De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. WASF1, also known as WAVE1, is part of the WAVE complex and acts as a mediator between Rac-GTPase and actin to induce actin polymerization. The three mutations connected by Matchmaker Exchange were c.1516C>T (p.Arg506Ter), which occurs in three unrelated individuals, c.1558C>T (p.Gln520Ter), and c.1482delinsGCCAGG (p.Ile494MetfsTer23). All three variants are predicted to partially or fully disrupt the C-terminal actin-binding WCA domain. Functional studies using fibroblast cells from two affected individuals with the c.1516C>T mutation showed a truncated WASF1 and a defect in actin remodeling. This study provides evidence that de novo heterozygous mutations in WASF1 cause a rare form of intellectual disability

A Review on the fabrication of electrospun polymer electrolyte membrane for direct methanol fuel cell

Proton exchange membrane (PEM) is an electrolyte which behaves as important indicator for fuel cell’s performance. Research and development (R&D) on fabrication of desirable PEM have burgeoned year by year, especially for direct methanol fuel cell (DMFC). However, most of the R&Ds only focus on the parent polymer electrolyte rather than polymer inorganic composites. This might be due to the difficulties faced in producing good dispersion of inorganic filler within the polymer matrix, which would consequently reduce the DMFC’s performance. Electrospinning is a promising technique to cater for this arising problem owing to its more widespread dispersion of inorganic filler within the polymer matrix, which can reduce the size of the filler up to nanoscale. There has been a huge development on fabricating electrolyte nanocomposite membrane, regardless of the effect of electrospun nanocomposite membrane on the fuel cell’s performance. In this present paper, issues regarding the R&D on electrospun sulfonated poly (ether ether ketone) (SPEEK)/inorganic nanocomposite fiber are addressed

Electrocatalytic performance impact of various bimetallic Pt-Pd alloy atomic ratio in robust ternary nanocomposite electrocatalyst toward boosting of methanol electrooxidation reaction

The low-loading of precious platinum (Pt) metal electrocatalysts development by alloying with less expensive of earth-abundant transition metals exhibiting high electrocatalytic activity and durability performance towards methanol oxidation reaction (MOR) for new generation sustainability of direct methanol fuel cell (DMFC) application has aroused increasing consideration. In this typical study, the as-prepared ternary nanocomposite electrocatalysts with controllable composition of the bimetallic Pt-Pd alloy nanoparticles (NPs) in acidic media were synthesized through a facile one-step hydrothermal-assisted formic acid reduction reaction. The main study on the critical impact of the bimetallic Ptx-Pdy alloy atomic ratio (x-y = 1:1, 2:3, 3:7, 1:4, 1:9) in the as-prepared ternary RGO/bimetallic Ptx-Pdy alloy/0.90CeO2 nanocomposite electrocatalyst upon its suitability as anode electrocatalyst towards the electrocatalytic performance of MOR was thoroughly evaluated at constant operating conditions. The results clearly demonstrated that the compositions of the bimetallic Pt-Pd alloy NPs can be easily adjusted by varying the Ptx-Pdy alloy atomic ratio that can contribute to the significant impact on the electrocatalytic activity of MOR in DMFC. Upon increase in the composition of Pd from the bimetallic Pt-Pd alloy atomic ratio of 1:1 to 2:3 led to increased electrocatalytic activity, long-term stability, durability cycles and charge transfer resistance with respect to the MOR. However, it was continuously decrease with further increase of the Pd proportion in the Pt-Pd alloy NPs atomic ratio of 3:7 to 1:9. The maximum peak current density of the MOR (39.83 mA cm-2) was obtained in the present research work for the as-synthesized ternary nanocomposite electrocatalyst with the bimetallic Pt-Pd alloy atomic ratio of 2:3. The as-synthesized ternary nanocomposite electrocatalyst with low noble Pt content through the alloying strategy could promotes practically employed as anode electrocatalyst under acidic media in DMFC application