The photocatalytic pretreatment of lignocellulosic biomass to oxidize lignin and increase biomass stability has gained attention during the last few years. Conventional pretreatment methods are limited by the fact that they are expensive, non-renewable and contaminate the anaerobic digestate later on. The present study was focused to develop a metal-derived photocatalyst that can work with visible electromagnetic spectra light and oxidize commercial lignin liquor. During this project the advanced photocatalytic oxidation of lignin was achieved by using a quartz cube tungsten T3 Halogen 100 W lamp with a laboratory manufactured TiO₂-ZnO nanoparticle (nanocomposite) in a self-designed apparatus. The products of lignin oxidation were confirmed to be vanillic acid (9.71 ± 0.23 mg/L), ferrulic acid (7.34 ± 0.16 mg/L), benzoic acid (6.12 ± 0.17 mg/L) and p-coumaric acid (3.80 ± 0.13 mg/L). These all products corresponded to 85% of the lignin oxidation products that were detectable, which is significantly more than any previously reported lignin pretreatment with even more intensity. Furthermore, all the pretreatment samples were supplemented in the form of feedstock diluent in uniformly operating continuously stirred tank reactors (CSTRs). The results of pretreatment revealed 85% lignin oxidation and later on these products did not hinder the CSTR performance at any stage. Moreover, the synergistic effects of pretreated lignin diluent were seen that resulted in 39% significant increase in the methane yield of the CSTR with constant operation. Finally, the visible light and nanoparticles alone could not pretreat lignin and when used as diluent, halted and reduced the methane yield by 37% during 4th HRT.

Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations. We identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the “friendly” demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population. We suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.

The current study was performed to optimize three different industrial textile effluent biodegradation potentials of a brown rot fungus, Piptoporus betulinus IEBL-3, to reduce environmental pollution. The Response Surface Methodology under the Box Bhenken Design was used for the optimization steps. Three ligninolytic enzymes named lignin peroxidase, manganese peroxidase and laccase were also studied during the biodegradation process. The biodegradation rate of the 3 industrial effluents varied between 67 and 76% at the initially optimized conditions. There was a 10%, 7% and 9% increase in the biodegradation of Mujahid textile (MT), Five Star textile (FST) and Sitara textile (ST) effluent, respectively, after the addition of various additional carbon and nitrogen sources in different ratios. The biological treatment decreases the Biological Oxygen Demand and Chemical Oxygen Demand values of the effluents well below the WHO-recommended values for the industrial effluents. The HPLC monitoring of the effluent’s biodegradation showed the appearance of new peaks, some of which may correspond to secondary amines. Study of ligninolytic enzymes during the biodegradation process confirmed their role in the biodegradation process, with lignin peroxidase having highest activity among the others. These findings suggest that P. betulinus is a potential fungus for the biodegradation of the dyes and effluents and can be a suitable candidate for this process.

Nitrogen, an indispensable macronutrient, significantly affects the appearance, quality, and yield of grapes (Vitis vinifera). Adequate nitrate uptake and intracellular transport, facilitated primarily by nitrate transport (NRT) proteins, are crucial for maintaining nutritional balance. However, there are no reports on the NRT gene family in grapes. In this study, we identified 53 Nitrate Transporter 1/Peptide Transporter Family (NPF), 3 nitrate transporter 2 family (NRT2), and 1 Nitrate Assimilation-Related 2 (NAR2) genes in the grapevine Pinot Noir PN40024 genome. A comprehensive analysis of these gene families, including their physicochemical properties, structural organization, chromosomal distribution, collinearity, cis-acting element distribution, and phylogenetic relationships, revealed the rich diversity and evolutionary conservation of the grapevine Nitrate Transporter (NRT) genes. Furthermore, the expression profiles of VvNRTs in different tissues demonstrated that the NRT genes possess spatio-temporal expression specificity. The expression patterns of the NRT genes were examined by transcriptome sequencing in grapevines across various tissues under nitrogen-deficiency conditions. The expression patterns in grapevine leaves under nitrogen-deficiency conditions showed upregulation of the VvNPF2.3 gene in conditions of nitrogen deficiency. This upregulation was strongly associated with a 62.2% reduction in indole-3-acetic acid (IAA) levels and a 21.3% increase in hydrogen peroxide (H₂O₂) levels, suggesting a complex regulatory response to nitrogen-induced stress. These findings emphasize the potential involvement of NRT genes in the adaptive reaction to nitrogen deficiency and set the stage for future investigations into the molecular mechanisms of nitrogen transportation in grapevines.

Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive (AR). Here, we combined microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES) to identify disease genes/mutations in 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID. We identified definite or candidate mutations (or CNVs) in 51% of families in 72 different genes, including 26 not previously reported for ARID. The new ARID genes include nine with loss-of-function mutations (ABI2, MAPK8, MPDZ, PIDD1, SLAIN1, TBC1D23, TRAPPC6B, UBA7, and USP44), and missense mutations include the first reports of variants in BDNF or TET1 associated with ID. The genes identified also showed overlap with de novo gene sets for other neuropsychiatric disorders. Transcriptional studies showed prominent expression in the prenatal brain. The high yield of AR mutations for ID indicated that this approach has excellent clinical potential and should inform clinical diagnostics, including clinical whole exome and genome sequencing, for populations in which consanguinity is common. As with other AR disorders, the relevance will also apply to outbred populations.