In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.

Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive disorder characterized by a functional disruption in several critical mitochondrial enzyme complexes, including pyruvate dehydrogenase and α-ketoglutarate dehydrogenase. Despite DLD's pivotal role in cellular energy metabolism, detailed molecular and metabolic consequences of DLD deficiency (DLDD) remain poorly understood. This study represents the first in-depth multi-omics analysis, specifically metabolomic and transcriptomic, of fibroblasts derived from a DLD-deficient patient compound heterozygous for a common Ashkenazi Jewish variant (c.

PFAS-Free Energy Storage: Investigating Alternatives for Lithium-Ion Batteries.

The class-wide restriction proposal on perfluoroalkyl and polyfluoroalkyl substances (PFAS) in the European Union is expected to affect a wide range of commercial sectors, including the lithium-ion battery (LIB) industry, where both polymeric and low molecular weight PFAS are used. The PFAS restriction dossiers currently state that there is weak evidence for viable alternatives to the use of PFAS in LIBs. In this Perspective, we summarize both the peer-reviewed literature and expert opinions from academia and industry to verify the legitimacy of the claims surrounding the lack of alternatives.

Multi-objective latent space optimization of generative molecular design models.

Molecular design based on generative models, such as variational autoencoders (VAEs), has become increasingly popular in recent years due to its efficiency for exploring high-dimensional molecular space to identify molecules with desired properties. While the efficacy of the initial model strongly depends on the training data, the sampling efficiency of the model for suggesting novel molecules with enhanced properties can be further enhanced via latent space optimization (LSO). In this paper, we propose a multi-objective LSO method that can significantly enhance the performance of generative molecular design (GMD).

Molecular Analysis of Coxsackievirus B2 Associated With Severe Symptoms of the Central Nervous System.

Coxsackievirus B2 (CVB2) is a member of the enterovirus group known to induce a spectrum of illnesses, from mild to severe. In the summer of 2022, an unusual outbreak of enteroviral central nervous system (CNS) infections occurred that was attributed to CVB2. Cerebrospinal fluid (CSF) samples collected from patients in 2015-2022 were tested for enterovirus via RT-PCR, followed by Sanger sequencing for positive cases.

High-pressure synthesis and crystal structure analysis of PbTeO, a UV transparent material.

Using the additional parameter pressure (Walker-type multianvil device), the lead(II) oxidotellurate(VI) PbTeO was synthesized at conditions of 8 GPa and 750 °C, and for the first time its crystal structure was determined using single-crystal X-ray diffraction data. PbTeO crystallizes with four formula units in the monoclinic space group 2/ with unit cell parameters = 5.4142(4), = 4.