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SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients' primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines. Additionally, mutant nuclei exhibit defective spliceosomal maturation and breakdown of Cajal bodies. Transcriptome analyses reveal splicing and mRNA expression dysregulation, particularly in sarcolemmal components, causing disruption of cytoskeletal organization in mutant cells and patient muscle tissues. Our findings establish SNUPN deficiency as the genetic etiology of a previously unrecognized subtype of muscular dystrophy and provide robust evidence of the role of SPN1 for muscle homeostasis. SNURPORTIN-1, encoded by the SNUPN gene, plays a key role in the nuclear import of spliceosomal small nuclear ribonucleoproteins, however its physiological function remains unclear. Here the authors report that recessive SNUPN mutations cause a distinct subtype of childhood muscular dystrophy and reveal SNURPORTIN-1's role in muscle homeostasis, offering insights for new therapeutic strategies. [ABSTRACT FROM AUTHOR]

Using lignocellulosic raw materials as substrate for biotechnological applications has been a focus of research during the last two decades. They contain sugars, which can be used in industrial fermentation processes, in from of polysaccharides (cellulose, hemicellulose). Wheat straw, one representative of lignocellulosic materials, is sustainably and abundantly available, especially in Europe and North America. However, wheat straw, just like any other lignocellulosic material, needs to be pretreated in one way or the other in order to generate sufficient quantities of monosaccharides. One widely used pretreatment for lignocellulosic material is steam explosion combined with enzymatic hydrolysis. In this study, the effects of steam exploding wheat straw in combination with water are presented. By impregnation with water, saccharide yields from subsequent enzymatic hydrolysis increased from 18.8 to 22.6 g L−1 for glucose and 13.8 to 16.4 g L−1 for xylose, respectively. Moreover, the basic steam explosion parameters residence time and temperature were optimized in ranges from 5 to 20 min and 180–200 °C. This further optimization increased the maximum saccharide yield to 41.2 g L−1 for glucose (200 °C, 15 min) and 18.9 g L−1 for xylose (190 °C, 10 min). Finally, the growth of the intensively investigated biotechnological production host Yarrowia lipolytica on hydrolysates derived from different steam explosion parameters was evaluated. Y. lipolytica grew well in media containing up to 90% wheat straw hydrolysate as sole carbon source, demonstrating the potential as substrate for biotechnological processes. [ABSTRACT FROM AUTHOR]

A layoff is a threatening yet common event which employees might face at some point in their working lives. In two scenario-based experiments (total N = 344), we investigated which actions of a layoff agent (i.e., who delivers the layoff notice) during a dismissal notification meeting may contribute to laid-off employees' fairness judgments and negative attitudes toward the employer. In general, the extent to which layoff victims were treated with respect was consistently found to increase perceptions of interpersonal and procedural fairness and to mitigate negative attitudes toward the employer. Further results showed that layoff victims preferred to be given an adequate (vs. inadequate) explanation of the reasons for the layoff and to receive notice from the direct supervisor (vs. an external consultant). Relationships between the layoff agent's actions and layoff victims' negative attitudes toward the employer were mediated by perceptions of procedural fairness. In addition, delegating the layoff agent's task to an external consultant increased perceived psychological contract breach. Our findings have important implications for organizational justice research and for the managerial practice of implementing fair layoffs. In particular, small actions, such as treating employees with respect, might be of benefit both to humans and organizations. [ABSTRACT FROM AUTHOR]