1,721,162 research outputs found
IDENTIFICAZIONE DI UNA NUOVA CAUSA GENETICA IN UN CASO FAMILIARE DI ENCEFALOMIOPATIA MITOCONDRIALE E DEFICIT DI CITOCROMO C OSSIDASI.
Full text linkUsing a linkage whole-genome SNP genotyping, we identified a missense mutation within the GFER gene as the cause of an infantile progressive mitochondrial myopathy. The human GFER (growth factor ERV1 homolog), also called ALR (augmenter of liver regeneration), belongs to the ERV1/ALR sulfhydryl oxidase family, which requires flavin adenine dinucleotide (FAD) as a cofactor. The physiological role of Erv1 has been elucidated in S. cerevisiae. ERV1 is an essential gene whose product is localized to the mitochondrial IMS. Together with Mia40, it participates in the DRS that drives the import of small IMS proteins to their final localization. Briefly, the DRS consists of two essential components: the sulfhydryl oxidase Erv1 (homolog to human GFER) and the redox-regulated import receptor Mia40. The DRS drives the import of cysteine-rich proteins into the IMS by an oxidative folding mechanism. Erv1p is reoxidized within this system, transferring its electrons onto molecular oxygen via interaction with cytochrome c and Cytochrome c Oxidase (COX), thereby linking the DRS to respiratory chain activity.
Proteins belonging to the class of IMS, substrates of the DRS, are only partially identified. These include: a) small Tim proteins, chaperones involved in transport from the outer to the inner mitochondrial membrane; b) proteins involved in COX assembly; c) protein involved in protection from superoxide radicals generated by cellular respiration.
The consequence of the mutation at the muscle and fibroblast levels are: 1) reduction of multiple mitochondrial respiratory chain complexes activity (predominantly Complex IV), which was restored by overexpression of the wild-type protein; 2) impaired import of human cysteine-rich proteins, known to be imported through the DRS in yeast, into mitochondria; 3) abnormal mitochondrial ultrastructural morphology, with enlargement of the IMS; 4) defective mtDNA maintenance, with accelerated time-dependent accumulation of multiple mtDNA deletions. Moreover, the Saccharomyces cerevisiae erv1R182H mutant strain reproduced the Complex IV activity defect and showed genetic instability of mtDNA and mitochondrial morphological defects.
The aforementioned findings shed light on novel mechanisms of mitochondrial biogenesis and mtDNA maintenance, establish the role of ERV1 homologue in the human DRS, and promote the understanding of pathogenesis of a novel form of mitochondrial-related disease
Innovazione negli strumenti di politica di gestione delle acque
No full textIl paper intende fornire un’analisi comparativa degli strumenti innovativi all’interno della letteratura sulla gestione delle risorse idriche ed una valutazione della loro capacità di rispondere alle più recenti sfide riguardanti l’agricoltura irrigua. In primo luogo, il lavoro esamina i drivers dell’innovazione negli strumenti di gestione dell’acqua in agricoltura, legati, in particolare, al cambiamento climatico e ai mutamenti strutturali in agricoltura, alla riforma della PAC, all’andamento dei mercati, al rinnovato interesse per la competitività. Un’attenzione particolare viene dedicata agli strumenti di politica rilevanti per la realtà italiana e alle proposte di intervento formulate nell’ambito dell’Health Check. In un secondo momento, il lavoro esamina le proposte di innovazione negli strumenti di politica e gestione delle risorse idriche derivanti dalla letteratura ed applicabili al settore agricolo. Infine, il lavoro propone una discussione in cui si formula una valutazione qualitativa degli strumenti illustrati, in relazione alle sfide e alle esigenze attuali del settore irriguo. Nelle attuali condizioni di aumentata scarsità idrica, accresciuta eterogeneità delle aziende e limitata capacità di misurazione degli utilizzi idrici, un’attenzione maggiore dovrebbe essere posta dalla politiche e dalla ricerca, ai meccanismi privati di allocazione e ai meccanismi di incentivo in condizioni di informazione asimmetrica
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Full text linkWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
PINK1 parkinsonism and Parkinson disease : distinguishable brain mitochondrial function and metabolomics
No full textMutations in the PINK1 gene are associated with early onset autosomal recessive parkinsonism (EOP), which is characterized by a phenotypic presentation that, although variable, generally overlaps with that of idiopathic Parkinson Disease (PD). The clinical features and brain metabolomics of a patient who was compound heterozygous for the novel association of PINK1 A168P/W437X mutations have been extensively characterized. Apart from a few typical EOP findings, the clinical features and SPECT mostly overlapped with typical idiopathic PD. Brain metabolomics, as examined by magnetic resonance spectroscopy and PET, were clearly distinguishable
- …
