1,721,100 research outputs found
Lipids and glucose homeostasis upon metabolic challenge: extracellular matrix takes the stage
No full textOn the pathogenesis of collagen VI muscular dystrophies--comment on article of Hicks et al.
No full textSIR, in a recent article published in Brain (Hicks et al., 2009), while confirming our finding that myoblasts from patients affected by Ullrich congenital muscular dystrophy (UCMD) display a latentmitochondrial dysfunction that can be unmasked by the addition of the F1FO ATPase inhibitor oligomycin (Angelin et al., 2007), Hicks et al. conclude that ‘PTP dysregulation may be a particular characteristic of the state of these cells in culture and is not specific to the collagen VI defect’. ............................
Autophagy in the mesh of collagen VI
No full textAutophagy is a very versatile process through which the cell degrades damaged long-lived proteins, entire organelles, or pathogens, by engulfing them in characteristic double-membrane vesicles and conveying the cargo to lysosomes. It is a dynamic pathway tunable at multiple levels and responsive to nutrient and stress stimuli, also coming from the extracellular microenvironment and its remodeling. In the extracellular matrix, collagen type VI forms a distinctive set of beaded microfilaments that assemble into an intricate and multimodular meshwork of tightly linked proteins and surface receptors. When missing or defective, collagen VI triggers a series of pathological events in skeletal muscle and other tissues, with a remarkable impact on key cell processes, such as apoptosis and autophagy. In this review, we discuss the current knowledge about collagen VI regulation of autophagy in the different experimental models and human pathologies where it was studied, and provide some hints for future directions aimed at the fine dissection of this intriguing relationship, as well as its prospective translational impact for disease and therapy
Expression pattern and functional studies of Emilin genes in zebrafish
No full textExpression pattern and functional studies of Emilin genes in zebrafis
Toward a mitochondrial therapy of collagen VI muscular dystrophies (TELETHON GRANT GGPO8107)
No full textMuscular dystrophies are genetic, progressive diseases for which no therapy is currently available. We have
discovered why muscle fibers degenerate in two human muscular dystrophies caused by abnormalities of
Collagen VI, Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM). The absence
of Collagen VI has a major impact inside the fibers by triggering a short circuit in the cell’s energy
generators, the mitochondria. This short circuit is caused by opening of a channel called the “Permeability
Transition Pore” (PTP), which can be inhibited by the drug cyclosporin A (CsA). We have blocked the
short circuit and cured the disease in a mouse lacking Collagen VI; and we have shown that cells from
patients affected by UCMD and BM also respond to CsA. A short−term pilot trial with CsA in patients
affected by UCMD and BM has provided encouraging results, but long−term use of CsA may expose the
patients to the risks of immunosuppression. To overcome this hurdle we will test the efficacy of a derivative
of CsA that inhibits the PTP but does not cause immunosuppression, and which we have already shown to
be effective in curing the patients’ cells in vitro. We will also identify further potential targets for
pharmacological intervention, with the goal of providing an effective treatment for human Collagen VI
muscular dystrophies
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
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