrhosis. We have developed an ion-pair LC separation combined with negative ion electrospray MS/MS detection method to assess PPP metabolites in urine samples from

[A newly discovered metabolic diseases due to defects in the pentose pathway].

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Identifikohuni Regjistrohu

Two previously unreported inborn errors of metabolism occur in the reversible part of the pentose phosphate pathway. Deficiency of ribose-5-phosphate isomerase has been described in one patient who suffered from a progressive leukoencephalopathy and developmental delay. Transaldolase deficiency has

Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.

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Identifikohuni Regjistrohu

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 as transketolase (TKT), are incompatible with mammalian cell survival, mice lacking TAL are viable and develop progressive

Clinical and molecular characteristics of two transaldolase-deficient patients.

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Identifikohuni Regjistrohu

Transaldolase (TALDO) deficiency is a rare metabolic disease in the pentose phosphate pathway, which manifests as a severe, early-onset multisystem disease. The body fluids of affected patients contain increased polyol concentrations and seven-carbon chain carbohydrates. We report the molecular and

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

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Identifikohuni Regjistrohu

Although oxidative stress has been implicated in acute acetaminophen-induced liver failure and in chronic liver cirrhosis and hepatocellular carcinoma (HCC), no common underlying metabolic pathway has been identified. Recent case reports suggest a link between the pentose phosphate pathway (PPP)

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

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Identifikohuni Regjistrohu

Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We report a case presenting prenatally with hyperechogenic bowel and intrauterine growth restriction. The infant was born small for

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