ALKBH1 is a 2-oxoglutarate- and Fe2+-dependent dioxygenase responsible for multiple cellular functions. Here, we show that ALKBH1 is involved in biogenesis of 5-hydroxymethyl-2΄-O-methylcytidine (hm5Cm) and 5-formyl-2΄-O-methylcytidine (f5Cm) at the first position (position 34) of anticodon in cytoplasmic tRNALeu, as well as f5C at the same position in mitochondrial tRNAMet. Because f5C34 of mi...

A human inborn genetic disease, type I phenylketonuria [13] (PKU) is caused by a mutation in the gene encoding the enzyme phenylalanine dehydrogenase necessary to convert L-phenylalanine (L-Phe) to L-tyrosine, (L-Tyr). The accumulated L-Phe is metabolized by enforced side reaction to phenylpyruvate, phenylacetate, and phenyl-L-lactate excreted with urine, Fig. 1. The excess of phenylalanine hin...

introduction to define the clinical features, biochemical and histological findings and outcome of three forms of autoimmune hepatitis.   materials and methods in a cross sectional study between november 2001 to january 2008 in tehran and mashhad university of medical sciences, 61 children who diagnosed as aih (40 girls and 21 boys) have been analyzed for their clinical, serological, and histol...

INTRODUCTION Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway. Implementation of nitisinone (NTBC) treatment has dramatically improved survival rate of individuals with HT1, yet recent reports on cognitive impairment in treated patients exist. AIMS Describe long-term neurocognitive outcome indi...

Hereditary tyrosinemia type 1 (HT1) is a severe inborn error of metabolism, impacting the tyrosine catabolic pathway with a high incidence of hepatocellular carcinoma (HCC). Using a HT1 murine model, we investigated the changes in profiles of circulating and hepatic miRNAs. The aim was to determine if plasma miRNAs could be used as non-invasive markers of liver damage in HT1 progression. Plasma...