We report the identification of a female patient with the Xlinked recessive Lesch-Nyhan syndrome (hypoxanthine phosphoribosyltransferase [HPRTI deficiency). Cytogenetic and carrier studies revealed structurally normal chromosomes for this patient and her parents and demonstrated that this mutation arose through a de novo gametic event. Comparison of this patient's DNA with the DNA of her parent...

Evidence is presented for the operation in nodules of at least four systems for restoring functional ferrous leghemoglobin (LB2+) from its inactive, ferric form. (i) Reduction of ferric leghemoglobin (LB3+) by a reductase. The enzyme is a flavoprotein of 100 kDa with two equally sized subunits andexhibits a Km of 9 microM for soybean LB3+ component a and a Km of 51 microM for NADH. NADPH is onl...

BACKGROUND HBeAg negative hepatitis B infection exerts both inactive carrier state and chronic active hepatitis, which are sometimes difficult to differentiate. Serial hepatitis B virus (HBV) DNA quantification, alanine transaminase (ALT) measurement, and liver histology assessment can help to differentiate these forms of hepatitis B infection. OBJECTIVES We aimed to clarify the clinical and ...

Termination of protein synthesis on the ribosome is catalyzed by release factors (RFs), which share a conserved glycine-glycine-glutamine (GGQ) motif. The glutamine residue is methylated in vivo, but a mechanistic understanding of its contribution to hydrolysis is lacking. Here, we show that the modification, apart from increasing the overall rate of termination on all dipeptides, substantially...

WNK kinases [with no lysine (K) kinase] are emerging as regulators of several membrane transport proteins in which WNKs act as molecular switches that coordinate the activity of several players. Members of the cation-coupled chloride cotransporters family (solute carrier family number 12) are one of the main targets. WNK3 activates the Na(+)-driven cotransporters NCC, NKCC1, and NKCC2 and inhib...

Two subtypes of equilibrative transporters, es (equilibrative inhibitor-sensitive) and ei (equilibrative inhibitor-insensitive), are responsible for the majority of nucleoside flux across mammalian cell membranes. Sequence analyses of the representative genes, ENT1 {equilibrative nucleoside transporter 1; also known as SLC29A1 [solute carrier family 29 (nucleoside transporters), member 1]} and ...

A unique feature of certain members of the heterogeneous nuclear ribonucleoprotein (hnRNP) family of proteins is that they shuttle continuously between nucleus and cytoplasm and their accumulation in the nucleus is transcription-dependent. An extensively characterised protein of this group is hnRNP A1. To date, most studies addressing the transcription-dependent transport of hnRNP A1 have been ...

this study aimed at investigating the variations of blood pressure, heart rate and oxygen consumption and their relationship with body lipid profile in active and inactive students. 10 active students (mean age 21 yr, weight 68.1 kg and height 174.1 cm) and 10 inactive students (mean age 21.5 yr, weight 73.07 kg and height 177 cm) from shahid rajaee teacher training university who volunteered t...