Báo cáo khoa học: Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy docx

... 2009 FEBS 2059 Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy Aurora Daniele 1,2,3 , ... severe form of hyperphenylal- aninemia is classic phenylketonuria. We sequenced the entire gene for phenylalanine hydroxylase in 51 unrela...

Ngày tải lên: 16/03/2014, 01:20

... activity and GTP-stimu- lated RNA foldase activity [17–19]. The presence of both RNA unwinding and RNA folding activities in two distinct domains of the same protein highly sug- gests a role of Gua in ... is a multifunctional nucleolar protein involved in ribosomal RNA processing in Xenopus laevis oocytes and mammalian cells. Downregulation of Gua using small interfering...

Ngày tải lên: 20/02/2014, 01:20

... activation of specific thyla- koid-bound kinase(s). This activation involves the binding of PQH 2 to the quinol-binding site of the cyt b 6 f complex and initiates the phosphorylation of the mobile ... the tip of the PSI core [51, 52]. Arabidopsis plants devoid of the PsaO core subunit showed 50% reduction in state transitions [52], indicating the role of this protein in pu...

Ngày tải lên: 16/03/2014, 06:20

... expression of protein H [23], while BMJ71 is deficient in both protein H and M1 protein [24]. In MC25, the COOH-terminal part of the emm1 gene of AP1 has been deleted resulting in a strain lacking cell ... constructs, spectinomycin (100 lgÆmL )1 )wasused. Proteins, GAGs, radiolabelling and binding assay Recombinant protein H, M1 protein and the A-S and S-C3 fragments of...

Ngày tải lên: 20/02/2014, 11:20

... twofold: the necessity of a cysteine-scanning approach; and the intrinsic bulkiness and hydrophobicity of the pyrene label. Modern fluorescent techniques and novel spectroscopic stains By using ... probes and optical spectroscopy are now entering a phase enabling the in vivo interrogation of the role of oligomers in amyloidosis. Such techniques used in parallel with in...

Ngày tải lên: 06/03/2014, 09:22

... the physical interactions between receptor proteins [51, 52]. Results Radioligand binding assay As shown in Table 1, the binding parameters obtained for dopamine D 1 receptor and its mutant indicate ... different pro- teins of interest, Pearson’s correlation coefficients and coefficients of determination were estimated (Fig. 2C). In case of cells co-expressing dopamine D 1 and...

Ngày tải lên: 07/03/2014, 03:20

... a domain. The domain fold contains a pair of calcium binding sites. While the bc-crystallins of lens (not shown) and lower organisms in Fig. 2 contain two domain folds, spheru- lin 3a and NKA48 ... function. bc-Crystallins are two-domain proteins found in vertebrate eye lenses and have distant relatives in microorganisms (e.g. the proteins in Fig. 2). The bc-crystallin domai...

Ngày tải lên: 07/03/2014, 12:20

... 15-kDa band, containing both the N- and C-terminal chains that are identical in size (band A). Activation of double-chain trypsinogen to double-chain trypsin results in the appearance of band B, ... conversion of trypsinogen to trypsin, as a faint trypsin band became apparent at 60 min, and more significant trypsin generation was detectable by 120 min. In the absence of Ca 2+...

Ngày tải lên: 17/03/2014, 03:20

... as shown in Figure 1 and 2. Taking advantage of this, we propose here a new method for analyzing the PBF diagrams by using natural language information. In the PBF, many kinds of information ... Process of PBF Diagram Understanding 4.1 Representation of Layout Information Layout information is represented by hand in the following way. Step 1. give ID number to all word...

Ngày tải lên: 17/03/2014, 07:20

... in the hydrophobic cavity of the protein and a degree of conformational changes accompanying ligand binding. The structural adaptability of LlPR-10.2B and its ability to bind different cytokinins ... University of Lodz, Poland 3 Department of Protein Engineering, Faculty of Biotechnology, University of Wroclaw, Poland 4 Institute of Plant Genetics, Polish Academy of...

Ngày tải lên: 23/03/2014, 06:20