GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.

Functional Bio-Based Polymeric Hydrogels for Wastewater Treatment: From Remediation to Sensing Applications.

In recent years, many researchers have focused on designing hydrogels with specific functional groups that exhibit high affinity for various contaminants, such as heavy metals, organic pollutants, pathogens, or nutrients, or environmental parameters. Novel approaches, including cross-linking strategies and the use of nanomaterials, have been employed to enhance the structural integrity and performance of the desired hydrogels. The evolution of these hydrogels is further highlighted, with an emphasis on fine-tuning features, including water absorption capacity, environmental pollutant/factor sensing and selectivity, and recyclability.

Smart pillar[5]arene-based PDMAEMA/PES beads for selective dye pollutants removal: design, synthesis, chemical-physical characterization, and adsorption kinetic studies.

This article reports on the synthesis of an innovative smart polymer, P5-QPDMAEMA, opportunely developed with the aim of combining the responsiveness of PDMAEMA polymer and the host-guest properties of covalently linked pillar[5]arenes. Thanks to a traditional Non-Induced Phase Separation (NIPS) process performed at various coagulation pH, the blending of P5-QPDMAEMA with polyethersulfone gave rise to the formation of functional beads for the removal of organic dyes in water. Adsorption tests are carried out on all the produced blend-based beads by employing two representative dyes, the cationic methylene blue (MB), and the anionic methyl orange (MO).

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.

Mitochondrial disorders are characterized by a huge clinical, biochemical, and genetic heterogeneity, which poses significant diagnostic challenges. Several studies report that more than 50% of patients with suspected mitochondrial disease could have a non-mitochondrial disorder. Thus, only the identification of the causative pathogenic variant can confirm the diagnosis.