Out-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype.

Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy and optic atrophy.

Objective: We identified patients with a novel, milder TBCE-associated phenotype and aimed to characterize it at the clinical and molecular levels.

Materials And Methods: We conducted splicing analysis using deep NGS sequencing of RT-PCR products and detected TBCE through Western blotting.

Use of macromolecules lignosulfonate and graphene oxide to prepare non-autoclaved aerated concrete.

The development of new structural materials with thermal insulation properties is urgently need in the construction of smart buildings. Besides, there is a need to develop environmentally friendly and sustainable concrete mix designs. Lignosulfonate (LS) macromolecule and graphene oxide (GO) were used to prepare non-autoclaved aerated concrete (NAC).

Transient Interphase Microtubules Appear in Differentiating Sponge Cells.

Microtubules are an indispensable component of all eukaryotic cells due to their role in mitotic spindle formation, yet their organization and number can vary greatly in the interphase. The last common ancestor of all eukaryotes already had microtubules and microtubule motor proteins moving along them. Sponges are traditionally regarded as the oldest animal phylum.

A Solitary Stalled 80S Ribosome Prevents mRNA Recruitment to Stress Granules.

In response to stress stimuli, eukaryotic cells typically suppress protein synthesis. This leads to the release of mRNAs from polysomes, their condensation with RNA-binding proteins, and the formation of non-membrane-bound cytoplasmic compartments called stress granules (SGs). SGs contain 40S but generally lack 60S ribosomal subunits.

Preparation of a Polyaniline-Modified Hybrid Graphene Aerogel-Like Nanocomposite for Efficient Adsorption of Heavy Metal Ions from Aquatic Media.

This paper considers the synthesis of a novel nanocomposite based on reduced graphene oxide and oxidized carbon nanotubes modified with polyaniline and phenol-formaldehyde resin and developed through the carbonization of a pristine aerogel. It was tested as an efficient adsorbent to purify aquatic media from toxic Pb(II). Diagnostic assessment of the samples was carried out through X-ray diffractometry, Raman spectroscopy, thermogravimetry, scanning and transmission electron microscopy, and infrared spectroscopy.