The redshift and broad band spectral energy distribution of NRAO 150

Context. NRAO 150 is one of the brightest radio and mm AGN sources on the northern sky. It has been revealed as an interesting source where to study extreme relativistic jet phenomena. However, its cosmological distance has not been reported so far, because of its optical faintness produced by strong Galactic extinction. Aims. Aiming at measuring the redshift of NRAO 150, and hence to start making possible quantitative studies from the source. Methods. We have conducted spectroscopic and photometric observations of the source in the near-IR, as well as in the optical. Results. All such observations have been successful in detecting the source. The near-IR spectroscopic observations reveal strong H$\alpha$ and H$\beta$ emission lines from which the cosmological redshift of NRAO 150 ($z=1.517\pm0.002$) has been determined for the first time. We classify the source as a flat-spectrum radio-loud quasar, for which we estimate a large super-massive black-hole mass $\sim5\times 10^{9} \mathrm{M_\odot}$. After extinction correction, the new near-IR and optical data have revealed a high-luminosity continuum-emission excess in the optical (peaking at $\sim2000$\,\AA, rest frame) that we attribute to thermal emission from the accretion disk for which we estimate a high accretion rate, $\sim30$\,% of the Eddington limit. Conclusions. Comparison of these source properties, and its broad-band spectral-energy distribution, with those of Fermi blazars allow us to predict that NRAO 150 is among the most powerful blazars, and hence a high luminosity -although not detected yet- $\gamma$-ray emitter.Comment: 8 pages, 4 figure

Búsqueda de nuevas dianas terapéuticas en Acinetobacter baumannii mediante la identificación de genes metabólicos implicados en la virulencia e infección

Motivación: Las infecciones nosocomiales son un problema clínico de creciente importancia para la salud pública cuyo coste asociado es muy elevado [1]. Acinetobacter baumannii es un bacilo aerobio Gram negativo causante de un gran número de estas infecciones, provocando pneumonia y bacteremia con una alta mortalidad [2]. La emergencia global de cepas multirresistentes dificulta el tratamiento clínico de las infecciones y la industria farmacéutica ha reducido su interés en el desarrollo de nuevos antibióticos [3]. Por ello, es necesario identificar y caracterizar genes de A. baumannii para el desarrollo de nuevos antimicrobianos y vacunas.Métodos: Se usa una librería de 9000 mutantes de A. baumannii ATCC 17978 creada por mutagénesis aleatoria por la inserción del transposón EZ-Tn5<R6Kori/KAN>tnp en el genoma, lo que proporciona resistencia a kanamicina. Se realizó un screening en medio mínimo (M9), que simula las condiciones presentes en el huésped durante la infección, para determinar las cepas mutantes funcionalmente deficientes, y en distintos antibióticos, para caracterizar el mecanismo de resistencia de este patógeno.Resultados: 57 mutantes de 5100 no mostraron crecimiento en M9 tras la incubación a 37°C durante 5 días. Los productos génicos presentaban la siguiente localización: 50 proteínas citoplasmáticas (87,72%), 5 de la membrana citoplasmática (8,77%) y 2 proteínas con una localización subcelular desconocida (3,51%). De estas proteínas, 27 participan en el metabolismo de aminoácidos (47,37%), 8 en el metabolismo de carbohidratos (14,04%), 3 en la síntesis/reparación del ADN (5,26%), 2 en el procesamiento del ADN/ARN (3,51%), 1 es una proteína de un sistema de dos componentes (1,75%), 1 en la síntesis del peptidoglicano (1,75%), 1 en el metabolismo de ácidos grasos (1,75%), 9 en procesos de producción energética (15,79%), 1 en el transporte celular y 4 con función desconocida (7,02%). Además, en el screening de toda la librería en distintos antibióticos se han encontrado 2 genes de resistencia a fosfomicina y 5 a ciprofloxacina.Conclusiones: Se han identificado genes requeridos para el crecimiento de A.baumannii en condiciones de limitación de nutrientes. Las proteínas codificadas por estos genes son potenciales dianas para el desarrollo de nuevos agentes antimicrobianos. Además, se han identificado genes de resistencia a fosfomicina y ciprofloxacina, lo que permitirá caracterizar el mecanismo de resistencia de A.baumannii a estos antibióticos

The dynamical mass of the white dwarf in XY Ari questions intermediate polar X-ray spectral models

We present a dynamical study of the eclipsing intermediate polar XY Ari based on time-resolved near-infrared spectroscopy obtained with the EMIR spectrograph on the 10.4-m Gran Telescopio Canarias. Using main sequence template spectra taken with the same instrument setup as the target spectra, we measure a radial velocity amplitude of the late K-type donor star $K_2=256 \pm 2$ km s$^{-1}$. We also obtain the rotational broadening of its photospheric lines $v_\mathrm{rot} \sin i = 141 \pm 3$ km s$^{-1}$. From these and the eclipse geometry, we derive a donor-to-white dwarf mass ratio $q = M_2/M_1 = 0.62 \pm 0.02$, an orbital inclination $i = 80.8^{\circ} \pm 0.5^{\circ}$ and dynamical masses $M_{1} = 1.21 \pm 0.04 \, \mathrm{M}_{\odot}$ and $M_2 = 0.75 \pm 0.04 \, \mathrm{M}_{\odot}$ ($1 \sigma$). This result places the white dwarf in XY Ari as one of the three most massive known in a cataclysmic variable. Comparison with a number of white dwarf mass estimates from X-ray spectral modelling indicates the necessity of a major revision of the cooling models currently assumed for magnetic accretion in intermediate polars, as most of the X-ray white dwarf masses lie significantly below the dynamical mass value.Comment: 9 pages, 4 figures, 5 tables, submitted for publication in MNRA

ISO 50001: 2018 and Its Application in a Comprehensive Management System with an Energy-Performance Focus

[EN] Business progress and human development are linked to the efficient management of energy resources. The research in this paper contributes to the generalized application of good practices that reduce the vulnerability of companies. The research focuses on energy efficiency through comprehensive management systems (CMS), and "thought based on risks and opportunities", considering the discussion about the revision of ISO 50001:2018, the basic approach of the model and the route to implement CMS for quality, safety and health in the workplace, environmental management, energy efficiency, and other risk components. This implementation route, with the acronym CMS QHSE3+, places special emphasis on the functions of strategic planning, operational and risk management, and controls, as well as on deliverables and references to examples, templates, standards, and documents, to facilitate its application general in small and medium enterprises and in the management of energy efficiency.We express our gratitude for the support received, to CAJACOPI ATLÁNTICO, QUARA Group, ASTEQ Technology, Simón Bolivar University, the Universitat Politècnica de València, SANTO TORIBIO Business Group, and to all the personalities and companies who offered us their contributions and their valuable points of view.Poveda-Orjuela, PP.; García-Díaz, JC.; Pulido-Rojano, A.; Cañón-Zabala, G. (2019). ISO 50001: 2018 and Its Application in a Comprehensive Management System with an Energy-Performance Focus. 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International Journal of Production Economics, 173, 66-79. doi:10.1016/j.ijpe.2015.12.007Thekdi, S., & Aven, T. (2016). An enhanced data-analytic framework for integrating risk management and performance management. Reliability Engineering & System Safety, 156, 277-287. doi:10.1016/j.ress.2016.07.010Aven, T., & Krohn, B. S. (2014). A new perspective on how to understand, assess and manage risk and the unforeseen. Reliability Engineering & System Safety, 121, 1-10. doi:10.1016/j.ress.2013.07.005Wilson, J. P., & Campbell, L. (2018). ISO 9001:2015: the evolution and convergence of quality management and knowledge management for competitive advantage. Total Quality Management & Business Excellence, 31(7-8), 761-776. doi:10.1080/14783363.2018.1445965Ciravegna Martins da Fonseca, L. M. (2015). ISO 14001:2015: An improved tool for sustainability. Journal of Industrial Engineering and Management, 8(1). doi:10.3926/jiem.1298Cosgrove, J., Littlewood, J., & Wilgeroth, P. (2017). Development of a framework of key performance indicators to identify reductions in energy consumption in a medical devices production facility. International Journal of Ambient Energy, 39(2), 202-210. doi:10.1080/01430750.2017.1278718Castrillón Mendoza, R., Rey Hernández, J., Velasco Gómez, E., San José Alonso, J., & Rey Martínez, F. (2018). Analysis of the Methodology to Obtain Several Key Indicators Performance (KIP), by Energy Retrofitting of the Actual Building to the District Heating Fuelled by Biomass, Focusing on nZEB Goal: Case of Study. Energies, 12(1), 93. doi:10.3390/en12010093Chiu, T.-Y., Lo, S.-L., & Tsai, Y.-Y. (2012). Establishing an Integration-Energy-Practice Model for Improving Energy Performance Indicators in ISO 50001 Energy Management Systems. Energies, 5(12), 5324-5339. doi:10.3390/en5125324Laskurain, I., Ibarloza, A., Larrea, A., & Allur, E. (2017). Contribution to Energy Management of the Main Standards for Environmental Management Systems: The Case of ISO 14001 and EMAS. Energies, 10(11), 1758. doi:10.3390/en10111758Al-Sakkaf, S., Kassas, M., Khalid, M., & Abido, M. A. (2019). An Energy Management System for Residential Autonomous DC Microgrid Using Optimized Fuzzy Logic Controller Considering Economic Dispatch. Energies, 12(8), 1457. doi:10.3390/en12081457Zobel, T., & Malmgren, C. (2016). Evaluating the Management System Approach for Industrial Energy Efficiency Improvements. Energies, 9(10), 774. doi:10.3390/en9100774Laskurain, I., Heras-Saizarbitoria, I., & Casadesús, M. (2015). Fostering renewable energy sources by standards for environmental and energy management. Renewable and Sustainable Energy Reviews, 50, 1148-1156. doi:10.1016/j.rser.2015.05.050Stoeglehner, G., Niemetz, N., & Kettl, K.-H. (2011). Spatial dimensions of sustainable energy systems: new visions for integrated spatial and energy planning. Energy, Sustainability and Society, 1(1). doi:10.1186/2192-0567-1-2Calvillo, C. F., Sánchez-Miralles, A., & Villar, J. (2016). Energy management and planning in smart cities. Renewable and Sustainable Energy Reviews, 55, 273-287. doi:10.1016/j.rser.2015.10.133Blaauwbroek, N., Nguyen, P. H., Konsman, M. J., Shi, H., Kamphuis, R. I. G., & Kling, W. L. (2015). Decentralized Resource Allocation and Load Scheduling for Multicommodity Smart Energy Systems. IEEE Transactions on Sustainable Energy, 6(4), 1506-1514. doi:10.1109/tste.2015.2441107Mao, M., Jin, P., Hatziargyriou, N. D., & Chang, L. (2014). Multiagent-Based Hybrid Energy Management System for Microgrids. IEEE Transactions on Sustainable Energy, 1-1. doi:10.1109/tste.2014.2313882Carli, R., & Dotoli, M. (2019). Decentralized control for residential energy management of a smart users microgrid with renewable energy exchange. IEEE/CAA Journal of Automatica Sinica, 6(3), 641-656. doi:10.1109/jas.2019.1911462The ISO 27k Forumhttps://www.iso27001 security.com/html/iso27000.htmlIntroduction to the Basic Concepts of General Systems Theory. Cinta de Moebiohttp://www.redalyc.org/articulo.oa?id=10100306Von Bertalanffy, L. (1950). The Theory of Open Systems in Physics and Biology. Science, 111(2872), 23-29. doi:10.1126/science.111.2872.23Hernandis Ortuño, B., & Briede Westermeyer, J. C. (2009). AN EDUCATIONAL APPLICATION FOR A PRODUCT DESIGN AND ENGINEERING SYSTEMS USING INTEGRATED CONCEPTUAL MODELS. Ingeniare. Revista chilena de ingeniería, 17(3). doi:10.4067/s0718-33052009000300017Howard, T. J., Culley, S. J., & Dekoninck, E. (2008). Describing the creative design process by the integration of engineering design and cognitive psychology literature. Design Studies, 29(2), 160-180. doi:10.1016/j.destud.2008.01.001Conceptual Model and Route to Implement a Comprehensive Management System QHSE3+, in New Trends in Operations Research and Administrative Sciences. An Approach from Latin American Studieshttps://bonga.unisimon.edu.co/handle/20.500.12442/2601Golini, R., Kalchschmidt, M., & Landoni, P. (2015). Adoption of project management practices: The impact on international development projects of non-governmental organizations. International Journal of Project Management, 33(3), 650-663. doi:10.1016/j.ijproman.2014.09.006Marcelino-Sádaba, S., González-Jaen, L. F., & Pérez-Ezcurdia, A. (2015). Using project management as a way to sustainability. From a comprehensive review to a framework definition. Journal of Cleaner Production, 99, 1-16. doi:10.1016/j.jclepro.2015.03.020Archer, N. ., & Ghasemzadeh, F. (1999). An integrated framework for project portfolio selection. International Journal of Project Management, 17(4), 207-216. doi:10.1016/s0263-7863(98)00032-5Velásquez-Restrepo, S. M., Londoño-Gallego, J. A., López-Romero, C., & Vahos, J. D. (2018). Desarrollo de una plataforma web multimedial para la elaboración de proyectos bajo la metodología de marco lógico. Lámpsakos, 1(18), 12. doi:10.21501/21454086.2601Crawford, P., & Bryce, P. (2003). Project monitoring and evaluation: a method for enhancing the efficiency and effectiveness of aid project implementation. International Journal of Project Management, 21(5), 363-373. doi:10.1016/s0263-7863(02)00060-1San Cristóbal, J. R., Carral, L., Diaz, E., Fraguela, J. A., & Iglesias, G. (2018). Complexity and Project Management: A General Overview. Complexity, 2018, 1-10. doi:10.1155/2018/4891286Ramasesh, R. V., & Browning, T. R. (2014). A conceptual framework for tackling knowable unknown unknowns in project management. Journal of Operations Management, 32(4), 190-204. doi:10.1016/j.jom.2014.03.003Pollack, J. (2007). The changing paradigms of project management. International Journal of Project Management, 25(3), 266-274. doi:10.1016/j.ijproman.2006.08.002Lamers, M. (2002). Do you manage a project, or what? A reply to «Do you manage work, deliverables or resources», International Journal of Project Management, April 2000. International Journal of Project Management, 20(4), 325-329. doi:10.1016/s0263-7863(00)00053-3Torabi, S. A., Giahi, R., & Sahebjamnia, N. (2016). An enhanced risk assessment framework for business continuity management systems. Safety Science, 89, 201-218. doi:10.1016/j.ssci.2016.06.015Baccarini, D. (1999). The Logical Framework Method for Defining Project Success. Project Management Journal, 30(4), 25-32. doi:10.1177/875697289903000405Casals, M., Gangolells, M., Forcada, N., Macarulla, M., Giretti, A., & Vaccarini, M. (2016). SEAM4US: An intelligent energy management system for underground stations. Applied Energy, 166, 150-164. doi:10.1016/j.apenergy.2016.01.029Matrawy, K. K., Mahrous, A.-F., & Youssef, M. S. (2015). Energy management and parametric optimization of an integrated PV solar house. Energy Conversion and Management, 96, 377-383. doi:10.1016/j.enconman.2015.02.088Kyriakarakos, G., Dounis, A. I., Arvanitis, K. G., & Papadakis, G. (2012). A fuzzy logic energy management system for polygeneration microgrids. Renewable Energy, 41, 315-327. doi:10.1016/j.renene.2011.11.019Johansson, M. T., & Thollander, P. (2018). A review of barriers to and driving forces for improved energy efficiency in Swedish industry– Recommendations for successful in-house energy management. Renewable and Sustainable Energy Reviews, 82, 618-628. doi:10.1016/j.rser.2017.09.052Jovanović, B., & Filipović, J. (2016). ISO 50001 standard-based energy management maturity model – proposal and validation in industry. Journal of Cleaner Production, 112, 2744-2755. doi:10.1016/j.jclepro.2015.10.023Majernik, M., Bosak, M., Stofova, L., & Szaryszova, P. (2015). INNOVATIVE MODEL OF INTEGRATED ENERGY MANAGEMENT IN COMPANIES. Quality Innovation Prosperity, 19(1). doi:10.12776/qip.v19i1.384Implementation of ISO 50001 in Industry in The Netherlands. ECEE Industry Summer Studywww.eceee.orgDe Groot, H. L. F., Verhoef, E. T., & Nijkamp, P. (2001). Energy saving by firms: decision-making, barriers and policies. Energy Economics, 23(6), 717-740. doi:10.1016/s0140-9883(01)00083-4Development of the EMAS Sectoral Reference Documents on Best Environmental Management Practice. Learning from Frontrunners Promoting Best Practice. Publications Office of the European Unionhttps://publications.jrc.ec.europa.eu/repository/bitstream/JRC84966/lfna26291enn.pd

Non-destructive Techniques Methodologies for the Detection of Ancient Structures under Heritage Buildings

[EN] Structures and elements buried beneath heritage buildings are frequent but are often unknown and inaccessible. Therefore, they are difficult to locate in general if an archaeological excavation is not carried out, with the economic cost and time involved. It is important to discover them in order to increase our knowledge of cultural heritage, as well as to know, recover and improve the state of conservation of the materials that make up these structures. This paper presents methodologies for locating old structures using a low-cost NDT approach, with a qualitative and quantitative analysis of GPR profiles in heritage buildings. Small perforations are performed at critical points and introducing an endoscope for verification. Various crypts have been located using the proposed methodologies in a real study case: The Church of the Asución of Llíria in Spain.Gil Benso, E.; Mas Tomas, MDLA.; Lerma Elvira, C.; Torner, ME.; Vercher Sanchis, J. (2021). Non-destructive Techniques Methodologies for the Detection of Ancient Structures under Heritage Buildings. International journal of architectural heritage (electronic). 15(10):1457-1473. https://doi.org/10.1080/15583058.2019.1700320S14571473151

Bow shocks, nova shells, disc winds and tilted discs: the nova-like V341 Ara has it all

V341 Ara was recently recognized as one of the closest (d ≃ 150 pc) and brightest (V ≃ 10) nova-like cataclysmic variables. This unique system is surrounded by a bright emission nebula, likely to be the remnant of a recent nova eruption. Embedded within this nebula is a prominent bow shock, where the system’s accretion disc wind runs into its own nova shell. In order to establish its fundamental properties, we present the first comprehensive multiwavelength study of the system. Long-term photometry reveals quasi-periodic, super-orbital variations with a characteristic time-scale of 10–16 d and typical amplitude of ≃1 mag. High-cadence photometry from theTransiting Exoplanet Survey Satellite (TESS) reveals for the first time both the orbital period and a ‘negative superhump’ period. The latter is usually interpreted as the signature of a tilted accretion disc. We propose a recently developed disc instability model as a plausible explanation for the photometric behaviour. In our spectroscopic data, we clearly detect antiphased absorption and emission-line components. Their radial velocities suggest a high mass ratio, which in turn implies an unusually low white-dwarf mass. We also constrain the wind mass-loss rate of the system from the spatially resolved [O III] emission produced in the bow shock; this can be used to test and calibrate accretion disc wind models. We suggest a possible association between V341 Ara and a ‘guest star’ mentioned in Chinese historical records in AD 1240. If this marks the date of the system’s nova eruption, V341 Ara would be the oldest recovered nova of its class and an excellent laboratory for testing nova theory

Revista de Vertebrados de la Estación Biológica de Doñana

Clave preliminar de las escamas de los peces de agua dulce de España, a nivel de familiaExito reproductor del Buitre leonado (Gyps fulvus) en NavarraAlimentación del Gavilán (Accipiter nisus) en la Isla de TenerifeEl Verdecillo (Serinus serinus): Tendencias en la estación de nidificación, en el tamaño del huevo y en la supervivencia.las batidas como método de censo en especiesde caza mayor: aplicación al caso del Jabalí (Sus scrofa L.) en la provincia de Burgos (Norte de España)La adquisición de madurez sexual en el camaleón común (Chamaeleo chamaeleon)Nuevas citas de Hemidactylus turcicus en la provincia de CáceresLa focha común (Fulica atra) en la isla de Gran Canaria: nueva especie nidificante en el archipiélago CanarioTraslado de huevos en incubación por la urraca (Pica pica)Predación de Falco peregrinus sobre Oryctolagus cuniculusCuatro nuevas especies de aves para Bolivia.Sobre la utilización de nidos de golondrina común abandonados.Parasitismo múltiple del críalo (Clamator glandarius)Predación del topo de rio (Galemys pyrenaicus, Geoffroy 1811) por parte de la lechuza común (Tyto alba, Scopoli 1769)Predación del zorro (Vulpes vulpes) sobre un pollo de buitre leonado (Gyps fulvus).Vulpes vulpes L. criando en una colonia de marmota (Marmota marmota L.) en el pirineo de LéridaObservaciones sobre la incidencia de Rattus (Fischer, 1803) en los cultivos ibéricos de caña de azúcaSituación actual de la jutiita de la tierra Capromys sanfelipensis (Rodentia, Mammalia)Notas sobre la intraducción y expansión de la ardilla común en Sierra Nevada, sureste de EspañaPeer reviewe

Caribbean Corals in Crisis: Record Thermal Stress, Bleaching, and Mortality in 2005

BACKGROUND The rising temperature of the world's oceans has become a major threat to coral reefs globally as the severity and frequency of mass coral bleaching and mortality events increase. In 2005, high ocean temperatures in the tropical Atlantic and Caribbean resulted in the most severe bleaching event ever recorded in the basin. METHODOLOGY/PRINCIPAL FINDINGS Satellite-based tools provided warnings for coral reef managers and scientists, guiding both the timing and location of researchers' field observations as anomalously warm conditions developed and spread across the greater Caribbean region from June to October 2005. Field surveys of bleaching and mortality exceeded prior efforts in detail and extent, and provided a new standard for documenting the effects of bleaching and for testing nowcast and forecast products. Collaborators from 22 countries undertook the most comprehensive documentation of basin-scale bleaching to date and found that over 80% of corals bleached and over 40% died at many sites. The most severe bleaching coincided with waters nearest a western Atlantic warm pool that was centered off the northern end of the Lesser Antilles. CONCLUSIONS/SIGNIFICANCE Thermal stress during the 2005 event exceeded any observed from the Caribbean in the prior 20 years, and regionally-averaged temperatures were the warmest in over 150 years. Comparison of satellite data against field surveys demonstrated a significant predictive relationship between accumulated heat stress (measured using NOAA Coral Reef Watch's Degree Heating Weeks) and bleaching intensity. This severe, widespread bleaching and mortality will undoubtedly have long-term consequences for reef ecosystems and suggests a troubled future for tropical marine ecosystems under a warming climate.This work was partially supported by salaries from the NOAA Coral Reef Conservation Program to the NOAA Coral Reef Conservation Program authors. NOAA provided funding to Caribbean ReefCheck investigators to undertake surveys of bleaching and mortality. Otherwise, no funding from outside authors' institutions was necessary for the undertaking of this study. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

Hydrophilic antioxidant compounds in orange juice from different fruit cultivars: Composition and antioxidant activity evaluated by chemical and cellular based (Saccharomyces cerevisiae) assays

Antioxidant capacity was evaluated by a cellular model (Saccharomyces cerevisiae) and chemical methods (FRAP, TEAC and total phenols by Folin-Ciocalteu assay) in the hydrophilic fraction (phenolic compounds and ascorbic acid) of orange juices (OJs) from six varieties (Midknight, Delta Seedless, Rohde Red, Seedless, Early and clone Sambiasi), harvested in two seasons. The contents of phenolic compounds and ascorbic acid analyzed, respectively, by UPLC and HPLC were 370.04 76.97 mg/L and 52.05 6.69 mg/100 mL. Variety and season significantly influenced (p < 0.05) composition and antioxidant capacity. TEAC and FRAP values correlated well with individual hydrophilic compounds (R2 > 0.991) but no correlation with cellular assay was observed. An increase in survival rates between 23% and 38% was obtained, excepting for two varieties that showed no activity (Rohde Red and Seedless). Narirutin, naringin-d, ferulic acid-d2, didymin, neoeriocitrin and sinapic acid hexose and caffeic acid-d1 were the phenolic compounds which contributed to survival rates (R2 = 0.979, p < 0.01

A pathogenic role for germline PTEN variants which accumulate into the nucleus.

The PTEN gene encodes a master regulator protein that exerts essential functions both in the cytoplasm and in the nucleus. PTEN is mutated in the germline of both patients with heterogeneous tumor syndromic diseases, categorized as PTEN hamartoma tumor syndrome (PHTS), and a group affected with autism spectrum disorders (ASD). Previous studies have unveiled the functional heterogeneity of PTEN variants found in both patient cohorts, making functional studies necessary to provide mechanistic insights related to their pathogenicity. Here, we have functionally characterized a PTEN missense variant [c.49C>G; p.(Gln17Glu); Q17E] associated to both PHTS and ASD patients. The PTEN Q17E variant displayed partially reduced PIP3-catalytic activity and normal stability in cells, as shown using S. cerevisiae and mammalian cell experimental models. Remarkably, PTEN Q17E accumulated in the nucleus, in a process involving the PTEN N-terminal nuclear localization sequence. The analysis of additional germline-associated PTEN N-terminal variants illustrated the existence of a PTEN N-terminal region whose targeting in disease causes PTEN nuclear accumulation, in parallel with defects in PIP3-catalytic activity in cells. Our findings highlight the frequent occurrence of PTEN gene mutations targeting PTEN N-terminus whose pathogenicity may be related, at least in part, with the retention of PTEN in the nucleus. This could be important for the implementation of precision therapies for patients with alterations in the PTEN pathway