Constitutively active JAK2V617F and thrombopoietin receptor (TpoR) W515L/K mutants are major determinants of human myeloproliferative neoplasms (MPNs). We show that a TpoRW515 mutation (W515A), which we detected in 2 myelofibrosis patients, and the 5TpoR active mutant, where the juxtamembrane R/KW515QFP motif is deleted, induce a myeloproliferative phenotype in mouse bone marrow reconstitution ...

Prcflavine, in the range of 5 x 1OU5 M, markedly inhibited prctein synthesis in a subcellular rat liver system. With native messenger ribonucleic acids, leucine incorporation was inhibited more than phenylalanine incorporation. In the presence of polyuridylate, however, phenylalanine incorporation was inhibited more than leucine incorporation. Reversal studies indicated that excess transfer rib...

phatase may reflect enzyme contributions from bone, liver, and intestine. We have investigated serum alkaline phosphatases in two siblings with hypophosphatasia. After administration of long-chain triglycerides, the major alkaline phosphatase component of their sera was shown to be of intestinal origin on the basis of inhibition by l-phenylalanine. Starch block electrophoresis suggested that th...

conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...

introduction phenylketonuria (pku) is a congenital metabolic disorder of phenylalanine, if which, the diet is not to be followed exactly, it can lead to progressive mental retardation. the purpose of this study was to investigate the effect of face to face and non-face to face trainings by parental on controlling serum phenylalanine levels in the children with phenylketonuria. materials and met...

The tryptic peptide containing the active-site cysteine in glyceraldehyde-3-phosphate dehydrogenase from Bacillus stearothermophilus 1503 was isolated after inhibition of the enzyme with (14)C-iodoacetate. The amino acid sequence of the 20-residue peptide was determined by 19 successive cycles of dansyl-Edman degradation. The sequence shows considerable homology with its counterparts from mesop...

The antiangiogenic activity and antitumor efficacy of a newly developed matrix metalloproteinase (MMP) inhibitor were examined. N-biphenyl sulfonyl-phenylalanine hydroxiamic acid (BPHA) potently inhibits MMP-2, -9, and -14, but not MMP-1, -3, or -7. In contrast, (-)BPHA, an enantiomer of BPHA, was inactive against all MMPs tested. Daily oral administration of 200 mg/kg BPHA, but not (-)BPHA in ...

An assessment of the automated fluorimetric technique for the estimation of phenylalanine, using blood collected and stored on filter paper, indicated that its accuracy and precision compared favourably with those of other methods, including the bacteriological inhibition assay. The method appeared to offer advantages, both in the detection of phenylketonuria and for the more accurate determina...