bluuebunny/crossref_metadata_2025_split huggingface dataset:
G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome
Authors: Lesage Suzanne , Anheim Mathieu , Letournel Franck , Bousset Luc , Honoré Aurélie , Rozas Nelly , Pieri Laura , Madiona Karine , Dürr Alexandra , Melki Ronald , Verny Christophe , Brice Alexis ,   for the French Parkinson's Disease Genetics Study Group
Published: March 2013

ObjectiveTo date, 3 rare missense mutations in the SNCA (α‐synuclein) gene and the more frequent duplications or triplications of the wild‐type gene are known to cause a broad array of clinical and pathological symptoms in familial Parkinson disease (PD). Here, we describe a French family with a parkinsonian–pyramidal syndrome harboring a novel heterozygous SNCA mutation.MethodsWhole exome sequencing of DNA from 3 patients in a 3‐generation pedigree was used to identify a new PD‐associated mutation in SNCA. Clinical and pathological features of the patients were analyzed. The cytotoxic effects of the mutant and wild‐type proteins were assessed by analytical ultracentrifugation, thioflavin T binding, transmission electron microscopy, cell viability assay, and caspase‐3 activation.ResultsWe identified a novel SNCA G51D (c.152 G>A) mutation that cosegregated with the disease and was absent from controls. G51D was associated with an unusual PD phenotype characterized by early disease onset, moderate response to levodopa, rapid progression leading to loss of autonomy and death within a few years, marked pyramidal signs including bilateral extensor plantar reflexes, occasionally spasticity, and frequently psychiatric symptoms. Pathological lesions predominated in the basal ganglia and the pyramidal tracts and included fine, diffuse cytoplasmic inclusions containing phospho‐α‐synuclein in superficial layers of the cerebral cortex, including the entorhinal cortex. Functional studies showed that G51D α‐synuclein oligomerizes more slowly and its fibrils are more toxic than those of the wild‐type protein.InterpretationWe have identified a novel SNCA G51D mutation that causes a form of PD with unusual clinical, neuropathological, and biochemical features. Ann Neurol 2013;73:459–471
Could artificial structures such as fish passes facilitate the establishment and spread of the ‘killer shrimp’ Dikerogammarus villosus (Crustacea: Amphipoda) in river systems?
Authors: Macneil Calum , Platvoet Dirk 
Published: March 2013

ABSTRACT

Linkages between habitat structure, invasibility and direct species interactions were examined in a Central European river system, the Schipbeek in the Netherlands, invaded by the ‘killer shrimp’ amphipod Dikerogammarus villosus. The invader's arrival in other fresh waters is linked to declines in macroinvertebrate biodiversity, with previous studies indicating that the invader's impacts may be mediated by habitat heterogeneity and substrate type.
Using an extensive 50 km field survey, potential habitat factors influencing distribution were identified. Of 12 sites surveyed, two contained fish ‘passes’ (instream sections creating faster flows via concrete structures covered in cemented rocks). It was only in these sites that D. villosus was found and then only in the fish pass areas, as opposed to the surrounding river, which, like the remaining 10 sites of the survey, was characterized by sluggish flows and a muddy/silty substrate. Gammarus roeselii was the numerically dominant amphipod in these latter areas, with no D. villosus being detected. A repeated survey more than 2 years later, revealed the same distribution pattern.
Within both fish pass areas, D. villosus relative abundance was highest in faster flowing, less macrophyte dense patches, with the opposite true for G. roeselii. D. villosus numerical abundance decreased with increasing macrophyte cover in both passes.
A transplant experiment indicated high survivorship of D. villosus outside fish pass areas and showed that slow‐flowing watercourses with mud/silt substrates, previously deemed ‘unsuitable’, are not effective barriers to D. villosus spreading to more ‘suitable’, faster, rocky substrate watercourses.
We recommend that when the location and cost‐benefit analysis of instream rehabilitation structures, such as fish passes, is being considered, attention must be paid to the risk of hastening the spread of this invader. We also recommend that when monitoring programmes are designed for D. villosus in newly invaded regions, instream artificial structures should be included as part of the survey. Copyright © 2013 John Wiley & Sons, Ltd.
Mitochondrial DNA variation of the bocachico Prochilodus magdalenae (Characiformes, Prochilodontidae) in the Magdalena River Basin, Colombia
Authors: Aguirre‐Pabón Juan , Narváez Barandica Juan , Castro García Lyda 
Published: March 2013

ABSTRACTThe bocachico Prochilodus magdalenae is a freshwater migratory species of great importance for conservation in Colombia. The populations of this fish have been seriously threatened in the last decade, and there is limited knowledge of its genetic conditions.In order to evaluate the genetic structure of P. magdalenae in the Magdalena River basin and some tributaries, the mitochondrial DNA control region was analysed in samples selected from 20 sites.In total, 189 polymorphic sites were detected on a sequence of 500 bp of the control region among 292 individuals, defining 233 haplotypes from which 88.41% were private. Genetic diversity was high (HD = 0.997 and π = 0.0303), neither the analysis of molecular variance, the Φst statistic, nor the Mantel test values revealed significant differences of population subdivision in any of the hierarchical levels. The tests of neutrality and mismatch distribution detected a population expansion in the Middle Pleistocene.Results showed that P. magdalenae forms a large panmictic population in the basin of the Magdalena River. A wide migratory capacity, the absence of geographical barriers and not enough time to accumulate genetic variation are likely reasons for the genetic homogeneity found in this species. Copyright © 2013 John Wiley & Sons, Ltd.
Can accidental introductions of non‐native species be prevented by fish stocking audits?
Authors: Davies Gareth D. , Gozlan Rodolphe E. , Robert Britton J. 
Published: March 2013

ABSTRACTAccidental introductions of non‐native species into aquatic environments often result in invasive populations that cause substantial conservation concerns. They account for 8% of all fish introductions and often occur when fish consignments are intentionally released into the wild (‘stocked’) but are unknowingly contaminated with a ‘hitch‐hiking’ species that is also released.This study tested the efficacy of a fish stocking audit procedure in preventing the introduction of a model hitch‐hiking fish (Pseudorasbora parva) within a batch of model native fish (Rutilus rutilus). It was tested in relation to different P. parva contamination levels (1, 5, 10, 20%), auditor expertise (Expert, Intermediate, Novice) and search effort.There was considerable variability in the detection thresholds among contamination levels, auditor experience and search effort; false‐negative recordings reduced as all these parameters increased. Probability of P. parva detection (POD, 0 to 1) showed that at the lowest search effort, POD was greater than 0.80 for Expert auditors only when contamination levels exceeded 10%. At the highest search effort, POD was greater than 0.80 at the 1% contamination level for Experts, but was at 3 and 8% contamination for Intermediates and Novices.Thus, while small non‐native fishes are at risk of being accidentally introduced owing to their difficulty of detection in stocking consignments, an effective audit procedure using experienced auditors and high search effort reduces this risk. Implementation should help prevent subsequent invasions, protecting native species from their adverse ecological consequences. Copyright © 2013 John Wiley & Sons, Ltd.
Synthesis and Biological Evaluation of Some 1,2‐Disubstituted Benzimidazole Derivatives as New Potential Anticancer Agents
Authors: Yurttaş Leyla , Demirayak Şeref , Çiftçi Gülşen A. , Yıldırım Şafak Ulusoylar , Kaplancıklı Zafer A. 
Published: March 2013

AbstractThe synthesis of some new 1‐(2‐aryl‐2‐oxoethyl)‐2‐[(morpholine‐4‐yl)thioxomethyl]benzimidazole derivatives and investigation of their anticancer activities were the aims of this work. 2‐(Chloromethyl)benzimidazole compound was reacted with sulfur and morpholine via Willgerodt–Kindler reaction to give 2‐[(morpholine‐4‐yl)thioxomethyl]benzimidazole. Then, the obtained compound was reacted with appropriate α‐bromoacetophenone derivatives in the presence of potassium carbonate to give the final products. Structure elucidation of the final compounds was achieved by FT‐IR, 1H NMR spectroscopy and MS spectrometry. The anticancer activities of the final compounds were evaluated by MTT assay, BrdU method, and flow cytometric analysis on C6, MCF‐7, and A549 tumor cells. Most of the synthesized compounds exhibited considerable selectivity against the MCF‐7 and C6 cell lines.
Sirenomelia: A new type, Showing VACTERL Association with thomas syndrome and a review of literature
Authors: Lhuaire Martin , Jestin Agnès , Boulagnon Camille , Loock Mélanie , Doco‐Fenzy Martine , Gaillard Dominique , Diebold Marie‐Danièle , Avisse Claude , Labrousse Marc 
Published: March 2013

AbstractSirenomelia or “mermaid syndrome” is a rare congenital anomaly known since antiquity. This congenital anomaly is defined as a polymalformative syndrome that associates major muscle and skeleton abnormalities (unique lower limbs) with visceral abnormalities (unilateral or bilateral renal agenesis, anomalies of the abdominal vascularisation). This phenotype, typical of sirenomelia syndrome, may be more or less severe. The pathogenic mechanisms of this syndrome are still debated and its etiology remains unknown. We report here a new type of sirenomelia that we observed in a fetus belonging to the collection of the Department of Anatomy of Reims, which led us to perform a comprehensive review of the literature on the subject: this type has never been reported and cannot be classified according to the Stocker and Heifetz classification. Moreover, this case also presents a VACTERL association with Thomas syndrome. Birth Defects Research (Part A) 97:123–132, 2013. © 2013 Wiley Periodicals, Inc.
Difference in the structures of alanine tri‐ and tetra‐peptides with antiparallel β‐sheet assessed by X‐ray diffraction, solid‐state NMR and chemical shift calculations by GIPAW
Authors: Asakura Tetsuo , Yazawa Koji , Horiguchi Kumiko , Suzuki Furitsu , Nishiyama Yusuke , Nishimura Katsuyuki , Kaji Hironori 
Published: March 2013

ABSTRACTAlanine oligomers provide a key structure for silk fibers from spider and wild silkworms.We report on structural analysis of l‐alanyl‐l‐alanyl‐l‐alanyl‐l‐alanine (Ala)4 with anti‐parallel (AP) β‐structures using X‐ray and solid‐state NMR. All of the Ala residues in the (Ala)4 are in equivalent positions, whereas for alanine trimer (Ala)3 there are two alternative locations in a unit cell as reported previously (Fawcett and Camerman, Acta Cryst., 1975, 31, 658–665). (Ala)4 with AP β‐structure is more stable than AP‐(Ala)3 due to formation of the stronger hydrogen bonds. The intermolecular structure of (Ala)4 is also different from polyalanine fiber structure, indicating that the interchain arrangement of AP β‐structure changes with increasing alanine sequencelength. Furthermore the precise 1H positions, which are usually inaccesible by X‐ray diffraction method, are determined by high resolution 1H solid state NMR combined with the chemical shift calculations by the gauge‐including projector augmented wave method. © 2013 Wiley Periodicals, Inc. Biopolymers 101: 13–20, 2014.
Bioanalytical method development, validation and quantification of dorsomorphin in rat plasma by LC‐MS/MS
Authors: Karthikeyan K. , Mahat Mahamad Yunnus A. , Chandrasekaran S. , Gopal K. , Franklin P. X. , Sivakumar Balasubramanian Jaganatha , Singh Gajendra , Narayanan Shridhar , Gopalan B. , Khan Ansar A. 
Published: March 2013

ABSTRACTThe present investigation describes the development and validation of a sensitive liquid chromatography–mass spectrometry/mass spectrometry (LC‐MS/MS) method for the estimation of dorsomorphin in rat plasma. A sensitive LC‐MS/MS method was developed using multiple reaction monitoring mode, with the transition of m/z (Q1/Q3) 400.2/289.3 for dorsomorphin and m/z (Q1/Q3) 306.2/236.3 for zaleplon. Chromatographic separation was achieved on a reverse phase Agilent XDB C18 column (100 × 4.6 mm, 5 µm). The mobile phase consisted of acetonitrile and 5 mm ammonium acetate buffer (pH 6.0) 90:10 v/v, at a flow rate of 0.8 mL/min. The effluence was ionized in positive ion mode by electrospray ionization (ESI) and quantitated by mass spectrometry. The retention times of dorsomorphin and internal standard were found to be 2.13 and 1.13 min, respectively. Mean extraction recovery of dorsomorphin and internal standard in rat plasma was above 80%. Dorsomorphin calibration curve in rat plasma was linear (r2 ≥ 0.99) ranging from 0.005 to 10 µg/mL. Inter‐day and intra‐day precision and accuracy were found to be within 85–115% (coefficient of variation). This method was successfully applied for evaluation of the oral pharmacokinetic profile of dorsomorphin in male Wistar rats. Copyright © 2013 John Wiley & Sons, Ltd.
Synthesis and application of a chiral ionic liquid functionalized β‐cyclodextrin as a chiral selector in capillary electrophoresis
Authors: Yu Jia , Zuo Lihua , Liu Hongjiao , Zhang Lijuan , Guo Xingjie 
Published: March 2013

ABSTRACTA novel chiral ionic liquid functionalized β‐cyclodextrin, 6‐O‐2‐hydroxpropyltrimethylammonium‐β‐cyclodextrin tetrafluoroborate ([HPTMA‐β‐CD][BF4]), was synthesized and used as a chiral selector in capillary electrophoresis. [HPTMA‐β‐CD][BF4] not only increased the solubility in aqueous buffer in comparison with the parent compound, but also provided a stable reversal electroosmotic flow, and the enantioseparation of eight chiral drugs was examined in phosphate buffer containing [HPTMA‐β‐CD][BF4] as the chiral selector. The effects of the [HPTMA‐β‐CD][BF4] concentration and the background electrolyte pH were studied. Moreover, the chiral separation abilities of β‐CD and [HPTMA‐β‐CD][BF4] were compared and possible mechanisms for the chiral recognition of [HPTMA‐β‐CD][BF4] are discussed. Copyright © 2013 John Wiley & Sons, Ltd.
Dopamine‐transporter levels drive striatal responses to apomorphine in Parkinson's disease
Authors: Passamonti Luca , Salsone Maria , Toschi Nicola , Cerasa Antonio , Giannelli Marco , Chiriaco Carmelina , Cascini Giuseppe Lucio , Fera Francesco , Quattrone Aldo 
Published: March 2013

AbstractDopaminergic therapy in Parkinson's disease (PD) can improve some cognitive functions while worsening others. These opposite effects might reflect different levels of residual dopamine in distinct parts of the striatum, although the underlying mechanisms remain poorly understood. We used functional magnetic resonance imaging (fMRI) to address how apomorphine, a potent dopamine agonist, influences brain activity associated with working memory in PD patients with variable levels of nigrostriatal degeneration, as assessed via dopamine‐transporter (DAT) scan. Twelve PD patients underwent two fMRI sessions (Off‐, On‐apomorphine) and one DAT‐scan session. Twelve sex‐, age‐, and education‐matched healthy controls underwent one fMRI session. The core fMRI analyses explored: (1) the main effect of group; (2) the main effect of treatment; and (3) linear and nonlinear interactions between treatment and DAT levels. Relative to controls, PD‐Off patients showed greater activations within posterior attentional regions (e.g., precuneus). PD‐On versus PD‐Off patients displayed reduced left superior frontal gyrus activation and enhanced striatal activation during working‐memory task. The relation between DAT levels and striatal responses to apomorphine followed an inverted‐U‐shaped model (i.e., the apomorphine effect on striatal activity in PD patients with intermediate DAT levels was opposite to that observed in PD patients with higher and lower DAT levels). Previous research in PD demonstrated that the nigrostriatal degeneration (tracked via DAT scan) is associated with inverted‐U‐shaped rearrangements of postsynaptic D2‐receptors sensitivity. Hence, it can be hypothesized that individual differences in DAT levels drove striatal responses to apomorphine via D2‐receptor‐mediated mechanisms.
Hybrid liposomes inhibit tumor growth and lung metastasis of murine osteosarcoma cells
Authors: Kitajima Hideki , Komizu Yuji , Ichihara Hideaki , Goto Koichi , Ueoka Ryuichi 
Published: March 2013

AbstractAntitumor effects of hybrid liposomes (HL) composed of l‐α‐dimyristoylphosphatidylcholine (DMPC) and polyoxyethylene(23) dodecyl ether (C12(EO)23) on the metastatic growth of murine osteosarcoma (LM8) cells were investigated in vitro and in vivo. Remarkable inhibitory effects of HL‐23 on the growth of LM8 cells were obtained through the induction of apoptotic cell death in vitro. It was also indicated that HL‐23 should dramatically suppress the invasion of LM8 cells and the formation of filopodia on the cell surface in vitro. Furthermore, significantly high therapeutic effects were observed in the homograft mouse models of LM8 cells with lung metastasis after the treatment with HL‐23 in vivo. That is, the histological analysis demonstrated that the primary tumor growth of LM8 cells implanted subcutaneously into the mice was inhibited along with the induction of apoptosis. In addition, it was found that HL‐23 significantly decreased the lung metastasis of LM8 cells in the mouse models through the inhibition of primary tumor invasion. These results suggest that HL‐23 could be a novel agent for the chemotherapy of osteosarcoma.
Direct Evidence of Significantly Different Chemical Behavior and Excited‐State Dynamics of 1,7‐ and 1,6‐Regioisomers of Pyrrolidinyl‐Substituted Perylene Diimide
Authors: Dubey Rajeev K. , Niemi Marja , Kaunisto Kimmo , Efimov Alexander , Tkachenko Nikolai V. , Lemmetyinen Helge 
Published: March 2013

AbstractNovel bay‐functionalized perylene diimides with additional substitution sites close to the perylene core have been prepared by the reaction between 1,7(6)‐dibromoperylene diimide 6 (dibromo‐PDI) and 2‐(benzyloxymethyl)pyrrolidine 5. Distinct differences in the chemical behaviors of the 1,7‐ and 1,6‐regioisomers have been discerned. While the 1,6‐dibromo‐PDI produced the corresponding 1,6‐bis‐substituted derivative more efficiently, the 1,7‐dibromo‐PDI underwent predominant mono‐debromination, yielding a mono‐substituted PDI along with a small amount of the corresponding 1,7‐bis‐substituted compound. By varying the reaction conditions, a controlled stepwise bis‐substitution of the bromo substituents was also achieved, allowing the direct synthesis of asymmetrical 1,6‐ and 1,7‐PDIs. The compounds were isolated as individual regioisomers. Fullerene (C60) was then covalently linked at the bay region of the newly prepared PDIs. In this way, two separate sets of perylene diimide–fullerene dyads, namely single‐bridged (SB‐1,7‐PDI‐C60 and SB‐1,6‐PDI‐C60) and double‐bridged (DB‐1,7‐PDI‐C60 and DB‐1,6‐PDI‐C60), were synthesized. The fullerene was intentionally attached at the bay region of the PDI to achieve close proximity of the two chromophores and to ensure an efficient photoinduced electron transfer. A detailed study of the photodynamics has revealed that photoinduced electron transfer from the perylene diimide chromophore to the fullerene occurs in all four dyads in polar benzonitrile, and also occurs in the single‐bridged dyads in nonpolar toluene. The process was found to be substantially faster and more efficient in the dyads containing the 1,7‐regioisomer, both for the singly‐ and double‐bridged molecules. In the case of the single‐bridged dyads, SB‐1,7‐PDI‐C60 and SB‐1,6‐PDI‐C60, different relaxation pathways of their charge‐separated states have been discovered. To the best of our knowledge, this is the first observation of photoinduced electron transfer in PDI‐C60 dyads in a nonpolar medium.
Regioselective Synthesis and Photophysical and Electrochemical Studies of 20‐Substituted Cyanine Dye–Purpurinimide Conjugates: Incorporation of NiII into the Conjugate Enhances its Tumor‐Uptake and Fluorescence‐Imaging Ability
Authors: Ethirajan Manivannan , Chen Ping , Ohulchanskyy Tymish Y. , Goswami Lalit N. , Gupta Anurag , Srivatsan Avinash , Dobhal Mahabeer P. , Missert Joseph R. , Prasad Paras N. , Kadish Karl M. , Pandey Ravindra K. 
Published: March 2013

AbstractWe report herein a simple and efficient approach to the synthesis of a variety of meso‐substituted purpurinimides. The reaction of meso‐substituted purpurinimide with N‐bromosuccinimide regioselectively introduced a bromo functionality at the 20‐position, which on further reaction with a variety of boronic acids under Suzuki reaction conditions yielded the corresponding meso‐substituted analogues. Interestingly, the free base and the metalated analogues showed remarkable differences in photosensitizing efficacy (PDT) and tumor‐imaging ability. For example, the free‐base conjugate showed significant in vitro PDT efficacy, but limited tumor avidity in mice bearing tumors, whereas the corresponding NiII derivative did not produce any cell kill, but showed excellent tumor‐imaging ability at a dose of 0.3 μmol kg−1 at 24, 48, and 72 h post‐injection. The limited PDT efficacy of the NiII analogue could be due to its inability to produce singlet oxygen, a key cytotoxic agent required for cell kill in PDT. Based on electrochemical and spectroelectrochemical data in DMSO, the first one‐electron oxidation (0.52 V vs. SCE) and the first one‐electron reduction (−0.57–0.67 V vs. SCE) of both the free base and the corresponding NiII conjugates are centered on the cyanine dye, whereas the second one‐electron reduction (−0.81 V vs. SCE) of the two conjugates is assigned to the purpurinimide part of the molecule. Reduction of the cyanine dye unit is facile and occurs prior to reduction of the purpurinimide group, which suggests that the cyanine dye unit as an oxidant could be the driving force for quenching of the excited triplet state of the molecules. An interaction between the cyanine dye and the purpurinimide group is clearly observed in the free‐base conjugate, which compares with a negligible interaction between the two functional groups in the NiII conjugate. As a result, the larger HOMO–LUMO gap of the free‐base conjugate and the corresponding smaller quenching constant is a reason to decrease the intramolecular quenching process and increase the production of singlet oxygen to some degree.
Strong Morphological Effect of Mn3O4 Nanocrystallites on the Catalytic Activity of Mn3O4 and Au/Mn3O4 in Benzene Combustion
Authors: Fei Zhao‐Yang , Sun Bo , Zhao Liang , Ji Wei‐Jie , Au Chak‐Tong 
Published: March 2013

AbstractGold nanoparticles (3–4 nm) were deposited on Mn3O4 nanocrystallites with three distinct morphologies (cubic, hexagonal, and octahedral). The resulting structures were characterized, and their activities for benzene combustion were evaluated. The dominant exposed facets for the three kinds of Mn3O4 polyhedrons show the activity order: (103)≈(200)>(101). A similar activity order was derived for the interfaces between the Au and the Mn3O4 facet: Au/(200)≈Au/(103)>Au/(101). The metal–support interactions between the Au nanoclusters and specific facets of the Mn3O4 polyhedrons lead to a unique interfacial synergism in which the electronic modification of the Au nanoparticles and the morphology of the Mn3O4 substrate have a joint effect that is responsible for a significant enhancement in the catalytic activity of the Au/Mn3O4 system.