Search results for "Marie"
showing 10 items of 99 documents
Nitrogen broadening of SF6 transitions in the nu3 band
2001
Abstract Nitrogen induced pressure-broadened halfwidths of a number of ν3 transitions of SF6 are calculated using the complex Robert–Bonamy (CRB) formalism. The calculations are made at 200, 250, 296 and 350 K and the temperature dependence of the halfwidths are determined. The intermolecular potential is taken as a sum of the leading electrostatic and Lennard-Jones [6] , [7] , [8] , [9] , [10] , [11] , [12] atom–atom components. The dynamics of the collision process are correct to second order in time. The calculated halfwidths are used to simulate the ν3 spectrum, which is compared to a simulation made using the HITRAN96 halfwidths and measurements made at the Universite Pierre et Marie C…
Editorial: Legumes for global food security
2020
descripción no proporcionada por scopus
HACIA LA SOBERANIA ALIMENTARIA, ENTRE LA REORGANIZACION INSTITUCIONAL Y LA INICIATIVA LOCAL. EL PROYECTO COMUNITARIO DE RIEGO DE MARIANO ACOSTA (ECUA…
2018
Ecuador es una de las primeras naciones que ha incorporado en su texto constitucional el concepto de soberanía alimentaria. En su Carta Magna de 2008, el artículo 281 señala que la soberanía alimentaria constituye un objetivo estratégico y una obligación, y el artículo 282 requiere que el Estado prohíba el acaparamiento o la privatización del agua. En este contexto, la gestión y la regulación de los recursos hídricos han generado divergencias entre las autoridades centrales y las comunidades rurales. La aprobación de la Ley de Aguas de 2014 ha avivado estas discrepancias. A través del análisis del proyecto comunitario de Mariano Acosta en la provincia de Imbabura, este artículo cuestiona si…
The ‘Open Garden of Politics’: The impact of open primaries for candidate selection in the British Conservative Party
2016
International audience; Since 2003, hundreds of open primaries for the selection of parliamentary candidates have been held by the British Conservative Party as a means of democratising party organisation and enhancing representativeness. In the run-up to the 2015 general election, only 26 primaries could be identified. This article will apply the analytical framework provided by Hazan and Rahat to demonstrate that the relative failure of the experiment in terms of intra-party competition, participation, representation and responsiveness is counterbalanced by the benefits brought by this procedure, both as a tool of party branding at the national level and as a strategy for raising the prof…
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration
2020
Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several pathological processes in the nervous system, such as neurotoxicity, neuroinflammation, ischemic stroke, and neurodegeneration. The concepts of oxidative stress and rare diseases were formulated in the eighties, and since then, the link between them has not stopped growing. The present review aims to expand knowledge in the pathological processes associated with oxidative stress underlying …
A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration
2017
[EN] Charcot-Marie-Tooth disease is a rare peripheral neuropathy for which there is no specific treatment. Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene. A striking feature of mutations in GDAP1 is that they have a variable clinical manifestation, according to disease onset and progression, histology and mode of inheritance. Studies in cellular and animal models have revealed a role of GDAP1 in mitochondrial morphology and distribution, calcium homeostasis and oxidative stress. To get a better understanding of the disease mechanism we have generated models of over-expression and RNA interference of the Drosophila Gdapl gene. In order to get an overview about the c…
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
2017
AbstractMutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more seve…
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
2016
Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the genetics of which are poorly characterized. We designed a panel comprising 56 genes associated with Charcot-Marie-Tooth disease/hereditary motor neuropathy. We validated this diagnostic tool by first testing 11 patients with pathological mutations. A cohort of 33 affected subjects was selected for this study. The DNAJB2 c.352+1G>A mutation was detected in two cases; novel changes and/or variants with low frequency (50 known disease-associated genes. Mutations in some of these gene…
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene
2016
Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3. This patient did not present mutations in the PM22, MPZ or GJB genes. Human reprogramming factors OCT3/4, KLF4, SOX2 and C-MYC were delivered using a non-integrative methodology that involves the use of Sendai virus.
The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient
2017
Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2). Mitofusin 2 is a GTPase protein present in the outer mitochondrial membrane and responsible for regulation of mitochondrial network architecture via the fusion of mitochondria. As that fusion process is known to be strongly dependent on the GTPase activity of mitofusin 2, it is postulated that the MFN2 mutation within the GTPase domain may lead to impaired GTPase activity, and in turn to mitochondrial dysfunction. The work described here has therefore sought to verify the effects of MFN2 mutation within its GTPase domain on mitochondrial and e…