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https://www.readbyqxmd.com/read/28327546/missense-mutations-near-the-n-glycosylation-site-of-the-a2-domain-lead-to-various-intracellular-trafficking-defects-in-coagulation-factor-viii
#1
Wei Wei, Chunlei Zheng, Min Zhu, Xiaofan Zhu, Renchi Yang, Saurav Misra, Bin Zhang
Missense mutation is the most common mutation type in hemophilia. However, the majority of missense mutations remain uncharacterized. Here we characterize how hemophilia mutations near the unused N-glycosylation site of the A2 domain (N582) of FVIII affect protein conformation and intracellular trafficking. N582 is located in the middle of a short 310-helical turn (D580-S584), in which most amino acids have multiple hemophilia mutations. All 14 missense mutations found in this 310-helix reduced secretion levels of the A2 domain and full-length FVIII...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28326486/genetic-characterization-of-porcine-circovirus-type-2-in-captive-wild-boars-in-southern-brazil
#2
José Paulo Hiroji Sato, Danielle Gava, Rejane Schaefer, Maurício Egídio Cantão, Janice Reis Ciacci-Zanella, David Emilio Santos Neves de Barcellos
Porcine circovirus type 2 (PCV2) has been identified in pig population in Brazil since 2000, but scarce studies involving wild boars with PCV2 infection are reported in the country. This study aimed to perform the genetic characterization of PCV2 detected in clinically healthy captive wild boars from farms located in Southern Brazil. Bronchial and mesenteric lymph nodes from 129 clinically healthy captive wild boars were tested by nested PCR for PCV2 detection. Six out of 38 positive samples (29.5%) were submitted to a quantitative real time PCR (qPCR) and genetic sequencing...
March 22, 2017: Tropical Animal Health and Production
https://www.readbyqxmd.com/read/28326090/vaerd15-a-transcription-factor-gene-associated-with-cold-tolerance-in-chinese-wild-vitis-amurensis
#3
Dongdong Yu, Lihua Zhang, Kai Zhao, Ruxuan Niu, Huan Zhai, Jianxia Zhang
Early responsive to dehydration (ERD) genes can be rapidly induced to counteract abiotic stresses, such as drought, low temperatures or high salinities. Here, we report on an ERD gene (VaERD15) related to cold tolerance from Chinese wild Vitis amurensis accession 'Heilongjiang seedling'. The full-length VaERD15 cDNA is 685 bp, including a 66 bp 5'-untranslated region (UTR), a 196 bp 3'-UTR region and a 423 bp open reading frame encoding 140 amino acids. The VaERD15 protein shares a high amino acid sequence similarity with ERD15 of Arabidopsis thaliana...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28323243/proteomics-of-facs-sorted-heterogeneous-corynebacterium-glutamicum-populations
#4
Andreas Harst, Stefan P Albaum, Tanja Bojarzyn, Christian Trötschel, Ansgar Poetsch
The metabolic status of individual cells in microbial cultures can differ, being relevant for biotechnology, environmental and medical microbiology. However, it is hardly understood in molecular detail due to limitations of current analytical tools. Here, we demonstrate that FACS in combination with proteomics can be used to sort and analyze cell populations based on their metabolic state. A previously established GFP reporter system was used to detect and sort single Corynebacterium glutamicum cells based on the concentration of branched chain amino acids (BCAA) using FACS...
March 17, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28320860/microtubule-plus-end-tracking-of-end-binding-protein-1-eb1-is-regulated-by-cdk5-regulatory-subunit-associated-protein-2
#5
Ka-Wing Fong, Franco K C Au, Yue Jia, Shaozhong Yang, Liying Zhou, Robert Z Qi
Microtubules are polar cytoskeleton filaments that extend via growth at their plus ends. Microtubule plus-end-tracking proteins (+TIPs) accumulate at these growing plus ends to control microtubule dynamics and attachment. The +TIP end-binding protein 1 (EB1) and its homologs possess an autonomous plus-end-tracking mechanism and interact with other known +TIPs, which then recruit those +TIPs to the growing plus ends. A major +TIP class contains the SxIP (Ser-x-Ile-Pro, with x denoting any amino acid residue) motif, known to interact with EB1 and its homologs for plus-end tracking, but the role of SxIP in regulating EB1 activities is unclear...
March 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28320779/the-g2385r-risk-factor-for-parkinson-s-disease-enhances-chip-dependent-intracellular-degradation-of-lrrk2
#6
Iakov N Rudenko, Alice Kaganovich, Rebekah G Langston, Aleksandra Beilina, Kelechi Ndukwe, Ravindran Kumaran, Allissa A Dillman, Ruth Chia, Mark R Cookson
Autosomal dominant mutations in leucine-rich repeat kinase 2 ( LRRK2 ) are associated with Parkinson's disease (PD). Most pathogenic LRRK2 mutations result in amino-acid substitutions in the central ROC-COR-Kinase triple domain and affect enzymatic functions of the protein. However, there are several variants in LRRK2 , including the risk factor G2385R, that impact PD pathogenesis by unknown mechanisms. Previously, we have shown that G2385R LRRK2 has decreased kinase activity in vitro and altered affinity to LRRK2 interactors...
March 20, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28320302/high-level-soluble-expression-and-atpase-characterization-of-human-heat-shock-protein-grp78
#7
Shuang Wu, Hongpeng Zhang, Miao Luo, Ke Chen, Wei Yang, Lei Bai, Ailong Huang, Deqiang Wang
Human GRP78 has been shown to promote cancer progression and is regarded as a novel target for anticancer drugs. However, generation of recombinant full-length GRP78 remains challenging. This report demonstrates that E. coli autoinduction is an excellent method for the preparation of active recombinant GRP78 protein. The final yield was approximately 50 mg/liter of autoinduction culture. Gel-filtration experiments confirmed that the chaperone is a monomer. The purified human GRP78 catalyzed the conversion of ATP to ADP without requiring metal ions as cofactors...
February 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/28320286/functioning-of-yeast-pma1-h-atpase-under-changing-charge-role-of-asp739-and-arg811-residues
#8
V V Petrov
The plasma membrane Pma1 H+-ATPase of the yeast Saccharomyces cerevisiae contains conserved residue Asp739 located at the interface of transmembrane segment M6 and the cytosol. Its replacement by Asn or Val (Petrov et al. (2000) J. Biol. Chem., 275, 15709-15716) or by Ala (Miranda et al. (2011) Biochim. Biophys. Acta, 1808, 1781-1789) caused complete blockage of biogenesis of the enzyme, which did not reach secretory vesicles. It was proposed that a strong ionic bond (salt bridge) could be formed between this residue and positively charged residue(s) in close proximity, and the replacement D739A disrupted this bond...
January 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/28315637/trpm4-non-selective-cation-channel-variants-in-long-qt-syndrome
#9
Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard, Patrice Bouvagnet
BACKGROUND: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not all LQTS patients have an identified mutation, which suggests LQTS unknown genes. METHODS: A cohort of 178 LQTS patients, with no mutations in the 3 major LQTS genes (KCNQ1, KCNH2, and SCN5A), was screened for mutations in the transient potential melastatin 4 gene (TRPM4)...
March 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28315353/crystal-structure-of-the-extracellular-domain-of-the-human-dendritic-cell-surface-marker-cd83
#10
Christiane S Heilingloh, Stefan Klingl, Claudia Egerer-Sieber, Benedikt Schmid, Sigrid Weiler, Petra Mühl-Zürbes, Jörg Hofmann, Joachim D Stump, Heinrich Sticht, Mirko Kummer, Alexander Steinkasserer, Yves A Muller
CD83 is a type-I membrane protein and an efficient marker for identifying mature dendritic cells. Whereas membrane-bound full-length CD83 co-stimulates the immune system, a soluble variant (sCD83), consisting of the extracellular domain, only, displays strong immune-suppressive activities. Besides a prediction that sCD83 adopts a V-set Ig-like fold, however, little is known about the molecular architecture of CD83 and the mechanism by which CD83 exerts is function on dendritic cells and additional immune cells...
March 14, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28304185/modulation-of-transcription-factor-binding-and-epigenetic-regulation-of-the-mlh1-cpg-island-and-shore-by-polymorphism-rs1800734-in-colorectal-cancer
#11
Andrea J Savio, Bharati Bapat
The MLH1 promoter polymorphism rs1800734 is associated with MLH1 CpG island hypermethylation and expression loss in colorectal cancer (CRC). Conversely, variant rs1800734 is associated with MLH1 shore, but not island, hypomethylation in peripheral blood mononuclear cell DNA. To explore these distinct patterns, MLH1 CpG island and shore methylation was assessed in CRC cell lines stratified by rs1800734 genotype. Cell lines containing the variant A allele demonstrated MLH1 shore hypomethylation compared to wild type (GG)...
March 17, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28303916/copper-transporters-are-responsible-for-copper-isotopic-fractionation-in-eukaryotic-cells
#12
Jean-Loup Cadiou, Sylvain Pichat, Victor P Bondanese, Alexandre Soulard, Toshiyuki Fujii, Francis Albarède, Philippe Oger
Copper isotopic composition is altered in cancerous compared to healthy tissues. However, the rationale for this difference is yet unknown. As a model of Cu isotopic fractionation, we monitored Cu uptake in Saccharomyces cerevisiae, whose Cu import is similar to human. Wild type cells are enriched in (63)Cu relative to (65)Cu. Likewise, (63)Cu isotope enrichment in cells without high-affinity Cu transporters is of slightly lower magnitude. In cells with compromised Cu reductase activity, however, no isotope fractionation is observed and when Cu is provided solely in reduced form for this strain, copper is enriched in (63)Cu like in the case of the wild type...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28302170/identification-of-residues-important-for-the-activity-of-aldehyde-deformylating-oxygenase-through-investigation-into-the-structure-activity-relationship
#13
Qing Wang, Luyao Bao, Chenjun Jia, Mei Li, Jian-Jun Li, Xuefeng Lu
BACKGROUND: Aldehyde-deformylating oxygenase (ADO) is a key enzyme involved in the biosynthetic pathway of fatty alk(a/e)nes in cyanobacteria. However, cADO (cyanobacterial ADO) showed extreme low activity with the k cat value below 1 min(-1), which would limit its application in biofuel production. To identify the activity related key residues of cADO is urgently required. RESULTS: The amino acid residues which might affect cADO activity were identified based on the crystal structures and sequence alignment of cADOs, including the residues close to the di-iron center (Tyr39, Arg62, Gln110, Tyr122, Asp143 of cADO-1593), the protein surface (Trp 178 of cADO-1593), and those involved in two important hydrogen bonds (Gln49, Asn123 of cADO-1593, and Asp49, Asn123 of cADO-sll0208) and in the oligopeptide whose conformation changed in the absence of the di-iron center (Leu146, Asn149, Phe150 of cADO-1593, and Thr146, Leu148, Tyr150 of cADO-sll0208)...
March 16, 2017: BMC Biotechnology
https://www.readbyqxmd.com/read/28300777/functional-contributions-of-positive-charges-in-the-pore-lining-helix-3-of-the-bordetella-pertussis-cyaa-hemolysin-to-hemolytic-activity-and-ion-channel-opening
#14
Chattip Kurehong, Chalermpol Kanchanawarin, Busaba Powthongchin, Panchika Prangkio, Gerd Katzenmeier, Chanan Angsuthanasombat
The Bordetella pertussis CyaA-hemolysin (CyaA-Hly) domain was previously demonstrated to be an important determinant for hemolysis against target erythrocytes and ion-channel formation in planar lipid bilayers (PLBs). Here, net-charge variations in the pore-lining helix of thirteen related RTX cytolysins including CyaA-Hly were revealed by amino acid sequence alignments, reflecting their different degrees of hemolytic activity. To analyze possible functional effects of net-charge alterations on hemolytic activity and channel formation of CyaA-Hly, specific mutations were made at Gln(574) or Glu(581) in its pore-lining α3 of which both residues are highly conserved Lys in the three highly active RTX cytolysins (i...
March 16, 2017: Toxins
https://www.readbyqxmd.com/read/28299937/non-covalent-protein-and-peptide-functionalization-of-single-walled-carbon-nanotubes-for-bio-delivery-and-optical-sensing-applications
#15
Alessandra Antonucci, Justyna Kupis-Rozmyslowicz, Ardemis Boghossian
The exquisite structural and optical characteristics of single-walled carbon nanotubes (SWCNTs), combined with the tunable specificities of proteins and peptides, can be exploited to strongly benefit technologies with applications in fields ranging from biomedicine to industrial biocatalysis. The key to exploiting the synergism of these materials is designing protein/peptide-SWCNT conjugation schemes that preserve biomolecule activity while keeping the near-infrared optical and electronic properties of SWCNTs intact...
March 16, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28298490/aberrant-caveolin-1-mediated-smad-signaling-and-proliferation-identified-by-analysis-of-adenine-474-deletion-mutation-c-474dela-in-patient-fibroblasts-a-new-perspective-in-the-mechanism-of-pulmonary-hypertension
#16
Glenn Marsboom, Zhenlong Chen, Yang Yuan, Yanmin Zhang, Chinnaswamy Tiruppathi, James E Loyd, Eric D Austin, Roberto F Machado, Richard D Minshall, Jalees Rehman, Asrar B Malik
A heterozygous Caveolin-1 c.474delA mutation has been identified in a family with heritable pulmonary arterial hypertension (PAH). This frameshift mutation leads to caveolin-1 protein that contains all known functional domains but has a change only in the final 20 amino acids of the C terminus. Here we studied how this mutation alters caveolin-1 function using patient-derived fibroblasts. Transmission electron microscopy showed that fibroblasts carrying the c.474delA mutation formed typical caveolae. Expression of mutated caveolin-1 in caveolin-1-null mouse fibroblasts failed to induce formation of caveolae due to retention of the mutated protein in the endoplasmic reticulum...
March 15, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28296894/impact-of-genetic-variation-on-three-dimensional-structure-and-function-of-proteins
#17
Roshni Bhattacharya, Peter W Rose, Stephen K Burley, Andreas Prlić
The Protein Data Bank (PDB; http://wwpdb.org) was established in 1971 as the first open access digital data resource in biology with seven protein structures as its initial holdings. The global PDB archive now contains more than 126,000 experimentally determined atomic level three-dimensional (3D) structures of biological macromolecules (proteins, DNA, RNA), all of which are freely accessible via the Internet. Knowledge of the 3D structure of the gene product can help in understanding its function and role in disease...
2017: PloS One
https://www.readbyqxmd.com/read/28295039/deciphering-the-mechanism-of-q145h-sftpc-mutation-unmasks-a-splicing-defect-and-explains-the-severity-of-the-phenotype
#18
Céline Delestrain, Stéphanie Simon, Abdel Aissat, Rachel Medina, Xavier Decrouy, Elodie Nattes, Agathe Tarze, Bruno Costes, Pascale Fanen, Ralph Epaud
Mutations in the gene encoding surfactant protein C (SFTPC) have led to a broad range of phenotypes from neonatal respiratory distress syndrome to adult interstitial lung disease. We previously identified the c.435G>C variant in the SFTPC gene associated with fatal neonatal respiratory distress syndrome in an infant girl. Although this variation is predicted to change glutamine (Q) at position 145 to histidine (H), its position at the last base of exon 4 and the severity of the phenotype suggested that it might also induce a splicing defect...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28294126/highly-pathogenic-h5n6-influenza-a-viruses-recovered-from-wild-birds-in-guangdong-southern-china-2014-2015
#19
Yinfeng Kang, Lu Liu, Minsha Feng, Runyu Yuan, Can Huang, Yangtong Tan, Pei Gao, Dan Xiang, Xiaqiong Zhao, Yanling Li, David M Irwin, Yongyi Shen, Tao Ren
Since 2013, highly pathogenic (HP) H5N6 influenza A viruses (IAVs) have emerged in poultry in Asia, especially Southeast Asia. These viruses have also caused sporadic infections in humans within the same geographic areas. Active IAV surveillance in wild birds sampled in Guangdong province, China from August 2014 through February 2015 resulted in the recovery of three H5N6 IAVs. These H5N6 IAV isolates possess the basic amino acid motif at the HA1-HA2 cleavage site that is associated with highly pathogenic IAVs infecting chickens...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28292631/probing-the-activity-of-nthl1-orthologs-by-targeting-conserved-amino-acid-residues
#20
Susan M Robey-Bond, Meredith A Benson, Ramiro Barrantes-Reynolds, Jeffrey P Bond, Susan S Wallace
The base excision repair DNA glycosylases, EcoNth and hNTHL1, are homologous, with reported overlapping yet different substrate specificities. The catalytic amino acid residues are known and are identical between the two enzymes although the exact structures of the substrate binding pockets remain to be determined. We sought to explore the sequence basis of substrate differences using a phylogeny-based design of site-directed mutations. Mutations were made for each enzyme in the vicinity of the active site and we examined these variants for glycosylase and lyase activity...
March 6, 2017: DNA Repair
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