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Yi Jiang, Brandon Mistretta, Sarah H Elsea, Qin Sun
AIM: Molybdenum co-factor deficiencies and isolated sulfite oxidase deficiency are rare autosomal recessively inherited diseases characterized by severe psychomotor impairment, intractable seizures, dislocated lens and dysmorphic facial features. The biochemical diagnosis of these diseases requires the determination of urine sulfocysteine. MATERIALS & METHODS: Urine sulfocysteine was quantified by an ultra-high performance liquid chromatography-MS/MS assay. The method was validated for linearity, accuracy, precision, recovery and stability...
May 18, 2018: Bioanalysis
Orli Thau-Zuchman, Rita Noutel Gomes, Simon Christopher Dyall, Meirion Davis, John V Priestley, Martine Groenendijk, Martijn DE Wilde, Jordi Lopez-Tremoleda, Adina T Michael-Titus
Traumatic brain injury (TBI) leads to cellular loss, destabilisation of membranes, disruption of synapses and altered brain connectivity, and increased risk of neurodegenerative disease. A significant and long-lasting decrease in phospholipids (PL), essential membrane constituents, has recently been reported in plasma and brain tissue, in human and experimental TBI. We hypothesised that supporting PL synthesis post-injury could improve outcome after TBI. We tested this hypothesis using a multi-nutrient combination designed to support the biosynthesis of phospholipids and available for clinical use...
May 17, 2018: Journal of Neurotrauma
Toomas Silla, Evdoxia Karadoulama, Dawid Mąkosa, Michal Lubas, Torben Heick Jensen
Mammalian genomes are promiscuously transcribed, yielding protein-coding and non-coding products. Many transcripts are short lived due to their nuclear degradation by the ribonucleolytic RNA exosome. Here, we show that abolished nuclear exosome function causes the formation of distinct nuclear foci, containing polyadenylated (pA+ ) RNA secluded from nucleocytoplasmic export. We asked whether exosome co-factors could serve such nuclear retention. Co-localization studies revealed the enrichment of pA+ RNA foci with "pA-tail exosome targeting (PAXT) connection" components MTR4, ZFC3H1, and PABPN1 but no overlap with known nuclear structures such as Cajal bodies, speckles, paraspeckles, or nucleoli...
May 15, 2018: Cell Reports
A Pathare, F Al Hajri, S Al Omrani, N Al Obaidani, B Al Balushi, K Al Falahi
BACKGROUND: Assessment of the severity of bleeding symptom has led to the evolution of bleeding assessment tools which are now validated. AIMS: To administer the condensed molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease VWD (MCMDM-1 vWD) questionnaire to the Omani type 1 vWD patients and correlate it with the laboratory parameters. METHODS: Patients and controls were personally interviewed and the condensed MCMDM-1 vWD questionnaire administered by a single investigator...
May 13, 2018: International Journal of Laboratory Hematology
Catherine A Musselman, Tatiana G Kutateladze
Chromatin signaling events are critical for the dynamic regulation of the genome. Although much has been learned about histone modification in these events, the modification of nonhistone chromatin regulators and cross-talk between these pathways is less well understood. Here, Appikonda et al. demonstrate that the transcription co-factor and oncoprotein TRIM24 (tripartite motif-containing protein 24) is SUMOylated upon association with a specific histone modification signature, which regulates the transcription of genes involved in cell adhesion...
May 11, 2018: Journal of Biological Chemistry
Mingcong Fan, Yihui Fan, Weiping Huang, Li Wang, Yan Li, Haifeng Qian, Hui Zhang, Xiguang Qi
Vaccinium bracteatum leaves (VBTL) are traditionally used in China to dye rice grains, which assume a deep blue color, named 'Wu mi'. Information on the mechanism of pigment formation is limited. In this study, CIELAB color space parameters were used to represent the color of 'Wu mi'. Precursor compounds of pigments formed during the dyeing process were identified by UPLC Q-TOF MS analysis. The changes in co-factors for pigment formation in VBTL were measured at different growth stages. The L∗ and b∗ values of dyed rice increased as the leaves aged, whereas a∗ values showed irregular changes...
October 1, 2018: Food Chemistry
Lu Dai, Luis Del Valle, Wendell Miley, Denise Whitby, Augusto C Ochoa, Erik K Flemington, Zhiqiang Qin
Kaposi's sarcoma-associated herpesvirus (KSHV) is the causative agent of several human cancers such as Kaposi's sarcoma (KS), which represents the most common AIDS-associated malignancy that lacks effective treatment options. Despite its clear role in AIDS malignancies, the fact that only a small set of KSHV-infected patients will eventually develop these tumors implies that additional co-factors are required for the development of KSHV-related cancers. In the current study, we demonstrate for the first time that KSHV de novo infection or viral latent proteins are able to transactivate human endogenous retrovirus K (HERV-K) through a variety of cellular signaling pathways and transcriptional factors...
May 10, 2018: Oncogene
Anna C Maurer, Simon Pacouret, Ana Karla Cepeda Diaz, Jessica Blake, Eva Andres-Mateos, Luk H Vandenberghe
The adeno-associated virus (AAV) vector is a preferred delivery platform for in vivo gene therapy. Natural and engineered variations of the AAV capsid affect a plurality of phenotypes relevant to gene therapy, including vector production and host tropism. Fundamental to these aspects is the mechanism of AAV capsid assembly. Here, the role of the viral co-factor assembly-activating protein (AAP) was evaluated in 12 naturally occurring AAVs and 9 putative ancestral capsid intermediates. The results demonstrate increased capsid protein stability and VP-VP interactions in the presence of AAP...
May 8, 2018: Cell Reports
Conrad Wiegand, Peter Heusser, Claudia Klinger, Dirk Cysarz, Arndt Büssing, Thomas Ostermann, Andreas Savelsbergh
Stress is an important co-factor for the genesis and maintenance of many diseases and is known to have an effect on gene expression via epigenetic regulation. MicroRNAs (miRNAs) appear to function as one of the key factors of this regulation. This is the first study to investigate the response of 11 stress-associated miRNAs in human saliva - as a non-invasive source - in an experimental condition of acute psychological stress, and also their correlation with established psychological (subjective stress perception), physiological (heart rate and heart rate variability) and biochemical stress parameters (salivary cortisol and alpha-amylase)...
May 8, 2018: Scientific Reports
Daniel B Herrick, Zhen Guo, Woochan Jang, Nikolai Schnittke, James E Schwob
The adult olfactory epithelium (OE) has the remarkable capacity to regenerate fully both neurosensory and non-neuronal cell types after severe epithelial injury. Life-long persistence of two stem cell populations supports OE regeneration when damaged: the horizontal basal cells (HBCs) -- dormant and held in reserve, and globose basal cells (GBCs) -- a heterogeneous population most of which are actively dividing. Both populations regenerate all cell types of the OE after injury, but the mechanisms underlying neuronal vs...
May 8, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Rui Dong, Nianyue Wang, Yongfeng Yang, Li Ma, Qiang Du, Wei Zhang, Anh H Tran, Haiyoung Jung, Andrew Soh, Yijie Zheng, Shan Zheng
BACKGROUND: Vitamin K (VK) is a co-factor of the γ-glutamyl carboxylase that catalyzes the conversion of glutamate residues to γ-carboxyglutamate in VK-dependent proteins. The carboxylation reaction imparts the essential calcium-binding residues for the biological function of several proteins involved in the process of coagulation and bone metabolism. VK deficiency is frequently encountered in newborns and can lead to fatal hemorrhagic complications. This review describes and discusses the clinical application of VK deficiency testing...
April 1, 2018: Clinical Laboratory
Lu Dai, Jing Qiao, Luis Del Valle, Zhiqiang Qin
High-risk human papillomavirus (HPV) infection is the etiological agent of cervical, oral and oropharyngeal cancers. Another oncogenic virus, Kaposi sarcoma-associated herpesvirus (KSHV) can cause several human cancers arising in those immunocompromised patients. KSHV DNA has been detected in the oral cavity and the female genital tract, although its detection rate in cervical samples is relatively low. Therefore, it remains unclear about the role of KSHV co-infection in the development of HPV-related neoplasia...
2018: American Journal of Cancer Research
Victoria Shumyantseva, Tatiana Bulko, Alexey Kuzikov, Rami Masamrekh, Alexander Archakov
Method for electrochemical determination of L-tyrosine with screen-printed electrodes (SPE) modified with multi-walled CNT or CNT/TiO2 as sensing elements was used for the electroanalysis of L-tyrosine (Tyr). It was demonstrated that SPE/CNT and SPE/CNT/TiO2 exhibited high electrocatalytic activity and good analytical performance towards oxidation of L-tyrosine. The linear range of Tyr in human serum was 0.025 ÷ 1 mM with the correlation coefficient R2  = 0.97. Direct electrochemistry (without any mediator) of co-factor-free bovine serum albumin (BSA) and human serum albumin (HSA) was investigated by use of modified electrodes...
May 3, 2018: Amino Acids
Xiujuan Yang, Gang Li, Yuesheng Tian, Yu Song, Wanqi Liang, Dabing Zhang
In organisms, aminoacyl-tRNA synthetases (aaRSs) play a housekeeping role in cellular protein synthesis, but little is understood about how these aaRSs are involved in organ development. Here we report that, in the model crop rice (Oryza sativa), a glutamyl-tRNA synthetase (OsERS1) maintains proper somatic cell organization and limits the over-proliferation of male germinal cells during early anther development. The expression of OsERS1 is specifically detectable in meristematic layer 2-derived (L2-d) cells of the early anther, and osers1 exhibits over-proliferation and disorganization of L2-d cells, producing fused lobes and extra germinal cells in early anthers...
May 2, 2018: Plant Physiology
Valentina Grande, Francesca Ornaghi, Liliana Comerio, Elena Restelli, Antonio Masone, Alessandro Corbelli, Daniele Tolomeo, Vanessa Capone, Jeffrey M Axten, Nicholas J Laping, Fabio Fiordaliso, Michele Sallese, Roberto Chiesa
Marinesco-Sjögren syndrome (MSS) is a rare, early-onset, autosomal recessive multisystem disorder characterized by cerebellar ataxia, cataracts and myopathy. Most MSS cases are caused by loss-of-function mutations in the gene encoding SIL1, a nucleotide exchange factor for the molecular chaperone BiP which is essential for correct protein folding in the endoplasmic reticulum. Woozy mice carrying a spontaneous Sil1 mutation recapitulate key pathological features of MSS, including cerebellar atrophy with degeneration of Purkinje cells, and progressive myopathy...
April 28, 2018: Human Molecular Genetics
Maria Carmen Mulero, Shandy Shahabi, Myung Soo Ko, Jamie M Schiffer, Debin Huang, Vivien Ya-Fan Wang, Rommie E Amaro, Tom Huxford, Gourisankar Ghosh
Transcription activator proteins typically contain two functional domains: a DNA binding domain (DBD) that binds to DNA with sequence specificity, and an activation domain (AD) whose established function is to recruit RNA polymerase. In this report, we show that purified recombinant nuclear factor κB (NF-κB) RelA dimers bind specific κB DNA sites with significantly lower affinity than the same dimers from nuclear extracts of activated cells suggesting that additional nuclear co-factors might facilitate DNA binding by the RelA dimers...
April 30, 2018: Biochemistry
Emilie Cornec-Le Gall, Rory J Olson, Whitney Besse, Christina M Heyer, Vladimir G Gainullin, Jessica M Smith, Marie-Pierre Audrézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R Senum, Jennifer Arroyo, Charles D Madsen, Claude Férec, Dominique Joly, François Jouret, Oussamah Fikri-Benbrahim, Christophe Charasse, Jean-Marie Coulibaly, Alan S Yu, Korosh Khalili, York Pei, Stefan Somlo, Yannick Le Meur, Vicente E Torres, Peter C Harris
Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of families genetically unresolved. We performed whole-exome sequencing (WES) in two multiplex ADPKD-like pedigrees, and we analyzed a further 591 genetically unresolved, phenotypically similar families by targeted next-generation sequencing of 65 candidate genes. WES identified a DNAJB11 missense variant (p...
May 3, 2018: American Journal of Human Genetics
Semanti Ghosh, Angshuman Bagchi
Sulfur metabolism is one of the oldest known biochemical processes. Chemotrophic or phototrophic proteobacteria, through the dissimilatory pathway, use sulfate, sulfide, sulfite, thiosulfate or elementary sulfur by either reductive or oxidative mechanisms. During anoxygenic photosynthesis, anaerobic sulfur oxidizer Allochromatium vinosum forms sulfur globules that are further oxidized by dsr operon. One of the key redox enzymes in reductive or oxidative sulfur metabolic pathways is the DsrAB protein complex...
April 26, 2018: Journal of Molecular Modeling
Mengxue Yu, Yingzhun Chen, Xuelian Li, Rui Yang, Lijia Zhang, Longtao Huangfu, Nan Zheng, Xiaoguang Zhao, Lifang Lv, Yaozhen Hong, Haihai Liang, Hongli Shan
Yes-associated protein 1 (YAP1) contributes to the development of multiple tumors, but the mechanism underlying YAP1 deregulation in non-small cell lung cancer (NSCLC) remains unclear. By performing immunohistochemistry (IHC) assays, we found that YAP1 was significantly upregulated in NSCLC compared with adjacent tissues; therefore, we sought to elucidate whether the upregulation of YAP1 contributes to NSCLC progression. MTT and transwell assays showed that YAP1 overexpression promoted proliferation, migration, and invasion in the NSCLC cell lines A549 and H460; YAP1 overexpression also promoted the significant differential expression of epithelial-mesenchymal transition (EMT)-related markers...
April 27, 2018: Cell Death & Disease
Kallur Nava Saraswathy, Shipra Joshi, Suniti Yadav, Priyanka Rani Garg
BACKGROUND: Dyslipidemia and hyper-homocysteinemia are the major independent risk factors of cardio vascular disease. Deficiency of folate and vitamin B-12 are associated with both hyper-homocysteinemia and dyslipidemia. The aim of the study is to evaluate the relationship of homocysteine and its associated dietary determinant levels (Folate and Vitamin B-12) with lipids and obesity parameters (WC, BMI, WHR) in North Indian population. METHODS: The participants were recruited under a major government funded project through household survey covering 15 villages of Haryana, India...
April 25, 2018: Lipids in Health and Disease
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