Correction: Highly active spherical amorphous MoS2: facile synthesis and application in photocatalytic degradation of rose bengal dye and hydrogenation of nitroarenes.

[This corrects the article DOI: 10.1039/C5RA19442C.].

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

PURPOSE: In this study we aimed to identify the molecular genetic cause of a progressive multisystem disease with prominent lipodystrophy. METHODS: In total, 5 affected individuals were investigated using exome sequencing. Dermal fibroblasts were characterized using RNA sequencing, proteomics, immunoblotting, immunostaining, and electron microscopy. Subcellular localization and rescue studies were performed. RESULTS: We identified a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life (A1, A2, and A3), 2 are adults with normal intellectual development (A4 and A5). All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. The nucleotide substitution caused alternative splicing of BUD13 leading to a stable truncated protein whose expression positively correlated with disease expression and life expectancy. In dermal fibroblasts, we found elevated intron retention, a global reduction of spliceosomal proteins, and nuclei with multiple invaginations, which were more pronounced in A1, A2, and A3. Overexpression of both BUD13 isoforms normalized the nuclear morphology. CONCLUSION: Our results define a hitherto unknown syndrome and show that the alternative splice product converts a loss-of-function into a hypomorphic allele, thereby probably determining the severity of the disease and the survival of affected individuals.

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

Individuals affected with autosomal recessive cutis laxa type 2B and 3 usually show translucent skin with visible veins and abnormal elastic fibers, intrauterine and/or postnatal growth restriction and a typical triangular facial gestalt. Here we describe three unrelated individuals in whom such a cutis laxa syndrome was suspected, especially after electron microscopy revealed immature and less dense dermal elastic fibers in one of them. However, one of these children also displayed optic atrophy and two hypogammaglobulinemia. All had elevated liver enzymes and acute liver failure during febrile episodes leading to early demise in two of them. The only surviving patient had been treated with immunoglobulins. Through exome sequencing we identified mutations in NBAS, coding for a protein involved in Golgi-to-ER transport. NBAS deficiency causes several rare conditions ranging from isolated recurrent acute liver failure to a multisystem disorder mainly characterized by short stature, optic nerve atrophy and Pelger-Huët anomaly (SOPH). Since we subsequently verified Pelger-Huët anomaly in two of the patients the diagnosis SOPH syndrome was unequivocally proven. Our data show that SOPH syndrome can be regarded as a differential diagnosis for the progeroid forms of cutis laxa in early infancy and that possibly treatment of the hypogammaglobulinemia can be of high relevance for the prognosis.

Advanced catalytic performance of amorphous MoS2 for degradation/reduction of organic pollutants in both individual and simultaneous fashion.

A cluster [(S2)2Mo(S2)2Mo(S2)2], has been used to synthesise molybdenum sulfide microparticles (MPs) by solvothermal treatments under inert environment. During synthesis, surfactants i.e. oleylamine and dodecanthiol take part in chief role in shaping the morphology of MPs into ultrathin nano-fibre, and nano-rod. MPs have been characterized by X-ray diffraction analysis, energy dispersive X-ray spectroscopy, transmission electron microscopy and UV-vis spectroscopic techniques. The optical spectral data reveals a simultaneous presence of direct and indirect band gap in both MoS2. The material emerges as an effective catalyst towards the mineralization of different cationic dyes (rhodamine B and methylene blue) and anionic dye (rosebngal). These MPs have also been effectively used for the simultaneous degradations of different dyes in the same reaction mixture which make further highlighted the catalytic performances of MoS2. The above kinetics of the decomposition processes were examined and found to follow the pseudo-first-order reaction model. The plausible mechanism has been explained by comparing the position of conduction band levels of MoS2 (measured by Mott-schotky and touc's plot) and potential value of borohydride. We have also investigated the active species behind the degradation of dyes by using different scavengers. The new catalyst was also effective for the degradation of mixture of dyes to the same extent as it was in case of individual.

Single source precursor driven phase selective synthesis of Au-CuGaS2 heteronanostructures: an observation of plasmon enhanced photocurrent efficiency.

The design of new functional metal-semiconductor heteronanostructures with improved photovoltaic efficiencies has drawn significant attention because of their unprecedented properties and potential applications. Herein, we report a phase selective synthesis of ternary CuGaS2 (wurtzite and tetragonal) by simple solution based thermal decomposition of a new binuclear single molecular precursor [Ga(acda)3Cu(PPh3)2]NO3 (acda = 2-aminocyclopentene-1-dithiocarboxylic acid, PPh3 = triphenylphosphine) where the phase selectivity has been achieved easily by changing the combination of surface active agents. Furthermore, we have extended our approach to develop a well-controlled synthetic strategy for the preparation of a Au-CuGaS2 heteronanocomposite with both the phases. A detailed microscopic study reveals that during heterostructure synthesis, an epitaxial junction has been formed at the interface of ternary CuGaS2 and metallic Au. To find out the influence of this epitaxial connectivity on the properties, we have studied the photocurrent and photoresponse behavior of the material and compared them with that of bare CuGaS2. For both the wurtzite and tetragonal phases, the Au-CuGaS2 twin structure exhibits a plasmon enhanced superior charge transport ability and an abruptly high photocurrent density compared to that of pure CuGaS2. Due to efficient charge separation by strong plasmon-exciton coupling at the interface, Au-CuGaS2 can be used as a potential candidate for photoelectrochemical applications.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome. SLC25A24 encodes a mitochondrial inner membrane ATP-Mg/Pi carrier. In fibroblasts from affected individuals, the mutated SLC25A24 showed normal stability. In contrast to control cells, the probands' cells showed mitochondrial swelling, which was exacerbated upon treatment with hydrogen peroxide (H2O2). The same effect was observed after overexpression of the mutant cDNA. Under normal culture conditions, the mitochondrial membrane potential of the probands' fibroblasts was intact, whereas ATP content in the mitochondrial matrix was lower than that in control cells. However, upon H2O2 exposure, the membrane potential was significantly elevated in cells harboring the mutated SLC25A24. No reduction of mitochondrial DNA copy number was observed. These findings demonstrate that mitochondrial dysfunction with increased sensitivity to oxidative stress is due to the SLC25A24 mutations. Our results suggest that the SLC25A24 mutations induce a gain of pathological function and link mitochondrial ATP-Mg/Pi transport to the development of skeletal and connective tissue.

Enhanced photocatalytic performance of morphologically tuned Bi2S3 NPs in the degradation of organic pollutants under visible light irradiation.

Here in, morphologically tuned Bi2S3 NPs were successfully synthesized from a single-source precursor complex [Bi(ACDA)3] [HACDA=2-aminocyclopentene-1-dithiocarboxylic acid] by decomposing in various solvents using a simple solvothermal method. The as-obtained products were characterized by XRD, TEM, UV-vis spectroscopy and BET surface area measurements. Structural analyses revealed that the as-prepared Bi2S3 NPs can be tuned to different morphologies by varying various solvents and surfactants. The interplay of factors that influenced the size and morphology of the nanomaterials has been studied. Moreover, mastery over the morphology of nanoparticles enables control of their properties and enhancement of their usefulness for a given application. These materials emerged as a highly active visible light-driven photocatalyst towards degradation of methylene blue dye and the efficiencies are dependent on size and surface area of the NPs. In addition, photocatalytic degradation of highly toxic dichlorodiphenyltrichloroethane was studied using synthesized Bi2S3 NPs as catalyst and the rate of degradation has been found to be much better compared to that exhibited by commercial WO3. We believe that this new synthesis approach can be extended to the synthesis of other metal sulfide nanostructures and open new opportunities for device applications.

Colorimetric estimation of human glucose level using γ-Fe2O3 nanoparticles: an easily recoverable effective mimic peroxidase.

This article reports simple, green and efficient synthesis of γ-Fe2O3 nanoparticles (NPs) (maghemite) through single-source precursor approach for colorimetric estimation of human glucose level. The γ-Fe2O3 NPs, having cubic morphology with an average particle size of 30 nm, exhibited effective peroxidase-like activity through the catalytic oxidation of peroxidase substrate 3,3',5,5'-tetramethylbenzidine (TMB) in the presence of H2O2 producing a blue-colored solution. On the basis of this colored-reaction, we have developed a simple, cheap, highly sensitive and selective colorimetric method for estimation of glucose using γ-Fe2O3/TMB/glucose-glucose oxidase (GOx) system in the linear range from 1 to 80 µM with detection limit of 0.21 µM. The proposed glucose sensor displays faster response, good stability, reproducibility and anti-interference ability. Based on this simple reaction process, human blood and urine glucose level can be monitored conveniently.