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Background: Recessive mutations in ETFDH gene have been associated with Multiple Acyl-CoA dehydrogenase deficiency (MADD). The late-onset MADD is often muscle involved, presenting with lipid storage myopathy (LSM). The symptoms of LSM were heterogeneous and definite diagnosis of this disease depends on the pathology and gene test. Methods: Neurological examination, muscle biopsy, and MRI examinations were performed in a patient with a novel missense ETFDH mutation. Results: We describe a patient with lipid storage myopathy complicated with skin damage. In addition, the next generation revealed a novel missense mutation (c.970G > T, p.Val324Leu) in exon 8, which was predicted to be a disease-causing mutation by Mutation-taster, and destroy the function of the protein by Sift. Conclusion: These findings expand the known mutational spectrum of ETFDH and phenotype of MADD. [ABSTRACT FROM AUTHOR]

Herein, an octanuclear complex [Mn8(μ4-O)4(phpy)8(MeOH)4]·MeOH·H2O based on 5-(2-hydroxyphenyl)-3-pyrazole (HphpyH) has been successfully synthesized and characterized. The compound can self-assemble to form nanoparticles (NPs) by nanoprecipitation with PEG-5000. [Mn8(μ4-O)4(phpy)8(MeOH)4]·MeOH·H2O NPs have a low IC50 (half maximal inhibitory concentration) of only 44 μg/mL (2.3 μM) on HeLa cells. The results show that [Mn8(μ4-O)4(phpy)8(MeOH)4]·MeOH·H2O NPs are able to inhibit cell proliferation and migration in vitro. [ABSTRACT FROM AUTHOR]

The interaction between benthiavalicarb-isopropyl and human serum albumin was studied by ultraviolet-visible absorption, fluorescence, synchronous fluorescence, three-dimensional fluorescence, circular dichroism spectroscopies and molecular docking. The results revealed that the effect of benthiavalicarb-isopropyl on human serum albumin was static quenching. The number of binding sites, binding constants, and binding distance were obtained. The interaction of benthiavalicarb-isopropyl to human serum albumin was mainly through hydrogen bond and van der Waals force. The conformation of human serum albumin changed slightly. The interaction details were studied by molecular docking method. This study elucidated the mechanism of the interaction between benthiavalicarb-isopropyl and human serum albumin. [ABSTRACT FROM AUTHOR]

Background: Kufs disease type B (also termed CLN13), an adult-onset form of neuronal ceroid lipofuscinosis (NCL), is genetically heterogeneous and challenging to diagnose. Recently, mutations in cathepsin-F have been identified as the causative gene for autosomal recessive Kufs disease type B. Results: Here, we report a sporadic case of Kufs disease type B with novel compound heterozygous mutations, a novel missense mutation c.977G>T (p.C326F) and a novel nonsense mutation c.416C>A (p.S139X), in the cathepsin-F gene. The magnetic resonance imaging findings were consistent with those demonstrated in adult neuronal ceroid lipofuscinosis: diffuse cortical atrophy, mild hyperintensity and reduction of the deep white matter on T2-weighted images. A skin biopsy was negative for abnormalities. Conclusions: Altogether, our findings broaden the mutation database in relation to the neuronal ceroid lipofuscinosis, and the clinical diagnosis of Kufs disease type B was confirmed. [ABSTRACT FROM AUTHOR]

Aim of the study:To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Materials and methods:The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed. Results:The patient was identified to carry compound heterozygous mutations in ETFDH gene. Two missense mutations c.814 G > A and c.389 A > T were found. Conclusion:This is the first report of c.814G > A mutation in ETFDH in adult patient with MADD. [ABSTRACT FROM AUTHOR]

In 2006, the Au–C22H14with a covalent bond between an individual pentacene (C22H14) and a gold (Au) atom was synthesised and characterised, and its nonlinear optical (NLO) properties were explored. To further investigate the NLO properties from molecules to materials, three kinds of different dimers (Au–C22H14)2(2,3and4) were designed to probe the monomer accumulation modes on the structures and NLO properties. The results indicate that Au atoms doping breaks the conjugate structures of the two pentacenes to different extent. On the other hand, their NLO properties investigated by three density functional theory methods Becke-Half-and-Half-LYP (BHandHLYP), Coulomb-attenuating method Becke-3-Lee–Yang–Parr (CAM-B3LYP) and Minnesota 2005 double the amount of nonlocal exchange (M05-2X) show the same order, and2has the largest first hyperpolarisability (βtot) than the other molecules. At the same time, natural bond orbital analysis shows the Au atoms play a crucial role in pushing electron density. Meanwhile, the frontier molecular orbital analysis shows that charge transfer has occurred between the two pentacene molecules and Au atoms. As a result, the order of transition energy is opposite to the order of βtotvalues. Because the pentacene is taken as a simplified fragment of the graphene, our present work may be beneficial to the development of high-performance NLO materials. [ABSTRACT FROM PUBLISHER]

The binding of aucubin to bovine serum albumin in the absence or presence of copper II or iron III has been studied by fluorescence, UV-Vis absorbance, synchronous fluorescence, and circular dichroism spectroscopies at pH 7.40. The results of fluorescence showed that the static quenching mechanism played a major role without or with copper II or iron III, and the quenching constant, binding constant, and binding site number decreased with copper II or iron III at three different temperatures (310 K, 300 K, and 290 K). This indicated that the drug would take effect more promptly in the presence of metal ions than in the absence of them. Thermodynamic parameters revealed that hydrophobic forces played vital roles and the binding process was spontaneous without or with copper II or iron III. The results of synchronous fluorescence showed that the polarity of the microenvironment around tryptophan and tyrosine residues changed insignificantly without or with copper II or iron III. The results of circular dichroism showed that there were slight reductions in the α-helix content of bovine serum albumin. In conclusion, copper II or iron III could reduce the binding ability between aucubin and bovine serum albumin, resulting in enhanced maximum effects of aucubin. The relative knowledge would contribute to the pharmaceutical development and clinical application of aucubin. Supplemental materials are available for this article. Go to the publisher's online edition ofSpectroscopy Lettersto view the supplemental file. [ABSTRACT FROM AUTHOR]