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49603

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Majed J Dasouki et al.
Blood, 122(20), 3440-3449 (2013-10-03)
We recently identified 2 siblings afflicted with idiopathic, autosomal recessive aplastic anemia. Whole-exome sequencing identified a novel homozygous missense mutation in thrombopoietin (THPO, c.112C>T) in both affected siblings. This mutation encodes an arginine to cysteine substitution at residue 38 or
Mark G Jones et al.
Clinica chimica acta; international journal of clinical chemistry, 361(1-2), 150-158 (2005-07-05)
Previous work by others have suggested the occurrence of one or more chemical or metabolic 'markers' for ME/CFS including specific amino acids and organic acids and a number of unidentified compounds (CFSUM1, CFSUM2). We have shown elsewhere that CFSUM1 is
F Rousaud et al.
Archivos espanoles de urologia, 54(9), 989-996 (2002-01-16)
Cystine renal stone is the only clinical consequence of cystinuria, an autosomal recessive hereditary disease that affects an average of 1 out of 7,000 newborns, and whose geographical distribution varies significantly. The diagnosis and treatment of this condition is reviewed
Orna Avsian-Kretchmer et al.
Molecular endocrinology (Baltimore, Md.), 18(1), 1-12 (2003-10-04)
TGF-beta family proteins with a cystine knot motif serve as ligands for diverse families of plasma membrane receptors. Bone morphogenetic protein (BMP) antagonists represent a subgroup of these proteins, some of which bind BMPs and antagonize their actions during development
Tine N Vinther et al.
Protein science : a publication of the Protein Society, 22(3), 296-305 (2013-01-03)
Insulin is a key hormone controlling glucose homeostasis. All known vertebrate insulin analogs have a classical structure with three 100% conserved disulfide bonds that are essential for structural stability and thus the function of insulin. It might be hypothesized that
Bulent Onal et al.
The Journal of urology, 190(1), 234-237 (2013-01-15)
We determined the effectiveness of percutaneous nephrolithotomy in children with cystine stones and present the long-term outcomes. We reviewed the data of 65 renal units in 51 children who underwent percutaneous nephrolithotomy for cystine stones between 2000 and 2012. Of
Mehdi Irani et al.
Biochemistry, 52(7), 1280-1289 (2013-01-22)
Molecular dynamics simulations have been performed on lipase B from Candida antarctica (CalB) in its native form and with one or two oxidized residues, either methionine oxidized to methionine sulfoxide, tryptophan oxidized to 5-hydroxytryptophan, or cystine oxidized to a pair
Pegah Saremirad et al.
Journal of chromatography. A, 1370, 147-155 (2014-12-03)
Size exclusion chromatography has been demonstrated as an effective method for refolding a variety of proteins. However, to date process development mainly relies on laboratory experimentation of individual factors. A robust model is essential for high-throughput process screening and optimization
Julie C Lim et al.
Experimental eye research, 116, 219-226 (2013-09-24)
In this study we have sought to identify whether cystine uptake mechanisms previously identified in the rat lens are also found in the human lens. Using a combination of reverse transcriptase PCR, Western blotting and immunohistochemistry, we show that the
Renal Transport of Organic Substances (2012)
K J Bär et al.
Neurobiology of aging, 24(2), 333-338 (2002-12-25)
Increasing evidence suggests an interaction of oxidative stress and the formation of advanced glycation end products (AGE) in the onset and progression of Alzheimer's disease. We studied levels of pentosidine and N(epsilon)-(carboxymethyl)-lysine (CML) in serum and cerebrospinal fluid (CSF) of
K Sakhaee
Seminars in nephrology, 16(5), 435-447 (1996-09-01)
Cystinuria is an inheritable disorder of amino acid transport, transmitted as an autosomal recessive trait, Cystinuria is caused by defective transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and intestinal tract. Cystine stones
Liyun Zhang et al.
Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry, 18(2), 277-286 (2013-01-24)
The purpose of this work is to characterize the interactions of two disulfide-constrained cyclic tetrapeptides [c(Ac-Cys-Pro-Phe-Cys-NH(2)), SS1; c(Ac-Cys-Pro-Gly-Cys-NH(2)), SS2] with Cu(2+) ions in order to facilitate the design of cyclic peptides as sensors for metal ions. The Cu(2+)-peptide complex cations
Beatrice Bocca et al.
Annali dell'Istituto superiore di sanita, 41(2), 197-203 (2005-10-26)
The haematic concentration of 26 metals and the oxidative damage in 60 patients (20 males and 40 females) affected by Alzheimer's disease and 44 healthy individuals (33 males and 11 females) were compared. In patients, the following significant (p <
Young-Mi Go et al.
Critical reviews in biochemistry and molecular biology, 48(2), 173-181 (2013-01-30)
Rapid advances in redox systems biology are creating new opportunities to understand complexities of human disease and contributions of environmental exposures. New understanding of thiol-disulfide systems have occurred during the past decade as a consequence of the discoveries that thiol
Hanne Sørup Tastesen et al.
PloS one, 9(11), e112859-e112859 (2014-11-13)
Low-protein and high-protein diets regulate energy metabolism in animals and humans. To evaluate whether different dietary protein sources modulate energy balance when ingested at average levels obesity-prone male C57BL/6J mice were pair-fed high-fat diets (67 energy percent fat, 18 energy
Anne C Conibear et al.
The Journal of biological chemistry, 288(15), 10830-10840 (2013-02-23)
θ-Defensins are ribosomally synthesized cyclic peptides found in the leukocytes of some primate species and have promising applications as antimicrobial agents and scaffolds for peptide drugs. The cyclic cystine ladder motif, comprising a cyclic peptide backbone and three parallel disulfide
Hanayo Ueoka-Nakanishi et al.
The FEBS journal, 280(14), 3220-3231 (2013-04-26)
Thioredoxin (Trx) is a key player in redox homeostasis in various cells, modulating the functions of target proteins by catalyzing a thiol-disulfide exchange reaction. Target proteins of cytosolic Trx-h of higher plants were studied, particularly in the plasma membrane, because
Yaoqing Diana Liu et al.
Protein science : a publication of the Protein Society, 23(12), 1753-1764 (2014-09-30)
Human IgG2 consists of disulfide-mediated structural isoforms, classified by the number of Fab arms disulfide-linked to the heavy chain hinge. In the IgG2-B isoform, both Fab arms are linked to the hinge region, and in IgG2-A, neither Fab arm are
P A LeWitt et al.
Neurology, 42(11), 2111-2117 (1992-11-01)
We used two analytic methods (a multichannel coulometric electrode array with high-performance liquid chromatography, and gas chromatography-mass spectrophotometry) to measure CSF dopamine (DA) and its metabolites in mildly affected, unmedicated subjects with Parkinson's disease (PD). The mean (+/- SD) concentration
Aubérie Parent et al.
Nature communications, 6, 5686-5686 (2015-01-20)
Friedreich's ataxia is a severe neurodegenerative disease caused by the decreased expression of frataxin, a mitochondrial protein that stimulates iron-sulfur (Fe-S) cluster biogenesis. In mammals, the primary steps of Fe-S cluster assembly are performed by the NFS1-ISD11-ISCU complex via the
M Naoi et al.
Mechanisms of ageing and development, 111(2-3), 175-188 (2000-02-03)
Dopamine neurons in the substantia nigra of human brain are selectively vulnerable and the number decline by aging at 5-10% per decade. Enzymatic and non-enzymatic oxidation of dopamine generates reactive oxygen species, which induces apoptotic cell death in dopamine neurons.
Kevin Guo et al.
Analytical chemistry, 81(10), 3919-3932 (2009-03-25)
We report a new quantitative metabolome profiling technique based on differential (12)C-/(13)C-isotope dansylation labeling of metabolites, fast liquid chromatography (LC) separation and electrospray ionization Fourier-transform ion cyclotron resonance mass spectrometry (ESI-FTICR MS) detection. An isotope reagent, (13)C-dansyl chloride, can be
S Engelborghs et al.
Neurochemical research, 28(8), 1145-1150 (2003-07-02)
To study changes in amino acid metabolism and biogenic amines in Parkinson's disease, we set up a prospective study and measured biogenic amines, their main metabolites, and 22 different amino acids, in cerebrospinal fluid of Parkinson's disease patients (n =
Zhimin Feng et al.
The FEBS journal, 280(14), 3365-3375 (2013-05-11)
Previously, we reported that human β-defensin (hBD)-3 can both antagonize CXCR4 function on T cells and promote receptor internalization in the absence of activation. In the present study, we explored the important structural elements of hBD-3 that are involved in
G Shanker et al.
Journal of neuroscience research, 66(5), 998-1002 (2001-12-18)
Maintenance of appropriate intracellular glutathione (GSH) levels is crucial for cellular defense against oxidative damage. A suggested mechanism of methylmercury (MeHg) neurotoxicity implicates the involvement of oxygen radical formation and a decrease in cellular levels of GSH. Astrocytes play an
Y Miura
The Kurume medical journal, 47(4), 267-272 (2001-02-24)
Plasma beta-phenylethylamine (PEA) levels were determined in 27 patients with Parkinson's disease (PD) in order to evaluate its relation with the severity or clinical course of PD. The plasma PEA concentrations in PD patients were significantly lower (mean +/- SD
Tian Wang et al.
Journal of pharmaceutical and biomedical analysis, 102, 519-528 (2014-12-03)
Disulfide reduction in therapeutic monoclonal antibodies can occur during cell harvest operations as a result of cell breakage. Understanding these product quality changes and manufacturers' ability to control them would likely be of concern to regulatory bodies. To study the
Monika Stegmann et al.
European journal of immunology, 43(1), 15-21 (2012-12-13)
Selected disulfide bonds in membrane proteins are labile and are thus susceptible to changes in redox potential and/or the presence of thiol isomerase enzymes. Modification of these disulfide bonds can lead to conformational changes of the protein that in turn
Arisa Higa et al.
Molecular and cellular biology, 34(10), 1839-1849 (2014-03-19)
ATF6α, a membrane-anchored transcription factor from the endoplasmic reticulum (ER) that modulates the cellular response to stress as an effector of the unfolded-protein response (UPR), is a key player in the development of tumors of different origin. ATF6α activation has
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