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1.
Anal Methods ; 16(33): 5652-5664, 2024 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-39109659

RESUMEN

The intricate composition of microalgal pigments plays a crucial role in various biological processes, from photosynthesis to biomarker identification. Traditional pigment analysis methods involve complex extraction techniques, posing challenges in maintaining analyte integrity. In this study, we employ Electron Transfer Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry (ET-MALDI-MS) to compare the pigmentary profiles of Chlorella vulgaris intact cells, chloroplasts, and solvent extracts. We aim to obtain comprehensive extracts rich in polar and non-polar compounds using ultrasound-assisted and supercritical fluid extraction methods. Additionally, intact chloroplasts are isolated using a lysis buffer and sucrose density gradient centrifugation. Our ET-MALDI-MS analysis reveals distinct compositional differences, highlighting the impact of extraction protocols on microalgal pigment identification. We observe prominent signals corresponding to radical cations of key pigments, including chlorophylls and carotenoids, which are crucial for C. vulgaris identification. Furthermore, ET-MALDI-MS facilitates the identification of specific lipids within chloroplast membranes and other organelles. This study underscores the rapid and precise nature of ET-MALDI-MS in microalgal biomarker analysis, providing valuable insights into phytoplankton dynamics, trophic levels, and environmental processes. C. vulgaris emerges as a promising model for studying pigment composition and membrane lipid diversity, enhancing our understanding of microalgal ecosystems.


Asunto(s)
Chlorella vulgaris , Cloroplastos , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción , Chlorella vulgaris/química , Chlorella vulgaris/metabolismo , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción/métodos , Cloroplastos/química , Cloroplastos/metabolismo , Carotenoides/análisis , Carotenoides/química , Clorofila/análisis , Clorofila/química , Pigmentos Biológicos/análisis , Pigmentos Biológicos/química
4.
RSC Adv ; 13(19): 12712-12722, 2023 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-37101532

RESUMEN

Cacao pod husks (CHs), the most abundant by-product of cacao beans production, can potentially become a source of functional ingredients for the food, cosmetic, and pharmaceutical industries. Three pigment samples (yellow, red, and purple) from lyophilized and ground cacao pod husk epicarp (CHE), were isolated by ultrasound-assisted solvent extraction, with yields between 11 and 14 wt%. The pigments exhibited UV-Vis flavonoid-related absorption bands at 283 nm and 323 nm and, only for the purple extract, reflectance bands in the 400-700 nm range. As per the Folin-Ciocalteu method, the CHE extracts contain high yields of antioxidant phenolic compounds amounting to 161.6, 153.9, and 167.9 mg GAE per g extract for the yellow, red, and purple samples, respectively. Phloretin, quercetin, myricetin, jaceosidin, and procyanidin B1 were among the main flavonoids identified by MALDI-TOF MS. A biopolymeric bacterial-cellulose matrix can effectively retain up to 541.8 mg of CHE extract per g of cellulose in dry weight. Also, MTT assays revealed that CHE extracts are non-toxic and increase viability in cultured VERO cells.

5.
MethodsX ; 10: 102140, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37007620

RESUMEN

The method describes pigment analysis from microalgae/phytoplankton extracts using electron-transfer Matrix-Assisted Laser Desorption Ionization Mass Spectrometry (ET MALDI MS). Current microalgae/phytoplankton pigment analysis requires resource- and time-intensive chromatographic methods due to the broad polarity range of the target analytes. On the other hand, traditional MALDI MS chlorophyll analysis, using proton-transfer matrices such as 2,5-dihydroxybenzoic acid (DHB) or α-cyano-4-hydroxycinnamic acid (CHCA), results in central metal loss and phytol-ester cleavage. ET MALDI MS is an alternative for the rapid screening and detection of pigments in microalgae extracts.•MALDI matrices with ionization energies above 8.0 eV guarantee electron-transfer processes from photosynthetic and photoprotective pigments whose ionization energies lay below 7.5 eV.•ET MALDI MS pigment analysis agrees with data gathered from conventional chromatographic techniques (HPLC) and optical microscopy for pigment extracts from C. vulgaris cultures and freshwater phytoplankton samples.•The ET MALDI MS method allows fast and reliable detection of pigments in microalgae cultures and freshwater phytoplankton samples.

6.
Front Plant Sci ; 12: 780562, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34899808

RESUMEN

Oat, Avena sativa, is an important crop traditionally grown in cool-temperate regions. However, its cultivated area in the Mediterranean rim steadily increased during the last 20 years due to its good adaptation to a wide range of soils. Nevertheless, under Mediterranean cultivation conditions, oats have to face high temperatures and drought episodes that reduce its yield as compared with northern regions. Therefore, oat crop needs to be improved for adaptation to Mediterranean environments. In this work, we investigated the influence of climatic and edaphic variables on a collection of 709 Mediterranean landraces and cultivars growing under Mediterranean conditions. We performed genotype-environment interaction analysis using heritability-adjusted genotype plus genotype-environment biplot analyses to determine the best performing accessions. Further, their local adaptation to different environmental variables and the partial contribution of climate and edaphic factors to the different agronomic traits was determined through canonical correspondence, redundancy analysis, and variation partitioning. Here, we show that northern bred elite cultivars were not among the best performing accessions in Mediterranean environments, with several landraces outyielding these. While all the best performing cultivars had early flowering, this was not the case for all the best performing landraces, which showed different patterns of adaption to Mediterranean agroclimatic conditions. Thus, higher yielding landraces showed adaptation to moderate to low levels of rain during pre- and post-flowering periods and moderate to high temperature and radiation during post-flowering period. This analysis also highlights landraces adapted to more extreme environmental conditions. The study allowed the selection of oat genotypes adapted to different climate and edaphic factors, reducing undesired effect of environmental variables on agronomic traits and highlights the usefulness of variation partitioning for selecting genotypes adapted to specific climate and edaphic conditions.

7.
Plants (Basel) ; 9(9)2020 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-32932900

RESUMEN

Recently, phenotyping has become one of the main bottlenecks in plant breeding and fundamental plant science. This is particularly true for plant disease assessment, which has to deal with time-consuming evaluations and the subjectivity of visual assessments. In this work, we have developed an open source Robust, User-friendy Script Tool (RUST) for semi-automated evaluation of leaf rust diseases. RUST runs under the free Fiji imaging software (developed from ImageJ), which is a well-recognized software among the scientific community. The script enables the evaluation of leaf rust diseases using a color transformation tool and provides three different automation modes. The script opens images sequentially and records infection frequency (pustules per area) (semi-)automatically for high-throughput analysis. Furthermore, it can manage several scanned leaf segments in the same image, consecutively selecting the desired segments. The script has been validated with nearly 900 samples from 80 oat genotypes ranging from resistant to susceptible and from very light to heavily infected leaves showing a high accuracy with a Lin's concordance correlation coefficient of 0.99. The analysis show a high repeatability as indicated by the low variation coefficients obtained when repeating the measurement of the same samples. The script also has optional steps for calibration and training to ensure accuracy, even in low-resolution images. This script can evaluate efficiently hundreds of leaves facilitating the screening of novel sources of resistance to this important cereal disease.

8.
Dis Model Mech ; 12(9)2019 09 03.
Artículo en Inglés | MEDLINE | ID: mdl-31383797

RESUMEN

Reduced bone quality or mineral density predict susceptibility to fracture and also attenuate subsequent repair. Bone regrowth is also compromised by bacterial infection, which exacerbates fracture site inflammation. Because of the cellular complexity of fracture repair, as well as genetic and environmental influences, there is a need for models that permit visualisation of the fracture repair process under clinically relevant conditions. To characterise the process of fracture repair in zebrafish, we employed a crush fracture of fin rays, coupled with histological and transgenic labelling of cellular responses; the results demonstrate a strong similarity to the phased response in humans. We applied our analysis to a zebrafish model of osteogenesis imperfecta (OI), which shows reduced bone quality, spontaneous fractures and propensity for non-unions. We found deficiencies in the formation of a bone callus during fracture repair in our OI model and showed that clinically employed antiresorptive bisphosphonates can reduce spontaneous fractures in OI fish and also measurably reduce fracture callus remodelling in wild-type fish. The csf1ra mutant, which has reduced osteoclast numbers, also showed reduced callus remodelling. Exposure to excessive bisphosphonate, however, disrupted callus repair. Intriguingly, neutrophils initially colonised the fracture site, but were later completely excluded. However, when fractures were infected with Staphylococcus aureus, neutrophils were retained and compromised repair. This work elevates the zebrafish bone fracture model and indicates its utility in assessing conditions of relevance to an orthopaedic setting with medium throughput.This article has an associated First Person interview with the first author of the paper.


Asunto(s)
Fracturas Óseas/patología , Pez Cebra/fisiología , Alendronato/farmacología , Alendronato/uso terapéutico , Aletas de Animales/patología , Animales , Callo Óseo/efectos de los fármacos , Callo Óseo/patología , Difosfonatos/farmacología , Difosfonatos/uso terapéutico , Modelos Animales de Enfermedad , Curación de Fractura/efectos de los fármacos , Fracturas Óseas/tratamiento farmacológico , Fracturas Óseas/microbiología , Fracturas no Consolidadas/patología , Osteoclastos/efectos de los fármacos , Osteoclastos/patología , Osteogénesis Imperfecta/patología , Staphylococcus aureus/efectos de los fármacos , Staphylococcus aureus/fisiología
12.
Polymers (Basel) ; 9(12)2017 Dec 10.
Artículo en Inglés | MEDLINE | ID: mdl-30965996

RESUMEN

The aim of this article focuses on identifying how the addition of iron micro- and nanoparticles influences the physical properties of magnetorheological composite materials developed with a polydimethylsiloxane (PDMS) matrix with different contents of silicone oil used as additive. A number of characterization techniques have been performed in order to fully characterize the samples, such as cyclic and uniaxial extension, rheology, swelling, Vibrating sample magnetometer (VSM), X-ray Diffraction (XRD), Scanning electron microscopy (SEM), Fourier-Transform Infrared (FTIR), X-ray photoelectronic spectroscopy (XPS) and Thermogravimetric analysis (TGA). The comparison between two matrices with different shore hardnesses and their mechanical and chemical properties are elucidated by swelling and tensile tests. In fact, swelling tests showed that higher crosslink density leads to increasing elongation at break and tensile strength values for the composite materials. The best mechanical performance in the magnetorheological material was observed for those samples manufactured using a higher silicone oil content in a hard polymeric matrix. Furthermore, it has been found that the magnetic properties are enhanced when nanoparticles are used as fillers instead of microparticles.

13.
Eur J Med Chem ; 109: 238-46, 2016 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-26774929

RESUMEN

A systematic study with phase 1 and phase 2 metabolites of cholesterol and vitamin D was conducted to determine whether their biological activity is mediated by the vitamin D receptor (VDR). The investigation necessitated the development of novel synthetic routes for lithocholic acid (LCA) glucuronides (Gluc). Biochemical and cell-based assays were used to demonstrate that hydroxylated LCA analogs were not able to bind VDR. This excludes VDR from mediating their biological and pharmacological activities. Among the synthesized LCA conjugates a novel VDR agonist was identified. LCA Gluc II increased the expression of CYP24A1 in DU145 cancer cells especially in the presence of the endogenous VDR ligand 1,25(OH)2D3. Furthermore, the methyl ester of LCA was identified as novel VDR antagonist. For the first time, we showed that calcitroic acid, the assumed inactive final metabolite of vitamin D, was able to activate VDR-mediated transcription to a higher magnitude than bile acid LCA. Due to a higher metabolic stability in comparison to vitamin D, a very low toxicity, and high concentration in bile and intestine, calcitroic acid is likely to be an important mediator of the protective vitamin D properties against colon cancer.


Asunto(s)
Calcitriol/análogos & derivados , Colesterol/metabolismo , Glucuronatos/farmacología , Ácido Litocólico/farmacología , Receptores de Calcitriol/metabolismo , Transcripción Genética/efectos de los fármacos , Vitamina D/metabolismo , Calcitriol/síntesis química , Calcitriol/química , Calcitriol/farmacología , Línea Celular Tumoral , Glucuronatos/síntesis química , Glucuronatos/química , Humanos , Ácido Litocólico/síntesis química , Ácido Litocólico/química , Masculino , Neoplasias de la Próstata/metabolismo , Receptores de Calcitriol/agonistas , Vitamina D3 24-Hidroxilasa/metabolismo
14.
Span J Psychol ; 17: E33, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25012096

RESUMEN

Functional hemodynamic response was studied in a new Verbal Fluency Task (VFT) that demanded the production of geographical words while fMRI data was obtained. Participants completed 7 trials with a total duration of 2 min. 20 s. Four simple arithmetic subtraction trials were alternated with 3 geographical naming trials. Each trial had a duration of 20 s. Brain activity was contrasted between both conditions and significant differences (p < .05, Family Wise Error correction) were observed in the prefrontal medial gyrus, typically associated with word retrieval and phonological awareness, and in the parahippocampal gyrus, posterior cingulate cortex and lingual gyrus, areas related to spatial cognition. These results indicate that geographic VFT could be incorporated into a browser of cognitive processes using VFT considering its specific relationship with spatial cognition. Further investigations are proposed, taking special interest in the gender variable and eliminating phonological restrictions, because the evoked Argentinean cities and towns ended in a consonant letter.


Asunto(s)
Corteza Cerebral/fisiología , Función Ejecutiva/fisiología , Lenguaje , Percepción Espacial/fisiología , Adolescente , Adulto , Corteza Cerebral/irrigación sanguínea , Femenino , Hemodinámica/fisiología , Humanos , Imagen por Resonancia Magnética , Masculino , Adulto Joven
15.
Rev Enferm ; 37(4): 8-14, 2014 Apr.
Artículo en Español | MEDLINE | ID: mdl-24864410

RESUMEN

OBJECTIVE: Falls are the second leading cause of accidental or unintentional injury deaths worldwide, also, falls generate severe disabilities, institutionalization and increase healthcare costs. People with intellectual disabilities (ID) fall over frecuently. It's due to they are usually sicker than the rest of the population, and for environmental, professional and organizational factors. The aim of the study was to assess risk factors and injury due to falls. Also the methods of assessment and prevention of falls were analyzed. METHODOLOGY. It was carried out a literature review. We searched for articles in major biomedical databases and on the website of the Spanish Confederation of Organizations for Persons with Intellectual Disability (FEAPS). Sixteen studies were analyzed. The articles analyzed showed that age, history of seizures, gait and behavioral problems and environmental factors were the main risk factors for falling. Many fallers (84 6%) had suffered injuries. RESULTS/CONCLUSIONS: There is no consensus on an appropriate instrument to assess the risks factors and problems that cause falls. These instruments have not been validated in Spanish. A few suggestions found to prevent falls and injury in people with intellectual disability are based on educational and environmental approaches. The best way to contribute to the prevention could be research on intervention programs and organizational and staff characteristics. Nurses must lead these investigations.


Asunto(s)
Accidentes por Caídas/prevención & control , Discapacidad Intelectual/complicaciones , Humanos , Factores de Riesgo
16.
Rev. Rol enferm ; 37(4): 240-246, abr. 2014. tab, ilus
Artículo en Español | IBECS | ID: ibc-123623

RESUMEN

Objetivo. Las caídas son la segunda causa de muerte en el mundo por lesiones no intencionadas. Generan además graves incapacidades, son motivo de institucionalización y aumentan los costes sanitarios. Las personas con Discapacidad Intelectual (DI) suelen enfermar más y presentan condiciones que, junto con factores ambientales, profesionales y organizacionales, pueden hacerlas más propensas a las caídas. El objetivo del estudio ha sido evaluar los factores de riesgo y lesiones que acompañan a las personas con DI cuando se caen, además de analizar los mecanismos puestos en marcha para su evaluación y prevención. Metodología. Para ello se llevó a cabo una revisión bibliográfica. Se buscaron artículos en las principales bases de datos biomédicas y en la página web de la Confederación Española de Organizaciones a favor de las Personas con Discapacidad Intelectual (FEAPS). Resultados/Conclusiones. Los resultados de los dieciséis estudios analizados muestran que la edad, los problemas médicos recurrentes, un historial de convulsiones, problemas en la deambulación y de la conducta y ciertos aspectos ambientales se pueden considerar factores de riesgo para caerse. El 84% de las personas con DI que se caían sufrían lesiones. No existe consenso sobre un instrumento idóneo para evaluar las caídas o los problemas que las causan en esta población. Estos instrumentos no se han validado en España. Las pocas propuestas halladas para prevenir las caídas y lesiones en personas con Discapacidad Intelectual están basadas en enfoques educativos y ambientales. La Investigación sobre programas de intervención liderados por enfermeras, aspectos organizacionales y de personal pueden convertirse en la mejor herramienta de prevención (AU)


Objective. Falls are the second leading cause of accidental or unintentional injury deaths worldwide, also, falls generate severe disabilities, institutionalization and increase healthcare costs. People with intellectual disabilities (ID) fall over frecuently. It’s due to they are usually sicker than the rest of the population, and for environmental, professional and organizational factors. The aim of the study was to assess risk factors and injury due to falls. Also the methods of assessment and prevention of falls were analyzed. Methodology. It was carried out a literature review. We searched for articles in major biomedical databases and on the website of the Spanish Confederation of Organizations for Persons with Intellectual Disability (FEAPS). Sixteen studies were analyzed. The articles analyzed showed that age, history of seizures, gait and behavioral problems and environmental factors were the main risk factors for falling. Many fallers (84 %) had suffered injuries. Results/Conclusions. There is no consensus on an appropriate instrument to assess the risks factors and problems that cause falls. These instruments have not been validated in Spanish. A few suggestions found to prevent falls and injury in people with intellectual disability are based on educational and environmental approaches. The best way to contribute to the prevention could be research on intervention programs and organizational and staff characteristics. Nurses must lead these investigations (AU)


Asunto(s)
Humanos , Accidentes por Caídas/estadística & datos numéricos , Discapacidad Intelectual/complicaciones , Personas con Discapacidades Mentales/estadística & datos numéricos , Prevención de Accidentes/tendencias
17.
Rev. argent. cir. cardiovasc. (Impresa) ; 10(3): 148-152, sept.-dic. 2012. ilus, tab
Artículo en Español | LILACS | ID: lil-749088

RESUMEN

Introducción: es cada vez más frecuente la necesidad de retirar “stents” en la cirugía de revascularización. Material y métodos: serie de casos en los que se realiza endarterectomía y retiro de “stents” de vasos coronarios entre el 1 de enero y el 30 de abril del 2011. Se analizó morbilidad, antecedentes y evolución. Resultados: tres pacientes requirieron remoción de “stents”, dos de la descendente anterior y uno de la coronaria derecha, un paciente con infarto del miocardio falleció por choque cardiogénico. Conclusión: La remoción de “stents” en cirugía de revascularización debe considerar se como opción terapéutica en casos bien determinados.


Introdução: Cada vez é mais frequente a necessidade de retirar “stents” na cirurgia de revascularização. Material e métodos: série de casos onde são realizadas endarterectomia e retirada de“stents” de artérias coronárias entre 1 de janeiro e 30 de abril de 2011. Analisou-se morbilidade, antecedentes e evolução. Resultados: três pacientes tiveram remoção de “stents”, dois da artéria descendente anterior e um da coronária direita, um paciente com infarto do miocárdio faleceu por choquecardiogênico. Conclusão: A remoção de “stents” em cirurgia de revascularização deve considerar-se como opção terapêutica em casos bem determinantes.


Introduction: Stent removal is associated to coronary artery by-pass surgery is a more fre-quent procedure. Material and Methods: We present the cases that required endarterectomy, stent removal and coronary artery by-pass surgery between January 1, 2011, and April 30, 2011. We analyzedmedical history, morbidity, and evolution.Results: Three patients required stents removal, two in coronary anterior descending artery and one on right coronary artery. One patient with acute myocardial infarction died, due tocardiogenic shock. Conclusion: It was concluded that stent removal in coronary artery by-pass surgery shouldbe considered as a surgical option in selected cases.


Asunto(s)
Humanos , Reestenosis Coronaria/cirugía , Revascularización Miocárdica , Stents , Endarterectomía/métodos , Remoción de Dispositivos/métodos
18.
Eur J Public Health ; 20(2): 169-75, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19767396

RESUMEN

BACKGROUND: Intimate partner violence (IPV) is a public health problem with significant consequences on women's health. This study estimates the prevalence of intimate partner violence by type among Madrid's female population and assesses the association with socio-economic variables. METHODS: We conducted a cross-sectional study in 2004, 2136 women aged 18-70 years, living in the Madrid region with a partner or who had been in contact with an ex-partner in the previous year, were interviewed by telephone. The questionnaire used to measure past-year intimate partner violence, consisted of a Spanish translation of the psychological and sexual violence module of the French National Survey on Violence against Women, and the physical violence module of the Conflict Tactics Scale-1. To assess the association with socio-economic factors, logistic regression models were fitted. RESULTS: About 10.1% [confidence interval (CI) 8.9-11.5] of the women had suffered some type of IPV in the previous year. 8.6% (CI 7.4-9.8) experienced psychological violence, 2.4% (CI 1.8-3.1) physical violence and 1.1% (CI 0.68-1.6) sexual violence; the prevalence of psychological-only violence (non-physical/non-sexual) was 6.9% (CI 5.8-8.0). Factors associated with psychological-only violence were divorced or separated status and Group III (clerical workers; supervisors of manual workers) or V (unskilled manual workers) occupation. Unemployment and divorced or separated status were associated with physical violence. CONCLUSIONS: Spanish women in our study, experienced past year partner violence at a similar level as in other industrialized countries. Unemployment and low occupational status are associated with physical and psychological-only violence, respectively.


Asunto(s)
Violencia Doméstica/estadística & datos numéricos , Parejas Sexuales , Mujeres/psicología , Adulto , Femenino , Humanos , Prevalencia , Factores Socioeconómicos , España/epidemiología , Adulto Joven
19.
Nucleic Acids Res ; 37(Database issue): D239-43, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18776217

RESUMEN

The degradome is defined as the complete set of proteases present in an organism. The recent availability of whole genomic sequences from multiple organisms has led us to predict the contents of the degradomes of several mammalian species. To ensure the fidelity of these predictions, our methods have included manual curation of individual sequences and, when necessary, direct cloning and sequencing experiments. The results of these studies in human, chimpanzee, mouse and rat have been incorporated into the Degradome database, which can be accessed through a web interface at http://degradome.uniovi.es. The annotations about each individual protease can be retrieved by browsing catalytic classes and families or by searching specific terms. This web site also provides detailed information about genetic diseases of proteolysis, a growing field of great importance for multiple users. Finally, the user can find additional information about protease structures, protease inhibitors, ancillary domains of proteases and differences between mammalian degradomes.


Asunto(s)
Bases de Datos de Proteínas , Péptido Hidrolasas/química , Péptido Hidrolasas/genética , Animales , Enfermedades Genéticas Congénitas/genética , Humanos , Ratones , Mutación , Pan troglodytes , Proteoma/química , Proteoma/genética , Ratas
20.
J Clin Invest ; 115(10): 2832-42, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16167086

RESUMEN

MMPs, which degrade components of the ECM, have roles in embryonic development, tissue repair, cancer, arthritis, and cardiovascular disease. We show that a missense mutation of MMP13 causes the Missouri type of human spondyloepimetaphyseal dysplasia (SEMD(MO)), an autosomal dominant disorder characterized by defective growth and modeling of vertebrae and long bones. Genome-wide linkage analysis mapped SEMD(MO) to a 17-cM region on chromosome 11q14.3-23.2 that contains a cluster of 9 MMP genes. Among these, MMP13 represented the best candidate for SEMD(MO), since it preferentially degrades collagen type II, abnormalities of which cause skeletal dysplasias that include Strudwick type SEMD. DNA sequence analysis revealed a missense mutation, F56S, that substituted an evolutionarily conserved phenylalanine residue for a serine in the proregion domain of MMP13. We predicted, by modeling MMP13 structure, that this F56S mutation would result in a hydrophobic cavity with misfolding, autoactivation, and degradation of mutant protein intracellularly. Expression of wild-type and mutant MMP13s in human embryonic kidney cells confirmed abnormal intracellular autoactivation and autodegradation of F56S MMP13 such that only enzymatically inactive, small fragments were secreted. Thus, the F56S mutation results in deficiency of MMP13, which leads to the human skeletal developmental anomaly of SEMD(MO).


Asunto(s)
Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 11/genética , Colagenasas/genética , Escala de Lod , Mutación Missense/genética , Osteocondrodisplasias/genética , Sustitución de Aminoácidos/genética , Sitios de Unión , Remodelación Ósea/genética , Línea Celular , Trastornos de los Cromosomas/diagnóstico por imagen , Trastornos de los Cromosomas/enzimología , Colágeno Tipo II/metabolismo , Colagenasas/metabolismo , Femenino , Expresión Génica , Humanos , Huesos de la Pierna/diagnóstico por imagen , Huesos de la Pierna/crecimiento & desarrollo , Masculino , Metaloproteinasa 13 de la Matriz , Metaloproteinasa 9 de la Matriz/genética , Metaloproteinasa 9 de la Matriz/metabolismo , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/enzimología , Linaje , Pliegue de Proteína , Sitios de Carácter Cuantitativo/genética , Radiografía , Columna Vertebral/diagnóstico por imagen , Columna Vertebral/crecimiento & desarrollo
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