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https://www.readbyqxmd.com/read/28454448/gnaq-mutation-r183q-as-a-potential-cause-of-familial-sturge-weber-syndrome-a-case-report
#1
Zhengyi Huang, Yuchi Li, Zengxia Zhao, Jun Hu, Xiaoxin Tong, Xuhui Chen, Shuyun Liu, Xiaonan Xu, Yongjun Tao, Tingting Wang, Xin Cheng, Yangyang Dai, Yaoting Gui, Jun Wu
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder whose etiology remains unclear. To investigate the genetic contribution underlying this disease, the genetic variants of a 4-generation family with a history of SWS was analyzed in the present study. SWS was diagnosed in 3 of the family members (II-1, III-11 and IV-6). Sanger sequencing was performed to identify mutations in G protein subunit αq (GNAQ) and RAS p21 protein activator 1 exons in the 3 patients with SWS and other unaffected family members...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454312/treatment-with-a-selenium-platinum-compound-induced-t-cell-acute-lymphoblastic-leukemia-lymphoma-cells-apoptosis-through-the-mitochondrial-signaling-pathway
#2
Feifei Wu, Wei Cao, Huaping Xu, Mingxia Zhu, Jing Wang, Xiaoyan Ke
T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) is an aggressive hematological disorder that is sensitive to chemotherapy; however, it exhibits frequent relapse rates. Platinum-containing therapeutics are the first-line salvage regimens used in the treatment of relapsed or refractory T-ALL/LBL. The selenium-platinum compound EG-Se/Pt is obtained from the combination of selenium-containing molecules (EG-Se) with cisplatin (CDDP); however, its anticancer properties have been poorly investigated. In the present study, the Cell Counting Kit-8 assay was used to evaluate the inhibitory effect of treatment with EG-Se/Pt on cell viability...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454275/variations-in-the-multimerization-region-of-the-helicobacter-pylori-cytotoxin-caga-affect-virulence
#3
Daiva Ahire, Tricia Alston, Robert Raffaniello
Helicobacter pylori colonizes the human stomach by infecting gastric epithelial cells. It is the primary cause of peptic ulcer disease and gastric cancer (GC). Cytotoxin-associated gene A (CagA) is a virulence factor produced by H. pylori. Strains positive for the CagA protein are associated with more severe gastric diseases. The 3' region of the cagA gene exhibits heterogeneity with respect to tyrosine phosphorylation motifs (EPIYA) and CagA multimerization motifs (CM). CagA proteins are categorized as either Western or Eastern based on EPIYA sequences...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454241/transthyretin-regulates-the-migration-and-invasion-of-jeg-3-cells
#4
Liyun Gong, Lei Zhu, Shuzhen Wang, Zhenyu Zhang
Preeclampsia (PE) is a pregnancy-specific disorder characterized by new-onset hypertension and proteinuria that occurs after 20 weeks of gestation. It involves several organs and continues to be a leading cause of maternal and perinatal morbidity and mortality worldwide. Shallow trophoblast invasion is a common pathological feature of PE. Transthyretin (TTR) is a 56-kDa homotetrameric protein that binds thyroid hormone and retinol binding protein. Dysregulated TTR expression has been found in cases of PE. The aim of the present study was to determine the functional role of TTR in the migration and invasion of JEG-3 choriocarcinoma cells...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28453888/live-imaging-of-extracellular-signal-regulated-kinase-and-protein-kinase-a-activities-during-thrombus-formation-in-mice-expressing-biosensors-based-on-f%C3%A3-rster-resonance-energy-transfer
#5
Takuya Hiratsuka, Takeshi Sano, Hisashi Kato, Naoki Komatsu, Masamichi Imajo, Yuji Kamioka, Kenta Sumiyama, Fumiaki Banno, Toshiyuki Miyata, Michiyuki Matsuda
BACKGROUND: Dynamic features of thrombus formation have been visualized by conventional video wide field microscopy or confocal microscopy in live mouse. However, due to technical limitations precise spatiotemporal regulation of intracellular signaling molecule activities, which have been extensively studied in vitro, remains elusive in vivo. OBJECTIVES: By two-photon excitation microscopy of transgenic mice expressing Förster resonance energy transfer (FRET) biosensors for extracellular signal-regulated kinase (ERK) and protein kinase A (PKA), we visualized ERK and PKA activities during thrombus formation in laser-injured subcutaneous arterioles RESULTS: When a core of densely packed platelets was developed, ERK activity was increased from the basal region close to the injured arterioles...
April 28, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28453785/structural-and-functional-characterization-of-the-pnkp-xrcc4-ligiv-dna-repair-complex
#6
R Daniel Aceytuno, Cortt G Piett, Zahra Havali-Shahriari, Ross A Edwards, Martial Rey, Ruiqiong Ye, Fatima Javed, Shujuan Fang, Rajam Mani, Michael Weinfeld, Michal Hammel, John A Tainer, David C Schriemer, Susan P Lees-Miller, J N Mark Glover
Non-homologous end joining (NHEJ) repairs DNA double strand breaks in non-cycling eukaryotic cells. NHEJ relies on polynucleotide kinase/phosphatase (PNKP), which generates 5΄-phosphate/3΄-hydroxyl DNA termini that are critical for ligation by the NHEJ DNA ligase, LigIV. PNKP and LigIV require the NHEJ scaffolding protein, XRCC4. The PNKP FHA domain binds to the CK2-phosphorylated XRCC4 C-terminal tail, while LigIV uses its tandem BRCT repeats to bind the XRCC4 coiled-coil. Yet, the assembled PNKP-XRCC4-LigIV complex remains uncharacterized...
April 27, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28453683/mobidb-lite-fast-and-highly-specific-consensus-prediction-of-intrinsic-disorder-in-proteins
#7
Marco Necci, Damiano Piovesan, Zsuzsanna Dosztányi, Silvio C E Tosatto
Motivation: Intrinsic disorder (ID) is established as an important feature of protein sequences. Its use in proteome annotation is however hampered by the availability of many methods with similar performance at the single residue level, which have mostly not been optimized to predict long ID regions of size comparable to domains. Results: Here, we have focused on providing a single consensus-based prediction, MobiDB-lite, optimized for highly specific (i.e. few false positive) predictions of long disorder...
May 1, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28453643/early-onset-obesity-unrecognized-first-evidence-for-gnas-mutations-and-methylation-changes
#8
Annette Grüters-Kieslich, Monica Reyes, Amita Sharma, Cem Demirci, Terry J DeClue, Erwin Lankes, Dov Tiosano, Dirk Schnabel, Harald Jüppner
Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type Ia (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type Ib (PHP1B). However, although equivalent biochemical and radiographic findings can be encountered in these related disorders caused by GNAS abnormalities they are considered distinct clinical entities...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28453628/post-transcriptional-regulation-of-fus-and-ews-protein-expression-by-mir-141-during-neural-differentiation
#9
Francesca Svetoni, Elisa De Paola, Piergiorgio La Rosa, Neri Mercatelli, Daniela Caporossi, Claudio Sette, Maria Paola Paronetto
Brain development involves proliferation, migration and specification of neural progenitor cells, culminating in neuronal circuit formation. Mounting evidence indicates that improper regulation of RNA binding proteins (RBPs), including members of the FET (FUS, EWS, TAF15) family, results in defective cortical development and/or neurodegenerative disorders. However, in spite of their physiological relevance, the precise pattern of FET proteins expression in developing neurons is largely unknown. Herein, we found that FUS, EWS and TAF15 expression is differentially regulated during brain development, both in time and in space...
April 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28453257/one-filter-one-sample-and-the-n-and-o-glyco-proteo-me-towards-a-system-to-study-disorders-of-protein-glycosylation
#10
Kirsty Skeene, Matthew Walker, Graham Clarke, Ed Bergstrom, Paul Genever, Daniel Ungar, Jane Thomas-Oates
A method has been developed for release/isolation of O-glycans from glycoproteins in whole cell lysates, for mass spectrometric analysis. Cells are lysed in SDS, which is then exchanged for urea and ammonium bicarbonate in a centrifugal filter, before treating with NH4OH to release O-glycans. Following centrifugation, O-glycans are recovered in the filtrate. Sonication achieves O-glycan release in 1 h. Combining the established protocol for filter-aided N-glycan separation, here optimised for enhanced PNGase F efficiency, with the developed O-glycan release method allows analysis of both N- and O-glycans from one sample, in the same filter unit, from 0...
April 28, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28449558/in-silicomodel-driven-assessment-of-the-effects-of-brain-derived-neurotrophic-factor-deficiency-on-glutamate-and-gamma-aminobutyric-acid-implications-for-understanding-schizophrenia-pathophysiology
#11
Rimjhim Agrawal, Sunil Vasu Kalmady, Ganesan Venkatasubramanian
Objective: Deficient brain-derived neurotrophic factor (BDNF) is one of the important mechanisms underlying the neuroplasticity abnormalities in schizophrenia. Aberration in BDNF signaling pathways directly or circuitously influences neurotransmitters like glutamate and gamma-aminobutyric acid (GABA). For the first time, this study attempts to construct and simulate the BDNF-neurotransmitter network in order to assess the effects of BDNF deficiency on glutamate and GABA. Methods: Using CellDesigner, we modeled BDNF interactions with calcium influx via N-methyl-D-aspartate receptor (NMDAR)- Calmodulin activation; synthesis of GABA via cell cycle regulators protein kinase B, glycogen synthase kinase and β-catenin; transportation of glutamate and GABA...
May 31, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28449065/a-homozygous-missense-mutation-in-eral1-encoding-a-mitochondrial-rrna-chaperone-causes-perrault-syndrome
#12
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R Waterham, Johannes N Spelbrink, Johan Auwerx, Marcel M Mannens, Riekelt H Houtkooper, Astrid S Plomp
Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. We diagnosed three unrelated females with PS and set out to identify the underlying genetic cause using exome sequencing. We excluded mutations in the known PS genes, but identified a single homozygous mutation in the ERAL1 gene (c.707A>T; p...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448978/quantitative-evaluation-of-brain-stem-atrophy-using-magnetic-resonance-imaging-in-adult-patients-with-alexander-disease
#13
Tomokatsu Yoshida, Rei Yasuda, Ikuko Mizuta, Masanori Nakagawa, Toshiki Mizuno
Brain MRI in adult patients with Alexander disease (AxD) mainly shows atrophy in the medulla oblongata. However, currently there is no quantitative standard for assessing this atrophy. In this study, we quantitatively evaluated the brain stem of AxD patients with glial fibrillary acidic protein (GFAP) mutation using conventional MRI to evaluate its usefulness as an aid to diagnosing AxD in daily clinical practice. Nineteen AxD patients with GFAP mutation were compared with 14 patients negative for GFAP mutation in whom AxD was suspected due to "atrophy of the medulla oblongata...
April 28, 2017: European Neurology
https://www.readbyqxmd.com/read/28448716/phosphorylation-weakens-but-does-not-inhibit-membrane-binding-and-clustering-of-k-ras4b
#14
Si-Yu Zhang, Benjamin Sperlich, Fang-Yi Li, Samy Al-Ayoubi, Hong-Xue Chen, YuFen Zhao, Yan-Mei Li, Katrin Weise, Roland Winter, Yong-Xiang Chen
K-Ras4B is one of the most frequently mutated Ras isoforms in cancers. The signaling activity of K-Ras4B depends on its localization to the plasma membrane (PM), which is mainly mediated by its polybasic farnesylated C-terminus. On top of the constitutive cycles that maintain the PM enrichment of K-Ras4B, conditional phosphorylation at Ser181 located within this motif has been found to be involved in regulating K-Ras4B's cell distribution and signaling activity. However, discordant observations have undermined our understanding of the role this phosphorylation plays...
April 27, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28448599/simulation-of-the-dynamics-of-primary-immunodeficiencies-in-cd4-t-cells
#15
Gabriel N Teku, Mauno Vihinen
Primary immunodeficiencies (PIDs) form a large and heterogeneous group of mainly rare disorders that affect the immune system. T-cell deficiencies account for about one-tenth of PIDs, most of them being monogenic. Apart from genetic and clinical information, lots of other data are available for PID proteins and genes, including functions and interactions. Thus, it is possible to perform systems biology studies on the effects of PIDs on T-cell physiology and response. To achieve this, we reconstructed a T-cell network model based on literature mining and TPPIN, a previously published core T-cell network, and performed semi-quantitative dynamic network simulations on both normal and T-cell PID failure modes...
2017: PloS One
https://www.readbyqxmd.com/read/28448438/antiplatelet-activity-of-a-newly-synthesized-novel-ruthenium-ii-a-potential-role-for-akt-jnk-signaling
#16
Themmila Khamrang, Kuo-Chen Hung, Chih-Hsuan Hsia, Cheng-Ying Hsieh, Marappan Velusamy, Thanasekaran Jayakumar, Joen-Rong Sheu
In oncotherapy, ruthenium complexes are considered as potential alternatives for platinum compounds, and have been proved as promising anticancer drugs with high efficacy and lesser side effects. Platelet activation plays a major role in cancer metastasis and progression. Hence, this study explored the effect of a newly synthesized ruthenium complex, [Ru(η⁶-cymene)(L)Cl]BF₄(TQ5), where L = 4-phenyl-2-pyridin-2-yl-quinazoline), on human platelet activation. TQ5 (3-5 µM) inhibited concentration-dependent collagen-induced platelet aggregation in washed human platelets...
April 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28448401/clinical-significance-of-incidentally-detected-torus-tubarius-calcification
#17
Karen Buch, Rohini N Nadgir, Muhammad Mustafa Qureshi, Al Ozonoff, Osamu Sakai
OBJECTIVES: Calcification of the torus tubarius has been rarely reported in the literature. Histopathologic studies have previously described cases of Eustachian tube calcification and cite an association with increasing patient age. The purpose of this study was to examine the prevalence of torus tubarius calcification and potential clinical significance on an unrestricted patient population using thin-section computed tomography (CT), which has not been previously reported. METHODS: After the institutional review board approval, 1571 consecutive patients who underwent noncontrast head CT between January 2011 and July 2011 were retrospectively reviewed for torus tubarius calcification...
April 26, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28448138/idp-specific-force-field-ff14idpsff-improves-the-conformer-sampling-of-intrinsically-disordered-proteins
#18
Dong Song, Ray Luo, Hai-Feng Chen
Intrinsically disordered proteins (IDPs) or intrinsically disordered regions have not fixed tertiary structure, but play key roles in signal regulation, molecule recognition, and drug target. However it is difficult to study the structure and function of IDPs by traditional experimental methods because of their diverse conformations. Limitations of current generic protein force fields and solvent models were reported in the previous simulations of IDPs. We have also explored to overcome these limitations by developing ff99IDPs and ff14IDPs force fields to correct the dihedral distribution for eight disordered promoting residues often observed in IDPs and found encouraging improvements...
April 27, 2017: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/28448048/time-resolved-electrospray-ionization-hydrogen-deuterium-exchange-mass-spectrometry-for-studying-protein-structure-and-dynamics
#19
Cristina Lento, Shaolong Zhu, Kerene A Brown, Ruth Knox, Peter Liuni, Derek J Wilson
Intrinsically disordered proteins (IDPs) have long been a challenge to structural biologists due to their lack of stable secondary structure elements. Hydrogen-Deuterium Exchange (HDX) measured at rapid time scales is uniquely suited to detect structures and hydrogen bonding networks that are briefly populated, allowing for the characterization of transient conformers in native ensembles. Coupling of HDX to mass spectrometry offers several key advantages, including high sensitivity, low sample consumption and no restriction on protein size...
April 17, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28448044/generation-of-ipsc-derived-human-brain-organoids-to-model-early-neurodevelopmental-disorders
#20
Elke Gabriel, Jay Gopalakrishnan
The restricted availability of suitable in vitro models that can reliably represent complex human brain development is a significant bottleneck that limits the translation of basic brain research into clinical application. While induced pluripotent stem cells (iPSCs) have replaced the ethically questionable human embryonic stem cells, iPSC-based neuronal differentiation studies remain descriptive at the cellular level but fail to adequately provide the details that could be derived from a complex, 3D human brain tissue...
April 14, 2017: Journal of Visualized Experiments: JoVE
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