Search results for "Biologia molecular"
showing 10 items of 68 documents
Native-Invasive Plants vs. Halophytes in Mediterranean Salt Marshes: Stress Tolerance Mechanisms in Two Related Species
2016
Dittrichia viscosa is a Mediterranean ruderal species that over the last decades has expanded into new habitats, including coastal salt marshes, ecosystems that are per se fragile and threatened by human activities. To assess the potential risk that this native-invasive species represents for the genuine salt marsh vegetation, we compared its distribution with that of Inula crithmoides, a taxonomically related halophyte, in three salt marshes located in “La Albufera” Natural Park, near the city of Valencia (East Spain). The presence of D. viscosa was restricted to areas of low and moderate salinity, while I. crithmoides was also present in the most saline zones of the salt marshes. Analyses…
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…
The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and…
2018
[EN] Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells, with crucial implications for human pathophysiology. In mammals, this family consists of four members (JPH1-JPH4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological functions in skeletal and cardiac muscles and in neurons. Moreover, mutations in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathies; mutations in JPH3 are responsible for the neurodegenerative Huntington's disease-like-2 (HDL2), whereas JPH1 acts as a genetic modifier in C…
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their p…
2020
IntroductionThe Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with ‘Mental Retardation Autosomal Dominant 57’ (MRD57, MIM# 618050), a neurodevelopmental disorder characterised by a highly variable phenotype, including mild-to-moderate intellectual disability, behavioural abnormalities, facial dysmorphisms, microcephaly, epilepsy and skeletal anomalies.MethodsWe re-evaluate whole exome sequencing and array-CGH data from a large cohort of patients affected by neurodevelopmental disorders. Using spatial proteomics (BioID) and…
Evidence of the Red-Queen Hypothesis from Accelerated Rates of Evolution of Genes Involved in Biotic Interactions in Pneumocystis.
2018
Pneumocystis species are ascomycete fungi adapted to live inside the lungs of mammals. These ascomycetes show extensive stenoxenism, meaning that each species of Pneumocystis infects a single species of host. Here, we study the effect exerted by natural selection on gene evolution in the genomes of three Pneumocystis species. We show that genes involved in host interaction evolve under positive selection. In the first place, we found strong evidence of episodic diversifying selection in Major surface glycoproteins (Msg). These proteins are located on the surface of Pneumocystis and are used for host attachment and probably for immune system evasion. Consistent with their function as antigen…
Evolutionary Analysis of DELLA-Associated Transcriptional Networks
2017
DELLA proteins are transcriptional regulators present in all land plants which have been shown to modulate the activity of over 100 transcription factors in Arabidopsis, involved in multiple physiological and developmental processes. It has been proposed that DELLAs transduce environmental information to pre-wired transcriptional circuits because their stability is regulated by gibberellins (GAs), whose homeostasis largely depends on environmental signals. The ability of GAs to promote DELLA degradation coincides with the origin of vascular plants, but the presence of DELLAs in other land plants poses at least two questions: what regulatory properties have DELLAs provided to the behavior of…
alpha 2-COP is involved in early secretory traffic in Arabidopsis and is required for plant growth
2017
[EN] COP (coat protein) I-coated vesicles mediate intra-Golgi transport and retrograde transport from the Golgi to the endoplasmic reticulum. These vesicles form through the action of the small GTPase ADP-ribosylation factor 1 (ARF1) and the COPI heptameric protein complex (coatomer), which consists of seven subunits (alpha-, beta-, beta' -, gamma-, delta-, epsilon- and xi-COP). In contrast to mammals and yeast, several isoforms for coatomer subunits, with the exception of gamma and delta, have been identified in Arabidopsis. To understand the role of COPI proteins in plant biology, we have identified and characterized a loss-of-function mutant of alpha 2-COP, an Arabidopsis alpha-COP isofo…
Caracterización de mutaciones identificadas en el sistema de la proteína C: Asociación con el riesgo trombótico y estudio de su interacción con otros…
2010
INTRODUCCIÓN: La vía anticoagulante de la proteína C (PC) es un potente mecanismo fisiológico antitrombótico. Prueba de ello es que la mayoría de los factores de riesgo trombótico de origen genético conocidos, se localizan en las proteínas que componen esta vía o bien en aquellas que modulan su actividad. OBJETIVOS: Nos planteamos caracterizar las principales mutaciones identificadas en los genes que codifican para los dos receptores endoteliales implicados en la activación de la PC, el receptor endotelial de la PC (EPCR) y la trombomodulina (TM), con la finalidad de conocer cómo modifican el riesgo de tromboembolismo venoso (TEV) en pacientes consecutivos o en individuos que ya tienen un f…
Studies on puupehenone-metabolites of a Dysidea sp.: structure and biological activity
2007
[EN] Puupchenone (1) and a series of its congeners (2-6) have been isolated from a Dysidea sponge. The unprecedented 20-acetoxyhater-unnadienone (2) exhibiting a five-membered contracted ring, has been characterized. In addition, stereochemical assignment of two previously reported acetone adducts of puupehenone (5 and 6) has been made. Finally, the inhibition of mitochondrial respiratory chain as well as antibacterial and antifungal activities of all compounds has been evaluated. (c) 2006 Elsevier Ltd. All rights reserved.
Aceites esenciales: productos antimicrobianos y antioxidantes naturales en la industria agroalimentaria
2020
[ES] Los consumidores son conscientes del peligro derivado del uso de antioxidantes y antimicrobianos sintéticos en la industria agroalimentaria, demandando alternativas más seguras y ecológicas. En este estudio, se ha determinado la actividad antioxidante de aceites esenciales comerciales mediante el método DPPH y su efecto antimicrobiano frente a la bacteria Pseudomonas syringae y el hongo fitopatógeno Fusarium oxysporum a través del empleo del método estandarizado de disco. Los aceites esenciales de clavo, ajedrea, canela y orégano, así como carvacrol, mostraron la máxima actividad antioxidante, comparable a antioxidantes establecidos. El aceite esencial de gaulteria fue el más potente i…