Báo cáo khoa học: Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase pot

... (C1–3) loops. In addition, GPCRs contain a more or less extended N-terminal domain and C-terminal domain, which are both often involved either in ligand binding or G-pro- tein coupling. Owing to their ... fragment spanning residues 93–131 and including the proposed trans- membrane segment 1 was identified as a central area involved in endo- thelin-1 binding as well as in human endoth...

Ngày tải lên: 16/03/2014, 10:20

... N-terminal region of DEC1, including the bHLH domain, interacted with the C-terminal r egion o f BMAL1 in a mammalian two-hybrid assay. Accordingly, a Fig. 5. Analysis of DEC1 mutants for binding to ... C-terminal region, including the PAS-B domain of BMAL1, is required for the binding to DEC1, Fig. 4. Identification of the domain of D EC1 that interacts with BMAL 1. Interactions...

Ngày tải lên: 19/02/2014, 16:20

... FEBS 4505 Functional analysis of a murine monoclonal antibody against the repetitive region of the fibronectin-binding adhesins fibronectin-binding protein A and fibronectin-binding protein B from ... fibronectin. The C-terminal domain of fibronectin-binding protein A is organized into 11 tandem repeats, six of which bind the ligand with high affinity; other sites bind more weakly. Fibr...

Ngày tải lên: 06/03/2014, 22:21

... 2A). In some cells, the mutant proteins were also observed in the cytoplasm, as seen for the wild-type protein. Similar staining patterns were observed in other human cell lines, including hepatoma ... the GALE proteins, suggesting that these mutant proteins indeed become incorporated into aggresomes. GALE activity towards UDP-galactose To determine the functional consequences of...

Ngày tải lên: 07/03/2014, 00:20

... group of GHMP kinases in which proton transfer does not play a major role in the rate determining step of catalysis. That five of the 10 disease-causing mutations resulted in insoluble protein in ... 2003 homoserine kinase, proton transfer is unlikely to play a major role in the rate-determining step of catalysis. Several of the disease-causing mutations are not sol...

Ngày tải lên: 08/03/2014, 02:20

... modeling to obtain insights into the molecular interactions underlying the observed changes in the mutants’ enzymatic kinetics. Modeling was only applicable to F193A because inter- pretation of ... into the evolution of the molecular sites involved in the two modes of aglycone binding. The amino acid sequence of Zm-p60.1 was com- pared with the sequences of 22 other members of...

Ngày tải lên: 16/03/2014, 04:20

... DNA-binding protein of the ferritin family 563 nt 20 052 Da Contains domains typical of the ferritin-like superfamily, such as: DNA-binding ferritin- like protein, ferritins and bacterioferritins Putative ... of domain 1 on DNAÆprotein interaction and of domain 2 in the protein dimerization and metal binding (see the Discussion). There are important differences between DmdR1 and Dmd...

Ngày tải lên: 16/03/2014, 18:20

... during purification. Kinetic analysis of disease-causing mutations The steady-state kinetic parameters of each of the nine disease-causing mutant proteins were determined (Table 1). In general, little ... recombinant human GALE can be produced in good yields in E. coli. This enabled the creation and analysis of all nine currently known disease-causing mutations i...

Ngày tải lên: 23/03/2014, 11:20

... of the domains occurs in several different ways, suggesting that the evolution of these proteins probably involved multiple gene duplication, gene fusion and domain swapping events. Members of ... over 12 min at a flow rate of 1mLÆmin )1 . Quantification was by integration of peak areas using breeze software (Waters, Milford, MA, USA). The MCE activity was determined over a range o...

Ngày tải lên: 23/03/2014, 13:20

... but weakly in the intestine. Scale bars: 100 lm. (B) In vitro enzymatic assays of three uridine kinase homologs using analytical HPLC. No proteins exhibited uridine kinase activity when uridine was ... 5-FU function (Fig. 4). Interestingly, C29F7.3 shows amino acid similarity to human uridine kinase, UMPK, and UDPK. Uridine kinases are downstream of UP in the pyrimidine salvage pa...

Ngày tải lên: 30/03/2014, 01:20