Abstract：
:Understanding the structural basis for defects in protein function that underlie protein-based genetic diseases is the fundamental requirement for development of therapies. This situation is epitomized by the cystic fibrosis transmembrane conductance regulator (CFTR)-the gene product known to be defective in CF patients-that appears particularly susceptible to misfolding when its biogenesis is hampered by mutations at critical loci. While the primary CF-related defect in CFTR has been localized to deletion of nucleotide binding fold (NBD1) residue Phe508, an increasing number of mutations (now ca. 1,500) are being associated with CF disease of varying severity. Hundreds of these mutations occur in the CFTR transmembrane domain, the site of the protein's chloride channel. This report summarizes our current knowledge on how mutation-dependent misfolding of the CFTR protein is recognized on the cellular level; how specific types of mutations can contribute to the misfolding process; and describes experimental approaches to detecting and elucidating the structural consequences of CF-phenotypic mutations.
journal_name
Biochemistryjournal_title
Biochemistryauthors
Cheung JC,Deber CMdoi
10.1021/bi702209ssubject
Has Abstractpub_date
2008-02-12 00:00:00pages
1465-73issue
6eissn
0006-2960issn
1520-4995journal_volume
47pub_type
杂志文章,评审相关文献
BIOCHEMISTRY文献大全abstract：:DNA polymerase (pol) β is a small eukaryotic DNA polymerase composed of two domains. Each domain contributes an enzymatic activity (DNA synthesis and deoxyribose phosphate lyase) during the repair of simple base lesions. These domains are termed the polymerase and lyase domains, respectively. Pol β has been an excelle...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi500139h
更新日期：2014-05-06 00:00:00
abstract：:Glucocorticoid receptors of wild-type and nti ("increased nuclear transfer") mutant S49.1 mouse lymphoma cells exist in extracts under low-salt conditions predominantly as high molecular weight species (Mr greater than or equal to 300,000). These receptor-hormone complexes are unable to bind to DNA. High salt (300 mM ...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00415a030
更新日期：1988-07-26 00:00:00
abstract：:Kinetics studies of dNTP analogues having pyrophosphate-mimicking β,γ-pCXYp leaving groups with variable X and Y substitution reveal striking differences in the chemical transition-state energy for DNA polymerase β that depend on all aspects of base-pairing configurations, including whether the incoming dNTP is a puri...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi500101z
更新日期：2014-03-25 00:00:00
abstract：:The binding site of the dopamine D2 receptor, like that of other homologous G protein-coupled receptors, is contained within a water-accessible crevice formed among its seven membrane-spanning segments. Using the substituted-cysteine accessibility method, we previously mapped the residues in the third, fifth, and seve...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi972241y
更新日期：1998-01-27 00:00:00
abstract：:The conformations of three peptide models of the one-disulfide and fully reduced forms of apamin were characterized by using nuclear magnetic resonance (NMR) spectroscopy. Apa-2 contains the native disulfide bond between Cys3 and Cys15 in apamin with the other two cysteines replaced by alanines. Apa-1 contains the nat...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00183a031
更新日期：1994-05-03 00:00:00
abstract：:The transglutaminase Factor XIII (FXIII) catalyzes the formation of covalent cross-links between adjacent noncovalently associated fibrin chains in blood coagulation. The resulting covalently cross-linked hard clot is much more mechanically stable and resistant to proteolytic degradation. FXIII is activated by the ser...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi049260+
更新日期：2004-08-03 00:00:00
abstract：:Previous optical and electron paramagnetic resonance (EPR) spectroscopic studies of the newly discovered peroxynitrite scavenging pseudoperoxidase from Leishmania major (LmPP) suggested that ferric LmPP contained a six-coordinate low-spin (6cLS) heme with a thiolate ligand, presumably a cysteine, bound to its heme iro...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi401343t
更新日期：2013-12-10 00:00:00
abstract：:The Type I homodimeric photosynthetic reaction center found in anaerobic gram-positive bacteria of the genus Heliobacteriaceae incorporates FA- and FB-like iron-sulfur clusters similar to those found in Photosystem I as terminal electron acceptors. We recently isolated the PshB protein that harbors the iron-sulfur clu...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi0622165
更新日期：2007-03-06 00:00:00
abstract：:Isolated chloroplasts are capable of synthesizing chloroplast DNA in the presence of Mg2+ and deoxynucleoside triphosphates. The in vitro reaction proceeds for at least 60 min and is inhibited by KC1 and N-ethylmaleimide. Stretches of several hundred nucleotides in length are synthesized within an hour. Little or no i...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00257a014
更新日期：1982-07-06 00:00:00
abstract：:Solvent reorganization can contribute significantly to the energetics of protein-protein interactions. However, our knowledge of the magnitude of the energetic contribution is limited, in part, by a dearth of quantitative experimental measurements. The biotin repressor forms a homodimer as a prerequisite to DNA bindin...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi400952m
更新日期：2013-09-24 00:00:00
abstract：:Aromatic amine dehydrogenase (AADH) is the second enzyme known to possess the tryptophan tryptophylquinone (TTQ) prosthetic group. Its ability to catalyze the oxidative deamination of a wide range of aromatic and aliphatic amines has been investigated. Steady-state and transient kinetic studies of the reaction of AADH...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00003a015
更新日期：1995-01-24 00:00:00
abstract：:The navel orangeworm, Amyelois transitella (Walker), is an agricultural insect pest that can be controlled by disrupting male-female communication with sex pheromones, a technique known as mating disruption. Insect pheromone-binding proteins (PBPs) provide fast transport of hydrophobic pheromones through the aqueous s...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi9020132
更新日期：2010-02-23 00:00:00
abstract：:The O-linked protein glycosylation pathway in Neisseria gonorrhoeae is responsible for the synthesis of a complex oligosaccharide on undecaprenyl diphosphate and subsequent en bloc transfer of the glycan to serine residues of select periplasmic proteins. Protein glycosylation (pgl) genes have been annotated on the bas...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi2003372
更新日期：2011-06-07 00:00:00
abstract：:Human neutrophil cathepsin G or bovine chymotrypsin proteolytically cleaved human alpha-thrombin at the B-chain Trp148-Thr149 bond generating a new form, zeta-thrombin. While incubation of alpha-thrombin with cathepsin G at pH 7.4 and 37 degrees C resulted in a partial loss of fibrinogen clotting activity, 86 +/- 13% ...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00466a017
更新日期：1990-04-10 00:00:00
abstract：:Oxygen and nitroaromatic compounds are known to enhance the sensitivity of cells to ionizing radiation. Employing calf thymus DNA and oligo(dA)12/poly(dT), we have examined the differences to DNA damage, in particular thymine glycols and the 3'-DNA termini at strand breaks, arising from irradiation under anoxic and ox...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00060a009
更新日期：1993-03-09 00:00:00
abstract：:Copper, zinc superoxide dismutase is a dimeric enzyme, and it has been shown that no cooperativity between the two subunits of the dimer is operative. The substitution of two hydrophobic residues, Phe 50 and Gly 51, with two Glu's at the interface region has disrupted the quaternary structure of the protein, thus prod...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi9803473
更新日期：1998-08-25 00:00:00
abstract：:Acetylcholinesterase (AChE) contains a narrow and deep active site gorge with two sites of ligand binding, an acylation site (or A-site) at the base of the gorge and a peripheral site (or P-site) near the gorge entrance. The P-site contributes to catalytic efficiency by transiently binding substrates on their way to t...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi8015197
更新日期：2008-12-09 00:00:00
abstract：:We found that recombinant human adult hemoglobin (rHb A) expressed in Escherichia coli showed heterogeneity of components with the intensity of a positive CD band at 260 nm and that it could be resolved into three components (SP-1, SP-2, and SP-3) by SP-Sepharose column chromatography. 1H NMR revealed that SP-1 is ide...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi7015519
更新日期：2008-01-15 00:00:00
abstract：:We have determined the structures of three novel oligosaccharides isolated from human milk using the monoclonal antibody MSW 113. These oligosaccharides were purified by affinity chromatography on a column of the immobilized monoclonal antibody and by high-performance liquid chromatography. From the results of 500-MHz...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00448a031
更新日期：1989-10-31 00:00:00
abstract：:We have previously shown functional differences in fibrinogen from hyperhomocysteinemic rabbits compared to that in control rabbits. This acquired dysfibrinogenemia is characterized by fibrin clots that are composed of abnormally thin, tightly packed fibers with increased resistance to fibrinolysis. Homocysteine thiol...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi052076j
更新日期：2006-02-28 00:00:00
abstract：:The binding of bleomycin to DNA in the presence and absence of ferric iron was measured by fluorescence spectroscopy. In millimolar concentrations of tris(hydroxymethyl)aminomethane, pH 7.5, approximately 80% of the bleomycin binds to DNA. Ferric iron seems to have no significant effect on the binding of DNA to bleomy...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00531a021
更新日期：1982-01-19 00:00:00
abstract：:The structures of hemes a and a3 of maize and wheat germ cytochrome c oxidase were investigated by resonance Raman spectroscopy. Comparison between the plant and mammalian cytochrome oxidases revealed that (i) the vinyl groups associated with hemes a and a3 vibrate at higher frequencies in the plant enzyme than in the...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00489a028
更新日期：1990-09-18 00:00:00
abstract：:We have determined the fidelity of in vitro DNA synthesis catalyzed at high temperature by the DNA polymerase from the thermophilic bacterium Thermus aquaticus. Using a DNA substrate that contains a 3'-OH terminal mismatch, we demonstrate that the purified polymerase lacks detectable exonucleolytic proofreading activi...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00416a027
更新日期：1988-08-09 00:00:00
abstract：:Transporters from the SLC13 family couple the transport of two to four Na+ ions with a di- or tricarboxylate, such as succinate or citrate. We have previously modeled mammalian members of the SLC13 family, including the Na+/dicarboxylate cotransporter NaDC1 (SLC13A2), based on a structure of the bacterial homologue Vc...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/acs.biochem.7b00503
更新日期：2017-08-22 00:00:00
abstract：:Interaction of the peptide antibiotic alamethicin with phospholipid vesicles has been monitored by changes in its circular dichroic and fluorescent properties. The data are consistent with an incorporation of the peptide in the lipid bilayer. Aggregation of alamethicin in the membrane phase is evident from a character...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00384a015
更新日期：1987-05-19 00:00:00
abstract：:Intracellular retinoid-binding proteins are small, tightly folded, compact proteins, which appear to be involved in the delivery of retinoids to microsomal metabolic enzymes, among other potential roles. Recently, it has been demonstrated that two of these binding proteins, cellular retinol-binding protein (CRBP) and ...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00176a017
更新日期：1994-03-15 00:00:00
abstract：:Frequency-resolved fluorescence measurements have been performed to quantitate the lateral stress of the lipid layer containing nonbilayer phase preferring dioleoylphosphatidylethanolamine (DOPE). On the basis of a new rotational diffusion model, the wobbling diffusion constant (Dw), the curvature-related hopping diff...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi00130a005
更新日期：1992-04-21 00:00:00
abstract：:Aureochromes have recently been shown to act as blue-light-regulated transcription factors in the stramenopile alga Vaucheria frigida. They comprise a light-, oxygen-, or voltage-sensitive (LOV) domain as a sensory module with flavin mononucleotide (FMN) as a chromophore and a basic region leucine zipper (bZIP) domain...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi400197u
更新日期：2013-05-07 00:00:00
abstract：:Tandem DNA lesions containing two contiguously damaged nucleotides are commonly formed by ionizing radiation. Their effects on replication in mammalian cells are largely unknown. Replication of isolated 2-deoxyribonolactone (L), thymine glycol (Tg), and tandem lesion 5'-LTg was examined in human cells. Although nearly...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/acs.biochem.9b01058
更新日期：2020-02-04 00:00:00
abstract：:The reduction of CBrCl3 by the heme-heme oxygenase complex forms dissociable and covalently bound heme products. No such products are formed with mesoheme in which the heme vinyl substituents are replaced by ethyl groups. The dissociable heme products are chromatographically similar but not identical to those obtained...
journal_title：Biochemistry
pub_type： 杂志文章
doi：10.1021/bi972720x
更新日期：1998-03-03 00:00:00
