Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

De novo or autosomal dominant BAG3 gene variants cause a wide range of skeletal and cardiac muscle diseases encompassing Charcot-Marie-Tooth disease, myofibrillar myopathy, cardiomyopathy or a combination of them. Given the severity and rarity of BAG3-neuromuscular diseases (NMD), series of patients are lacking. Our aim was to characterize the clinical and genetic spectrum as well as the natural history of BAG3-NMD in Europe.

Key determinants of impaired gait performance in adults with neuromuscular diseases: a multiparametric and multimodal analysis.

Neuromuscular diseases (NMD) are associated with gait impairments affecting the quality of life. Contributing factors such as the severity of muscle weakness or kinematics alterations have mostly been studied separately. Therefore, the key determinants of impaired gait in patients with NMD remain unclear.

A model to predict the 6-Minute Walk Distance in Pompe disease.

Background: Pompe disease is a rare neuromuscular disorder caused by acid alpha-glucosidase deficiency, leading to glycogen accumulation and progressive striated muscle weakness. The 6-minute walk test (6MWT) is commonly used to assess functional capacity in neuromuscular diseases but can be challenging for severely affected ambulant patients.

Objective: This study aimed to develop and validate predictive models for 6MWT performance using simpler, less demanding tests.

Φ-score: A cell-to-cell phenotypic scoring method for sensitive and selective hit discovery in cell-based assays.

Phenotypic screening monitors phenotypic changes induced by perturbations, including those generated by drugs or RNA interference. Currently-used methods for scoring screen hits have proven to be problematic, particularly when applied to physiologically relevant conditions such as low cell numbers or inefficient transfection. Here, we describe the Φ-score, which is a novel scoring method for the identification of phenotypic modifiers or hits in cell-based screens.

Overview of a surface-ripened cheese community functioning by meta-omics analyses.

Cheese ripening is a complex biochemical process driven by microbial communities composed of both eukaryotes and prokaryotes. Surface-ripened cheeses are widely consumed all over the world and are appreciated for their characteristic flavor. Microbial community composition has been studied for a long time on surface-ripened cheeses, but only limited knowledge has been acquired about its in situ metabolic activities.

Investigation of Geotrichum candidum gene expression during the ripening of Reblochon-type cheese by reverse transcription-quantitative PCR.

Cheese ripening involves the activity of various bacteria, yeasts or molds, which contribute to the development of the typical color, flavor and texture of the final product. In situ measurements of gene expression are increasingly being used to improve our understanding of the microbial flora activity in cheeses. The objective of the present study was to investigate the physiology and metabolic activity of Geotrichum candidum during the ripening of Reblochon-type cheeses by quantifying mRNA transcripts at various ripening times.