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1.
Materials (Basel) ; 14(1)2020 Dec 25.
Artículo en Inglés | MEDLINE | ID: mdl-33375641

RESUMEN

A study on the strength of ceramic fiber bundles based on experimental and computational procedures is presented. Tests were performed on single filaments and bundles composed of two fibers with different nominal fiber counts. A method based on fiber rupture signals was developed to estimate the amount of filament rupture during the test. Through this method, the fiber bundle true strength was determined and its variation with the initial fiber count observed. By using different load-sharing models and the single filament data as input parameter, simulations were also developed to verify this behavior. Through different approaches between experiments and simulations, it was noted that the fiber bundle true strength increased with the fiber count. Moreover, a variation of the fibers' final proportion in the bundles relative to the initial amount was verified in both approaches. Finally, discussions on the influence of different load-sharing models on the results are presented.

2.
Opt Express ; 28(6): 7759-7770, 2020 Mar 16.
Artículo en Inglés | MEDLINE | ID: mdl-32225414

RESUMEN

To substitute conventional pigments, which often are toxic or suffer from fading in ultraviolet light, non-iridescent structural colors should demonstrate high spectral selectivity, while being also mechanically stable. However, conventional photonic glass (PhG) shows low color saturation due to the gradual transition in the reflection spectrum and low mechanical stability due to weak interparticle attachment. Here, a PhG with sharp spectral transition in comparison with the conventional full sphere PhG is designed by a conformal coating via atomic layer deposition (ALD) onto an organic PhG template. The ALD deposition allows to control the film thickness precisely for the highly saturated color. This structure can be described by hollow particle motifs with the effective size larger than the interparticle distance. Such unusual PhG is motivated by the achievable features in the spatial Fourier transform of a disordered assembly of such motifs. The surface-templated inverse PhG shows much higher color saturation than the direct PhG from full spheres. Moreover, the dense and solid connected shell will be beneficial for mechanical stability. These results pave the way for highly saturated structural colors. The demonstrated sharp spectral selection feature can be also considered for many related applications such as sunscreens, photovoltaics and radiative cooling by adjusting the reflection transition to the required wavelength. This can be achieved by proportionally scaling the motif and lattice dimensions as well as the film thickness.

3.
Materials (Basel) ; 12(18)2019 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-31491844

RESUMEN

Zirconia nanoceramics are interesting materials for numerous high-temperature applications. Because their beneficial properties are mainly governed by the crystal and microstructure, it is essential to understand and control these features. The use of co-stabilizing agents in the sol-gel synthesis of zirconia submicro-particles should provide an effective tool for adjusting the particles' size and shape. Furthermore, alumina-doping is expected to enhance the particles' size and shape persistence at high temperatures, similar to what is observed in corresponding bulk ceramics. Dispersed alumina should inhibit grain growth by forming diffusion barriers, additionally impeding the martensitic phase transformation in zirconia grains. Here, alumina-doped zirconia particles with sphere-like shape and average diameters of ∼ 300 n m were synthesized using a modified sol-gel route employing icosanoic acid and hydroxypropyl cellulose as stabilizing agents. The particles were annealed at temperatures between 800 and 1200 ∘ C and characterized by electron microscopy, elemental analysis, and X-ray diffraction. Complementary elemental analyses confirmed the precise control over the alumina content (0-50 mol%) in the final product. Annealed alumina-doped particles showed more pronounced shape persistence after annealing at 1000 ∘ C than undoped particles. Quantitative phase analyses revealed an increased stabilization of the tetragonal/cubic zirconia phase and a reduced grain growth with increasing alumina content. Elemental mapping indicated pronounced alumina segregation near the grain boundaries during annealing.

4.
Sci Rep ; 9(1): 11379, 2019 Aug 06.
Artículo en Inglés | MEDLINE | ID: mdl-31388189

RESUMEN

Self-assembled periodic structures out of monodisperse spherical particles, so-called opals, are a versatile approach to obtain 3D photonic crystals. We show that a thin conformal coating of only several nanometers can completely alter the reflection properties of such an opal. Specifically, a coating with a refractive index larger than that of the spherical particles can eliminate the first photonic band gap of opals. To explain this non-intuitive effect, where a nm-scaled coating results in a drastic change of optical properties at wavelengths a hundred times bigger, we split the permittivity distribution of the opal into a lattice function convoluted with that of core-shell particles as a motif. In reciprocal space, the Bragg peaks that define the first Brillouin zone can be eliminated if the motif function, which is multiplied, assumes zero at the Bragg peak positions. Therefore, we designed a non-monotonic refractive index distribution from the center of the particle through the shell into the background and adjusted the coating thickness. The theory is supported by simulations and experiments that a nanometer thin TiO2 coating via atomic layer deposition (ALD) on synthetic opals made from polystyrene particles induces nearly full transparency at a wavelength range where the uncoated opal strongly reflects. This effect paves the way for sensing applications such as monitoring the thicknesses growth in ALD in-situ and in real time as well as measuring a refractive index change without spectral interrogation.

6.
Data Brief ; 21: 1924-1936, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30519618

RESUMEN

This data article describes the detailed parameters for synthesizing mullite inverse opal photonic crystals via Atomic Layer Deposition (ALD), as well as the detailed image analysis routine used to interpret the data obtained by the measurement of such photonic crystals, before and after the heat treatment, via Ptychographic X-ray Computed Tomography (PXCT). The data presented in this article are related to the research article by Furlan and co-authors entitled "Photonic materials for high-temperature applications: Synthesis and characterization by X-ray ptychographic tomography" (Furlan et al., 2018). The data include detailed information about the ALD super-cycle process to generate the ternary oxides inside a photonic crystal template, the raw data from supporting characterization techniques, as well as the full dataset obtained from PXCT. All the data herein described is publicly available in a Mendeley Data archive "Dataset of synthesis and characterization by PXCT of ALD-based mullite inverse opal photonic crystals" located at https://data.mendeley.com/datasets/zn49dsk7x6/1 for any academic, educational, or research purposes.

7.
ACS Appl Mater Interfaces ; 8(16): 10466-76, 2016 04 27.
Artículo en Inglés | MEDLINE | ID: mdl-27045887

RESUMEN

A strategy for stacking multiple ceramic 3D photonic crystals is developed. Periodically structured porous films are produced by vertical convective self-assembly of polystyrene (PS) microspheres. After infiltration of the opaline templates by atomic layer deposition (ALD) of titania and thermal decomposition of the polystyrene matrix, a ceramic 3D photonic crystal is formed. Further layers with different sizes of pores are deposited subsequently by repetition of the process. The influence of process parameters on morphology and photonic properties of double and triple stacks is systematically studied. Prolonged contact of amorphous titania films with warm water during self-assembly of the successive templates is found to result in exaggerated roughness of the surfaces re-exposed to ALD. Random scattering on rough internal surfaces disrupts ballistic transport of incident photons into deeper layers of the multistacks. Substantially smoother interfaces are obtained by calcination of the structure after each infiltration, which converts amorphous titania into the crystalline anatase before resuming the ALD infiltration. High quality triple stacks consisting of anatase inverse opals with different pore sizes are demonstrated for the first time. The elaborated fabrication method shows promise for various applications demanding broadband dielectric reflectors or titania photonic crystals with a long mean free path of photons.

8.
Eur J Obstet Gynecol Reprod Biol ; 200: 29-34, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26967343

RESUMEN

OBJECTIVE: To identify potential predictors for failed vacuum-assisted delivery. STUDY DESIGN: Retrospective case-control study conducted in two perinatal centers in the Netherlands. Cases were women who underwent a failed vacuum-assisted delivery between 1997 and 2011. A failed vacuum extraction was defined as a delivery that was started as vacuum extraction but was converted to a cesarean section because of failure to progress. As controls we studied two successful vacuum extractions that were performed before the failed one. We used multivariable logistic regression to assess the risk for failed vacuum extraction. RESULTS: Between 1997 and 2011, 6734 trials of vacuum extraction were performed of which 309 failed (4.6%). These 309 cases were compared to the data of 618 women who underwent a successful vacuum extraction. Predictors for failed vacuum-assisted vaginal delivery were increasing gestational age (OR 1.2 per week), maternal height (OR 0.97 per cm), previous vaginal birth as compared to nulliparae (OR 0.32), estimated fetal weight ≥3750g as compared to <3250g (OR 5.7), epidural analgesia (OR 3.0), augmentation (OR 1.4), failure to progress as indication for trial of vacuum delivery (OR 1.7), station of descent of the fetal head (OR 0.31 per station more descended), and occiput posterior position (OR 2.6). The area under the receiver-operating characteristic curve of a prediction model integrating these indicators was 0.83. CONCLUSION: Failed vacuum extraction can be predicted accurately using both ante- and intrapartum characteristics. There is a strong need for prospective studies on the subject.


Asunto(s)
Insuficiencia del Tratamiento , Extracción Obstétrica por Aspiración , Analgesia Epidural , Analgesia Obstétrica , Estudios de Casos y Controles , Cesárea , Parto Obstétrico/métodos , Femenino , Peso Fetal , Edad Gestacional , Humanos , Modelos Logísticos , Países Bajos , Paridad , Embarazo , Curva ROC , Estudios Retrospectivos
9.
J Colloid Interface Sci ; 448: 582-92, 2015 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-25796070

RESUMEN

HYPOTHESIS: Zirconia microparticles produced by sol-gel synthesis have great potential for photonic applications. To this end, identifying synthetic methods that yield reproducible control over size uniformity is important. Phase transformations during thermal cycling can disintegrate the particles. Therefore, understanding the parameters driving these transformations is essential for enabling high-temperature applications. Particle morphology is expected to influence particle processability and stability. Yttria-doping should improve the thermal stability of the particles, as it does in bulk zirconia. EXPERIMENTS: Zirconia and YSZ particles were synthesized by improved sol-gel approaches using fatty acid stabilizers. The particles were heated to 1500 °C, and structural and morphological changes were monitored by SEM, ex situ XRD and high-energy in situ XRD. FINDINGS: Zirconia particles (0.4-4.3 µm in diameter, 5-10% standard deviation) synthesized according to the modified sol-gel approaches yielded significantly improved monodispersities. As-synthesized amorphous particles transformed to the tetragonal phase at ∼450 °C with a volume decrease of up to ∼75% and then to monoclinic after heating from ∼650 to 850 °C. Submicron particles disintegrated at ∼850 °C and microparticles at ∼1200 °C due to grain growth. In situ XRD revealed that the transition from the amorphous to tetragonal phase was accompanied by relief in microstrain and the transition from tetragonal to monoclinic was correlated with the tetragonal grain size. Early crystallization and smaller initial grain sizes, which depend on the precursors used for particle synthesis, coincided with higher stability. Yttria-doping reduced grain growth, stabilized the tetragonal phase, and significantly improved the thermal stability of the particles.

10.
Mol Nutr Food Res ; 58(4): 799-807, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24243645

RESUMEN

SCOPE: Mice are usually housed at 20-24 °C. At thermoneutrality (28 °C) larger diet-induced differences in obesity are seen. We tested whether this leads to large differences in metabolic health parameters. METHODS AND RESULTS: We performed a 14-wk dietary intervention in C57BL/6J mice at 28 °C and assessed adiposity and metabolic health parameters for a semipurified low fat (10 energy%) diet and a moderate high fat (30 energy%) diet. A large and significant diet-induced differential increase in body weight, adipose tissue mass, adipocyte size, serum leptin level, and, to some extent, cholesterol level was observed. No adipose tissue inflammation was seen. No differential effect of the diets on serum glucose, free fatty acids, triacylglycerides, insulin, adiponectin, resistin, PAI-1, MMP-9, sVCAM-1, sICAM-1, sE-selectin, IL-6, ApoE, fibrinogen levels, or HOMA index was observed. Also in muscle no differential effect on mitochondrial density, mitochondrial respiratory control ratio, or mRNA expression of metabolic genes was found. Finally, in liver no differential effect on weight, triacylglycerides level, aconitase/citrate synthase activity ratio was seen. CONCLUSION: Low fat diet and moderate high fat diet induce prominent body weight differences at thermoneutrality, which is not paralleled by metabolic differences. Our data rather suggest that thermoneutrality alters metabolic homeostasis.


Asunto(s)
Tejido Adiposo/metabolismo , Peso Corporal/efectos de los fármacos , Dieta Alta en Grasa , Aconitato Hidratasa/metabolismo , Adiponectina/sangre , Tejido Adiposo/efectos de los fármacos , Animales , Regulación de la Temperatura Corporal/efectos de los fármacos , Dieta con Restricción de Grasas , Metabolismo Energético/efectos de los fármacos , Ácidos Grasos/metabolismo , Leptina/metabolismo , Masculino , Ratones Endogámicos C57BL , Músculo Esquelético/efectos de los fármacos , Músculo Esquelético/metabolismo
12.
Int J Artif Organs ; 33(4): 198-203, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20458689

RESUMEN

PURPOSE: Bioresorbable materials have been developed in the hope that the body will replace them with newly formed tissue. The first step of this remodeling process in bone is the bioresorption of the material by osteoclasts. The aim of this study was to analyze osteoclastic resorption of biomaterials in vitro using the commonly used two-dimensional methods of light-microscopy (LM) and scanning electron microscopy (SEM) in comparison with infinite focus microscopy (IFM), a recently developed imaging method allowing for three-dimensional surface analysis. METHODS: Human hematopoietic stem cells were cultivated in the presence of the cytokines M-CSF and RANK-L for 4 weeks directly on dentin and a calcium phosphate cement. Osteoclast development was surveyed with standard techniques. After removal of the cells, resorption was characterized and quantified by LM, SEM and IFM. RESULTS: Osteoclast cultures on the biomaterials presented the typical osteoclast-specific markers. On dentin samples LM, SEM as well as IFM allowed for discrimination of resorption. Quantification of the resorbed area showed a linear correlation between the results (LM vs. SEM: r=0.996, p=0.004; SEM vs. IFM: r=0.989, p=0.011; IFM vs. LM: r=0.995). It was not possible to demarcate resorption pits on GB14 using LM or SEM. With IFM, resorption on GB14 could be visualized and quantified two- and three-dimensionally. CONCLUSIONS: In this paper we introduce IFM as a technology for three-dimensional visualization and quantification of resorption of biomaterials. Better understanding of the bioresorption of biomaterials may help in the design of better materials and might therefore constitute an important step on the avenue to the development of artificial bone.


Asunto(s)
Materiales Biocompatibles/química , Imagenología Tridimensional/métodos , Osteoclastos/metabolismo , Absorción , Cementos para Huesos , Resorción Ósea/fisiopatología , Fosfatos de Calcio/química , Células Cultivadas , Dentina/química , Células Madre Hematopoyéticas , Humanos , Ensayo de Materiales/métodos , Propiedades de Superficie , Ingeniería de Tejidos/métodos
13.
Hum Mol Genet ; 18(18): 3365-74, 2009 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-19525295

RESUMEN

Contiguous gene syndromes affecting the mitochondrial oxidative phosphorylation system have been rarely reported. Here, we describe a patient with apparent mitochondrial encephalomyopathy accompanied by several unusual features, including dysmorphism and hepatopathy, caused by a homozygous triple gene deletion on chromosome 5. The deletion encompassed the NDUFAF2, ERCC8 and ELOVL7 genes, encoding complex I assembly factor 2 (also known as human B17.2L), a protein of the transcription-coupled nucleotide excision repair (TC-NER) machinery, and a putative elongase of very long-chain fatty acid synthesis, respectively. Detailed evaluation of cultured skin fibroblasts revealed disturbed complex I assembly, depolarization of the mitochondrial membrane, elevated cellular NAD(P)H level, increased superoxide production and defective TC-NER. ELOVL7 mRNA was not detectable in these cells and no alterations in fatty acid synthesis were found. By means of baculoviral complementation we were able to restore the aberrations, thereby establishing causative links between genotype and cell-physiological phenotype. This first chromosomal microdeletion illustrates that beside primary defects in mitochondrial genes also additional genes possibly contribute to the disease phenotype, providing an additional explanation for the broad clinical symptoms associated with these disorders.


Asunto(s)
Anomalías Múltiples/genética , Acetiltransferasas/genética , Enzimas Reparadoras del ADN/genética , Eliminación de Gen , Proteínas Mitocondriales/genética , Chaperonas Moleculares/genética , Factores de Transcripción/genética , Anomalías Múltiples/metabolismo , Resultado Fatal , Elongasas de Ácidos Grasos , Ácidos Grasos/metabolismo , Femenino , Humanos , Recién Nacido , Mitocondrias/metabolismo , Mutación , Oxidación-Reducción , Fosforilación , Unión Proteica
14.
Am J Hum Genet ; 82(6): 1306-15, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18513682

RESUMEN

Mitochondrial isolated complex I deficiency is the most frequently encountered OXPHOS defect. We report a patient with an isolated complex I deficiency expressed in skin fibroblasts as well as muscle tissue. Because the parents were consanguineous, we performed homozygosity mapping to identify homozygous regions containing candidate genes such as NDUFA2 on chromosome 5. Screening of this gene on genomic DNA revealed a mutation that interferes with correct splicing and results in the skipping of exon 2. Exon skipping was confirmed on the mRNA level. The mutation in this accessory subunit causes reduced activity and disturbed assembly of complex I. Furthermore, the mutation is associated with a mitochondrial depolarization. The expression and activity of complex I and the depolarization was (partially) rescued with a baculovirus system expressing the NDUFA2 gene.


Asunto(s)
Complejo I de Transporte de Electrón/genética , Enfermedad de Leigh/enzimología , Enfermedad de Leigh/genética , Mutación , Consanguinidad , Cartilla de ADN/genética , Complejo I de Transporte de Electrón/química , Complejo I de Transporte de Electrón/metabolismo , Exones , Fibroblastos/enzimología , Prueba de Complementación Genética , Homocigoto , Humanos , Lactante , Masculino , Mitocondrias/enzimología , Músculos/enzimología , ARN Mensajero/genética
15.
J Comb Chem ; 10(2): 274-9, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18205322

RESUMEN

A high-throughput experimental (HTE) setup using conventional powders as raw materials was developed to synthesize and characterize ceramic bulk samples avoiding the customary liquid- or vapor-phase synthesis routes. Its functionality was verified using the well-known binary material system ZrO2-Y2O3. Libraries of 0.5 mol % yttria resolution were prepared using varying boundary systems as well as a number of liquid mixing aids. Automated powder X-ray diffraction (XRD) was applied to check the monoclinic phase content retained after heat-treatment on various positions for each sample. This phase information was used for comparison with a reference library comprising conventionally prepared samples by means of a regression analysis and mean deviation of monoclinic phase percentage. Out of the eight HTE libraries, three showed a significant comparability to the reference library.


Asunto(s)
Cerámica/síntesis química , Polvos
16.
Open Biomed Eng J ; 2: 64-70, 2008 Dec 30.
Artículo en Inglés | MEDLINE | ID: mdl-19662119

RESUMEN

Tissue engineering approaches for healing cartilage defects are partly limited by the inability to fix cartilage to bone during implantation. To overcome this problem, cartilage can be - already in vitro - generated on a ceramic carrier which serves as bone substitute. In this study, the influence of a hydroxylapatite carrier and its surface structure on the quality of tissue engineered cartilage was investigated. Application of the carrier reduced significantly biomechanical and biochemical properties of the generated tissue. In addition, slight changes in the quality of the formed matrix, in the adhesive strength between cartilage and biomaterial and in attachment and proliferation of a chondrocyte monolayer could be observed for commercial grade carriers, with respect to modified topographies obtained by smooth grinding/polishing. These first results demonstrated an influence of the carrier and its surface structure, but further research is needed for explaining the described effects and for optimization of cartilage-carrier-constructs.

17.
Genes Dev ; 21(5): 615-24, 2007 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-17344420

RESUMEN

Ecsit is a cytosolic adaptor protein essential for inflammatory response and embryonic development via the Toll-like and BMP (bone morphogenetic protein) signal transduction pathways, respectively. Here, we demonstrate a mitochondrial function for Ecsit (an evolutionary conserved signaling intermediate in Toll pathways) in the assembly of mitochondrial complex I (NADH:ubiquinone oxidoreductase). An N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1 in 500- to 850-kDa complexes as demonstrated by affinity purification and vice versa RNA interference (RNAi) knockdowns. In addition, Ecsit knockdown results in severely impaired complex I assembly and disturbed mitochondrial function. These findings support a function for Ecsit in the assembly or stability of mitochondrial complex I, possibly linking assembly of oxidative phosphorylation complexes to inflammatory response and embryonic development.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/metabolismo , Complejo I de Transporte de Electrón/metabolismo , Mitocondrias/metabolismo , NADH Deshidrogenasa/metabolismo , Proteínas Adaptadoras Transductoras de Señales/análisis , Proteínas Adaptadoras Transductoras de Señales/genética , Secuencia de Aminoácidos , Línea Celular , Desarrollo Embrionario , Células HeLa , Humanos , Mitocondrias/química , Datos de Secuencia Molecular , NADH Deshidrogenasa/análisis , Fosforilación Oxidativa , Interferencia de ARN
18.
J Inherit Metab Dis ; 29(4): 499-515, 2006 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16838076

RESUMEN

Oxidative phosphorylation (OXPHOS) has a prominent role in energy metabolism of the cell. Being under bigenomic control, correct biogenesis and functioning of the OXPHOS system is dependent on the finely tuned interaction between the nuclear and the mitochondrial genome. This suggests that disturbances of the system can be caused by numerous genetic defects and can result in a variety of metabolic and biochemical alterations. Consequently, OXPHOS deficiencies manifest as a broad clinical spectrum. Complex I, the biggest and most complicated enzyme complex of the OXPHOS system, has been subjected to thorough investigation in recent years. Significant progress has been made in the field of structure, composition, assembly, and pathology. Important gains in the understanding of the Goliath of the OXPHOS system are: exposing the electron transfer mechanism and solving the crystal structure of the peripheral arm, characterization of almost all subunits and some of their functions, and creating models to elucidate the assembly process with concomitant identification of assembly chaperones. Unravelling the intricate mechanisms underlying the functioning of this membrane-bound enzyme complex in health and disease will pave the way for developing adequate diagnostic procedures and advanced therapeutic treatment strategies.


Asunto(s)
Complejo I de Transporte de Electrón/química , Animales , Bovinos , Núcleo Celular/metabolismo , Electrones , Evolución Molecular , Humanos , Enfermedades Mitocondriales/patología , Modelos Químicos , Modelos Moleculares , Neurospora crassa/metabolismo , Fosforilación Oxidativa , Fosforilación , Estructura Terciaria de Proteína
19.
FEBS J ; 272(20): 5317-26, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16218961

RESUMEN

Complex I (NADH:ubiquinone oxidoreductase) is the largest multiprotein enzyme of the oxidative phosphorylation system. Its assembly in human cells is poorly understood and no proteins assisting this process have yet been described. A good candidate is NDUFAF1, the human homologue of Neurospora crassa complex I chaperone CIA30. Here, we demonstrate that NDUFAF1 is a mitochondrial protein that is involved in the complex I assembly process. Modulating the intramitochondrial amount of NDUFAF1 by knocking down its expression using RNA interference leads to a reduced amount and activity of complex I. NDUFAF1 is associated to two complexes of 600 and 700 kDa in size of which the relative distribution is altered in two complex I deficient patients. Analysis of NDUFAF1 expression in a conditional complex I assembly system shows that the 700 kDa complex may represent a key step in the complex I assembly process. Based on these data, we propose that NDUFAF1 is an important protein for the assembly/stability of complex I.


Asunto(s)
Complejo I de Transporte de Electrón/biosíntesis , Proteínas de la Membrana/fisiología , Proteínas Mitocondriales/metabolismo , Fraccionamiento Celular , Línea Celular , Doxiciclina/farmacología , Complejo I de Transporte de Electrón/deficiencia , Complejo I de Transporte de Electrón/genética , Complejo I de Transporte de Electrón/metabolismo , Complejo IV de Transporte de Electrones/metabolismo , Células HeLa , Humanos , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , Microscopía Fluorescente , Mitocondrias/efectos de los fármacos , Mitocondrias/metabolismo , Enfermedades Mitocondriales/metabolismo , Proteínas Mitocondriales/genética , Proteínas Mitocondriales/fisiología , Mutación/genética , NAD(P)H Deshidrogenasa (Quinona)/genética , NADH Deshidrogenasa , Subunidades de Proteína/metabolismo , Transporte de Proteínas/fisiología , ARN Interferente Pequeño/genética , Transfección
20.
Expert Rev Mol Diagn ; 4(2): 143-56, 2004 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-14995902

RESUMEN

The oxidative phosphorylation (OXPHOS) system consists of five multiprotein complexes and two mobile electron carriers embedded in the lipid bilayer of the mitochondrial inner membrane. With the exception of complex II and the mobile carriers, the other parts of the OXPHOS system are under dual genetic control. Due to this bigenomic control, the inheritance of OXPHOS system defects is either maternal, in the case of mitochondrial DNA mutations, autosomal or X-linked, in the case of nuclear gene defects. In this review, our current genetic understanding of OXPHOS system enzyme deficiencies will be summarized, and future directions that the field might take to unravel so-far genetically unresolved OXPHOS system enzyme deficiencies will be described, with special emphasis on complex I biogenesis.


Asunto(s)
Proteínas del Complejo de Cadena de Transporte de Electrón/genética , Transporte de Electrón/fisiología , Enfermedades Genéticas Congénitas , Fosforilación Oxidativa , ADN Mitocondrial/genética , ADN Mitocondrial/metabolismo , Proteínas del Complejo de Cadena de Transporte de Electrón/metabolismo , Genes , Humanos
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