bluuebunny/crossref_metadata_2025_split huggingface dataset:
Polymerase gamma disease through the ages
Authors: Saneto Russell P. , Naviaux Robert K. 
Published: September 2010

AbstractThe most common group of mitochondrial disease is due to mutations within the mitochondrial DNA polymerase, polymerase gamma 1 (POLG). This gene product is responsible for replication and repair of the small mitochondrial DNA genome. The structure‐function relationship of this gene product produces a wide variety of diseases that at times, seems to defy the common perceptions of genetics. The unique features of mitochondrial physiology are in part responsible, but POLG structure and function add to the conundrum of how one gene product can demonstrate autosomal recessive and autosomal dominant transmission, while also being responsible for pharmacogenetic disease, and exhibiting strong gene‐environment interactions. The wide spectrum of clinical manifestations of POLG disease can arise from infancy to old age. The modulation of clinical findings relate in part to the molecular architecture of the POLG protein. POLG has three distinct molecular domains: exonuclease, linker, and polymerase domains. Most of the mutations leading to dominant forms of POLG disease are located in the Polymerase domain. Mutations leading to recessive inheritance are distributed in all three domains of the gene. Environmental factors like valproic acid and infection can unmask POLG disease, causing it to occur earlier in life than when not exposed to these factors. Other drugs like nucleoside reverse transcriptase inhibitors can produce genotype‐specific POLG pharmacogenetic disease. Our current state of POLG understanding cannot account for many features of POLG disease. There is no answer for why the same mutation can give rise to varying diseases, disease severity, and age of onset. We introduce the term Ecogenetics in the context these features of POLG disease, to emphasize the important interactions between genes and environment in determining the expression of mitochondrial disease. In this article, we identify some of the key features that will help the reader understand POLG pathophysiology. When possible, we also identify genotype‐phenotype relationships, give clues for diagnosis, and summarize the major clinical phenotypes in the spectrum of POLG disease presenting from birth to old age. © 2010 Wiley‐Liss, Inc. Dev Disabil Res Rev 2010;16:163–174.
Pharmacologic effects on mitochondrial function
Authors: Cohen Bruce H. 
Published: September 2010

AbstractThe vast majority of energy necessary for cellular function is produced in mitochondria. Free‐radical production and apoptosis are other critical mitochondrial functions. The complex structure, electrochemical properties of the inner mitochondrial membrane (IMM), and genetic control from both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) are some of the unique features that explain why the mitochondria are vulnerable to environmental injury. Because of similarity to bacterial translational machinery, mtDNA translation is likewise vulnerable to inhibition by some antibiotics. The mechanism of mtDNA replication, which is required for normal mitochondrial maintenance and duplication, is inhibited by a relatively new class of drugs used to treat AIDS. The electrochemical gradient maintained by the IMM is vulnerable to many drugs that are weak organic acids at physiological pH, resulting in excessive free‐radical generation and uncoupling of oxidative phosphorylation. Many of these drugs can cause clinical injury in otherwise healthy people, but there are also examples where particular gene mutations may predispose to increased drug toxicity. The spectrum of drug‐induced mitochondrial dysfunction extends across many drug classes. It is hoped that preclinical pharmacogenetic and functional studies of mitochondrial toxicity, along with personalized genomic medicine, will improve both our understanding of mitochondrial drug toxicity and patient safety. © 2010 Wiley‐Liss, Inc. Dev Disabil Res Rev 2010;16:189–199.
The neurologic manifestations of mitochondrial disease
Authors: Parikh Sumit 
Published: September 2010

AbstractThe nervous system contains some of the body's most metabolically demanding cells that are highly dependent on ATP produced via mitochondrial oxidative phosphorylation. Thus, the neurological system is consistently involved in patients with mitochondrial disease. Symptoms differ depending on the part of the nervous system affected. Although almost any neurological symptom can be due to mitochondrial disease, there are select symptoms that are more suggestive of a mitochondrial problem. Certain symptoms that have become sine qua non with underlying mitochondrial cytopathies can serve as diagnostic “red‐flags.” Here, the typical and atypical presentations of mitochondrial disease in the nervous system are reviewed, focusing on “red flag” neurological symptoms as well as associated symptoms that can occur in, but are not specific to, mitochondrial disease. The multitudes of mitochondrial syndromes are not reviewed in‐depth, though a select few are discussed in some detail. © 2010 Wiley‐Liss, Inc. Dev Disabil Res Rev 2010;16:120–128.
Bacteria, yeast, worms, and flies: Exploiting simple model organisms to investigate human mitochondrial diseases
Authors: Rea Shane L. , Graham Brett H. , Nakamaru‐Ogiso Eiko , Kar Adwitiya , Falk Marni J. 
Published: September 2010

AbstractThe extensive conservation of mitochondrial structure, composition, and function across evolution offers a unique opportunity to expand our understanding of human mitochondrial biology and disease. By investigating the biology of much simpler model organisms, it is often possible to answer questions that are unreachable at the clinical level. Here, we review the relative utility of four different model organisms, namely the bacterium Escherichia coli, the yeast Saccharomyces cerevisiae, the nematode Caenorhabditis elegans, and the fruit fly Drosophila melanogaster, in studying the role of mitochondrial proteins relevant to human disease. E. coli are single cell, prokaryotic bacteria that have proven to be a useful model system in which to investigate mitochondrial respiratory chain protein structure and function. S. cerevisiae is a single‐celled eukaryote that can grow equally well by mitochondrial‐dependent respiration or by ethanol fermentation, a property that has proven to be a veritable boon for investigating mitochondrial functionality. C. elegans is a multicellular, microscopic worm that is organized into five major tissues and has proven to be a robust model animal for in vitro and in vivo studies of primary respiratory chain dysfunction and its potential therapies in humans. Studied for over a century, D. melanogaster is a classic metazoan model system offering an abundance of genetic tools and reagents that facilitates investigations of mitochondrial biology using both forward and reverse genetics. The respective strengths and limitations of each species relative to mitochondrial studies are explored. In addition, an overview is provided of major discoveries made in mitochondrial biology in each of these four model systems. © 2010 Wiley‐Liss, Inc. Dev Disabil Res Rev 2010;16:200–218.
The role of mitochondrial dysfunction in psychiatric disease
Authors: Scaglia Fernando 
Published: September 2010

AbstractMitochondrial respiratory chain disorders are a group of genetically and clinically heterogeneous disorders caused by the biochemical complexity of mitochondrial respiration and the fact that two genomes, one mitochondrial and one nuclear, encode the components of the respiratory chain. These disorders can manifest at birth or present later in life. They result, at least in part, in defective production of ATP. Typically, mitochondrial disorders affect tissues with high energetic demands such as skeletal muscle, cardiac muscle, and the central nervous system. Neurological dysfunction is the most frequent clinical presentation of these disorders. The central nervous system is highly dependent on oxidative metabolism, and particular mitochondrial disorders are accompanied by focal brain necrosis (Leigh disease), dementia, or static encephalopathy. Furthermore, many children with mitochondrial encephalomyopathies present with more subtle and indolent signs including focal cognitive deficits of memory, perception, and language. Some subjects with mitochondrial disorders may also exhibit nonverbal cognitive impairment, compromised visuospatial abilities, and short‐term memory deficits associated with working memory that likely reflect defects in synaptic plasticity. Psychiatric features are found within the clinical spectrum of mitochondrial syndromes. It is increasingly recognized that mitochondrial dysfunction may be associated with neuropsychiatric abnormalities such as dementia, major depression, and bipolar disorder. Furthermore, several lines of evidence suggest that there is involvement of mitochondrial dysfunction in schizophrenia, including documented alterations in brain energy metabolism, electron transport chain activity, and expression of genes involved in mitochondrial function. The purpose of this review article is to summarize the psychiatric features observed in mitochondrial cytopathies and discuss possible mechanisms of dysfunctional cellular energy metabolism that underlie the pathophysiology of major subsets of psychiatric disorders. © 2010 Wiley‐Liss, Inc. Dev Disabil Res Rev 2010;16:136–143.
prdm1a Regulates sox10 and islet1 in the development of neural crest and Rohon‐Beard sensory neurons
Authors: Olesnicky Eugenia , Hernandez‐Lagunas Laura , Artinger Kristin Bruk 
Published: September 2010

AbstractThe PR domain containing 1a, with ZNF domain factor, gene (prdm1a) plays an integral role in the development of a number of different cell types during vertebrate embryogenesis, including neural crest cells, Rohon‐Beard (RB) sensory neurons and the cranial neural crest‐derived craniofacial skeletal elements. To better understand how Prdm1a regulates the development of various cell types in zebrafish, we performed a microarray analysis comparing wild type and prdm1a mutant embryos and identified a number of genes with altered expression in the absence of prdm1a. Rescue analysis determined that two of these, sox10 and islet1, lie downstream of Prdm1a in the development of neural crest cells and RB neurons, respectively. In addition, we identified a number of other novel downstream targets of Prdm1a that may be important for the development of diverse tissues during zebrafish embryogenesis. genesis 48:656–666, 2010. © 2010 Wiley‐Liss, Inc.
Facile and Green Synthesis of SERS Active and Ferromagnetic Silver Nanorods
Authors: Mohapatra Sudip , Siddhanta Soumik , Kumar D. Ravinder , Narayana Chandrabhas , Maji Tapas Kumar 
Published: September 2010

AbstractSilver nanorods with increased surface‐enhanced Raman scattering sensitivity and detection have been synthesized in a novel, facile, and eco‐friendly way through a simple chemical reduction method using 2,3‐dihydroxyfumaric acid in aqueous solution under aerobic conditions. The structure and composition of the silver nanorods were characterized by UV/Vis spectroscopy, powder X‐ray diffraction, transmission electron microscopy (TEM), and field emission scanning electron microscopy (FESEM). Simple hard washing agglomerates the nanorods. The agglomerated nanorods consist of several “hot spots”, easily replaceable capping agents and an anisotropic shape, which are all responsible for its high sensitivity and trace detection (picomolar level) of different adsorbate molecules (thiophenol, Rhodamine 6G) in surface‐enhanced Raman scattering. Rarely observed, but theoretically established, unpaired s‐electron‐based ferromagnetism is the other interesting aspect of these nanorods.
Accelerated Syntheses of Porous Isostructural Lanthanide–Benzenetricarboxylates (Ln–BTC) Under Ultrasound at Room Temperature
Authors: Khan Nazmul Abedin , Haque Md. Masuqul , Jhung Sung Hwa 
Published: September 2010

AbstractPorous isostructural [Ln(BTC)(H2O)·4.3H2O], or Ln–BTC (Ln: Ce, Tb, and Y; BTC stands for 1,3,5‐benzenetricarboxylate), with a tetragonal structure has been synthesized by ultrasonic irradiation at room temperature. Under ultrasound, the syntheses were quickly accelerated to obtain the fully crystallized phase in only minutes. The particle size can be considerably decreased by this method. On the basis of XRD, field‐emission scanning electron microscopy (FE‐SEM), and surface area analyses, it can be understood that the Ln–BTCs are homogeneous in phase, isostructural, and microporous. The synthesis rates are rCe–BTC > rTb–BTC > rY–BTC for both in the nucleation and crystal‐growth stages, thereby illustrating the importance of the lability of the metal ions in the synthesis of the metal‐organic framework (MOF) materials. The Tb–BTC shows luminescence properties, a characteristic property of Tb3+ (green‐light emission), in the range of 470–630 nm at room temperature. It is believed that these lanthanide MOFs with micropores and/or luminescent properties should be proven to be multifunctional materials on further investigations.
A MnII12 Supramolecular Array with Four Independent Spin‐Coupled Subunits
Authors: Shuvaev Konstantin V. , Dawe Louise N. , Thompson Laurence K. 
Published: September 2010

AbstractThe tetratopic pyridazine‐hydrazone ligand L2 is based on a design that successfully produces self‐assembled [4 × 4] MII16 (M = Mn, Cu) grids, but incorporates π‐charge‐rich, strong field bipy end groups. L2 forms an unusual incomplete“super” triangular CuII11 motif, dominated by the bipy ends. We now describe the incomplete MnII12 partial grid [Mn12(L2–2H)6(L–H)2{N(CN)2}2].
Hydrogenation and Dehydrogenation of Pentaphenylcyclopentadienes and Pentaphenylcyclopentenes
Authors: Kanthak Matthias , Muth Enrico , Dyker Gerald 
Published: September 2010

AbstractPentaaryl‐substituted cyclopentadienes and cyclopentenes have been employed in catalytic hydrogenation and photochemical cyclodehydrogenation reactions, targeting strained bowl‐shaped structures. Both types of reactions generally stop at the monohydrogenation and monocyclization stage, respectively.
Synthesis and Evaluation of Pseudopeptidic Fluorescence pH Probes for Acidic Cellular Organelles: In Vivo Monitoring of Bacterial Phagocytosis by Multiparametric Flow Cytometry
Authors: Burguete M. Isabel , Galindo Francisco , Izquierdo M. Angeles , O'Connor José‐Enrique , Herrera Guadalupe , Luis Santiago V. , Vigara Laura 
Published: September 2010

AbstractA new family of fluorescent anthracenic pH probes has been synthesized, chemically characterized, and their photophysical properties have been investigated by steady‐state and time‐resolved fluorescence spectroscopy. The ability of these compounds to monitor pH has been investigated in solution and it was found that molecules 1–12 can act as fluorescent sensors for pH in a range between 4.6 and 6.5. This range corresponds to the pH of acidic organelles in the cell (pH 4.5–6.0) for which a limited number of probes are described. The acid–base behavior of each sensor varies slightly depending on the nature of substituents close to the amines present in the molecules. Thus, the pKa of this family of compounds can be finely tuned by the appropriate selection of the synthetic building blocks at the design stage. To test the potential diagnostic applications of this family of probes, macrocyclic pseudopeptide 2 was used to monitor the phagocytosis of a culture of GFP‐labelled bacteria by human monocytic cells U937 using flow cytometry as the analytical tool. It was found that the occurrence of bacterial killing was concomitant with the production of reactive oxygen species and a drop in pH, the latter monitored indirectly by macrocyclic sensor 2, which suggests its potential use for diagnostic purposes.
Spatial distribution of heavy metals in the coastal zone of “Sfax‐Kerkennah” plateau, Tunisia
Authors: Nedia Ghannem , Chafai Azri , Moncef Serbaji Mohammed , Chokri Yaich 
Published: September 2010

AbstractThe concentrations of selected heavy metals (Cr, Cd, Ni, Zn, Cu, Pb, Mn, and Fe) in surface sediments from the coastal zone of “Sfax‐Kerkennah” plateau (Tunisia) were studied to understand the current degree of metal contamination. The geochemical analyses showed wide spatial variations in metal concentrations. Enrichment factors (EFs) and principal component analysis revealed two distinct groups of metals. The first group corresponded to Mn and Fe that were derived from natural sources, and the second group contained Cr, Cd, Ni, Zn, Cu and to a lesser degree Pb that originated from anthropogenic sources. The localized higher EF values that were in harmony with those of the spatial distribution of element concentrations confirmed the significant impact of anthropogenic activities. On the basis of geoaccumulation index values (Igeo), these activities were shown to be responsible for important sediment contamination, especially close to the coastline. © 2010 American Institute of Chemical Engineers Environ Prog, 2011
Effects of microwave pretreatments on the anaerobic digestion of food industrial sewage sludge
Authors: Beszédes Sándor , László Zsuzsanna , Szabó Gábor , Hodúr Cecilia 
Published: September 2010

AbstractMicrowave irradiation is a novel and very promising technology for sludge conditioning. As pretreatment, it has a verified beneficial effect on the microbial degradation and anaerobic digestion of sewage sludge, but in present work we dealt with the applicability of microwave pretreatments for food industrial sludge. However, studies cannot be found that specialize on the effects of the MW treatments with different intensities on the anaerobic digestion of sludge. In our work we focused on the examination of the effect of MW pretreatment for 0.5, 2.5, and 5 W/g on the carbonaceous biochemical oxygen demand (CBOD5), solubilization of organic matters (sCOD/tCOD), and the mesophilic anaerobic digestion of dairy sewage sludge. It can be concluded that the MW pretreatments were appropriate to enhance the efficiency of anaerobic digestion. With MW pretreatments the specific biogas product could be increased from 220 mL g−1 to more than 600 mL g−1 because of the increased solubility (from 9.7% to more than 40%), and the enhanced accessibility of organic compounds for decomposing bacteria. © 2010 American Institute of Chemical Engineers Environ Prog, 2011
Life cycle assessment of polylactic acid and polyethylene terephthalate bottles for drinking water
Authors: Gironi Fausto , Piemonte Vincenzo 
Published: September 2010

AbstractThe biodegradable plastics were introduced in the 1980s to detect possible renewable feedstock to produce nonpetroleum‐based plastics as well as to reduce the environmental problems due to the increase of landfill volume. Furthermore, the biodegradable plastics have been used to reduce the environmental impact (in terms of energy requirement from nonrenewable resources and CO2 gas emissions) derived from production, utilization, and disposal of petroleum‐based plastics, like polyethylene terephthalate (PET). To this end, in the last years, different typologies of bioplastics were introduced (both biodegradable plastics and plastics made from renewable resources) like Mater‐Bi (made from starch), poly‐3‐hydroxybuyrate, polycaprolactone, and polylactic acid (PLA).Nowadays, the most important tool to evaluate the environmental impact of a bioplastic and/or of a petroleum‐based plastic (conventional plastic) is the life cycle assessment (LCA) that determines the overall impact of a plastic on the environment by defining and analyzing several impact indices directly related to production, utilization, and disposal of the considered plastics.In this work, the LCA (cradle to grave) of PLA bottles for drinking water was developed and compared to the LCA of PET bottles for the same use.The obtained results highlighted that the true advantage of the PLA bottles with respect to the PET bottles arises from the use of renewable resources, but this benefit is paid in environmental terms due to the higher impact on human health and ecosystem quality (due to the use of pesticides, consumption of land, and consumption of water for the production of raw materials). © 2010 American Institute of Chemical Engineers Environ Prog, 2011
Adaptation of bagasse fly ash, a sugar industry solid waste into zeolitic material for the uptake of phenol
Authors: Shah Bhavna , Tailor Ritesh , Shah and Ajay 
Published: September 2010

AbstractBagasse fly ash (BFA), a sugar industry waste was converted into zeolitic material (ZBFA) by alkaline hydrothermal treatment. The virgin BFA and synthesized ZBFA were characterized by various instrumental techniques viz. XRF, FTIR, PXRD. Zeolitazation achieved showed that zeolite‐P was the dominant constituent of ZBFA. The physico‐chemical properties of BFA and ZBFA were compared. Morphology of the sorbents was examined by SEM. The kinetic and thermodynamic data of sorbents were evaluated by Coats and Redfern method using Thermal Analysis (TGA, DTG, and DTA) data. The point of zero charge value of the sorbents determined by mass titration method showed higher value for ZBFA (pH 8.62) as compared with BFA (pH 5.80). The specific surface area of ZBFA increased to 505 m2/g (BFA = 440 m2/g). Sorption capacities of BFA and ZBFA were examined by sorption of phenol at various operational parameters. The equilibrium data were analyzed by various adsorption isotherms viz. Langmuir, Freundlich, Temkin, and D‐R. Langmuir isotherm best fits the experimental data for ZBFA (qm = 35.43 mg/g) and BFA (qm = 16.33 mg/g). The isotherms study indicates that the sorption capacity of synthetic zeolitic (ZBFA) products is significantly increased after alkaline hydrothermal treatment. © 2010 American Institute of Chemical Engineers Environ Prog, 2011
Chronic exposure to fluoxetine (Prozac) causes developmental delays in Rana pipiens larvae
Authors: Foster Hannah R. , Burton G. Allen , Basu Niladri , Werner Earl E. 
Published: September 2010

Abstract
Selective serotonin reuptake inhibitors (SSRIs), such as fluoxetine, are among the many pharmaceuticals detected in aquatic ecosystems. Although the acute effects of SSRIs on select organisms have been reported, little is understood about the chronic effects of these drugs on amphibians, which are particularly sensitive to environmental pollutants. Serotonin plays important roles in many physiological functions, including a wide array of developmental processes. Exposure to SSRIs during development may cause developmental complications in a variety of organisms, but little is known about the degree of exposure necessary to cause deleterious effects. Here, we sought to gain a better understanding of the effects of SSRIs on amphibian development by use of a combined laboratory and outdoor mesocosm study. Tadpoles in a laboratory setting were exposed to a low (0.029 µg/L) and a high (0.29 µg/L) concentration of the common SSRI fluoxetine from stages 21 and 22 through completion of metamorphosis. Tadpoles in outdoor mesocosms were exposed to fluoxetine concentrations ranging from 0.1 to 0.3 µg/L. Exposed tadpoles in the laboratory showed delayed development compared with controls when stage was assessed throughout the experiment. Control tadpoles also gained weight faster than treatment tadpoles, which may be explained by reduced food intake. Mesocosm tadpoles exhibited similar trends, but no significant differences were detected. These results indicate that ecologically relevant levels of fluoxetine may cause developmental delays in amphibians. Environ. Toxicol. Chem. 2010;29:2845–2850. © 2010 SETAC