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152.
Girolamo A. Vitello Francesco Calì Mirella Vinci Carmela Scuderi Francesca LEpiscopo Antonino Musumeci Sebastiano A. Musumeci Antonio G. Nicotera 《Journal of musculoskeletal & neuronal interactions》2020,20(4):610
Spinal muscular atrophy (SMA) refers to a group of genetic neuromuscular disorders affecting lower motor neurons causative of numerous phenotypes. To date, according to the age of onset, maximum muscular activity achieved, and life expectation four types of SMA are recognized, all caused by mutations in the SMN1 gene with SMN2 copy number influencing disease severity. Herein, we describe the case of a 31-year-old young male with normal psychomotor development who has experienced fatigue, cramps, and muscle fasciculations in the lower limbs for a period of 2 months. Based on electrophysiological and clinical findings we performed SMA genetic, clinical exome and RNA expression of candidate genes which led us to suggest SMN1-SMN2 genes [(2+0) and (0+0)] combination as possibly being implicated in the phenotype. 相似文献
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Differences in the chitinolytic activity of mammalian chitinases on soluble and insoluble substrates
Benjamin A. Barad Lin Liu Roberto E. Diaz Ralp Basilio Steven J. Van Dyken Richard M. Locksley James S. Fraser 《Protein science : a publication of the Protein Society》2020,29(4):952-963
Chitin is an abundant polysaccharide used by many organisms for structural rigidity and water repulsion. As such, the insoluble crystalline structure of chitin poses significant challenges for enzymatic degradation. Acidic mammalian chitinase, a processive glycosyl hydrolase, is the primary enzyme involved in the degradation of environmental chitin in mammalian lungs. Mutations to acidic mammalian chitinase have been associated with asthma, and genetic deletion in mice increases morbidity and mortality with age. We initially set out to reverse this phenotype by engineering hyperactive acidic mammalian chitinase variants. Using a screening approach with commercial fluorogenic substrates, we identified mutations with consistent increases in activity. To determine whether the activity increases observed were consistent with more biologically relevant chitin substrates, we developed new assays to quantify chitinase activity with insoluble chitin, and identified a one‐pot fluorogenic assay that is sufficiently sensitive to quantify changes to activity due to the addition or removal of a carbohydrate‐binding domain. We show that the activity increases from our directed evolution screen were lost when insoluble substrates were used. In contrast, naturally occurring gain‐of‐function mutations gave similar results with oligomeric and insoluble substrates. We also show that activity differences between acidic mammalian chitinase and chitotriosidase are reduced with insoluble substrate, suggesting that previously reported activity differences with oligomeric substrates may have been driven by differential substrate specificity. These results highlight the need for assays against physiological substrates when engineering metabolic enzymes, and provide a new one‐pot assay that may prove to be broadly applicable to engineering glycosyl hydrolases. 相似文献
156.
Andjela Bajic Roberto Tarantino Loraine L. Y. Chiu Thomas Duever Stephen D. Waldman 《Biotechnology progress》2020,36(5):e3017
Tissue engineering is a promising option for cartilage repair. However, several hurdles still need to be overcome to develop functional tissue constructs suitable for implantation. One of the most common challenges is the general low capacity of chondrocytes to synthesize cartilage-specific extracellular matrix (ECM). While different approaches have been explored to improve the biosynthetic response of chondrocytes, several studies have demonstrated that the nutritional environment (e.g., glucose concentration and media volume) can have a profound effect on ECM synthesis. Thus, the purpose of this study was to optimize the formulation of cell culture media to upregulate the accumulation of cartilaginous ECM constituents (i.e., proteoglycans and collagen) by chondrocytes in 3D culture. Using response surface methodology, four different media factors (basal media, media volume, glucose, and glutamine) were first screened to determine optimal media formulations. Constructs were then cultured under candidate optimal media formulations for 4 weeks and analyzed for their biochemical and structural properties. Interestingly, the maximal accumulation of proteoglycans and collagen appeared to be elicited by different media formulations. Most notably, proteoglycan accumulation was favored by high volume, low glucose-containing DMEM/F12 (1:1) media whereas collagen accumulation was favored by high volume, high glucose-containing F12 media. While high glutamine-containing media elicited increased DNA content, glutamine concentration had no apparent effect on ECM accumulation. Therefore, optimizing the nutritional environment during chondrocyte culture appears to be a promising, straight-forward approach to improve cartilaginous tissue formation. Future work will investigate the combined effects of the nutritional environment and external stimuli. 相似文献
157.
Glycoconjugate Journal - Two recent papers ( https://doi.org/10.1016/j.cell.2021.04.023 and https://doi.org/10.1038/s41586-021-03566-4 ) extend the definition of glycoconjugates to new classes of... 相似文献
158.
Berti Francesco Romano Maria Rosaria Micoli Francesca Adamo Roberto 《Glycoconjugate journal》2021,38(4):401-409
Glycoconjugate Journal - Neisseria meningitidis is a major cause of bacterial meningitidis worldwide. Children less than five years and adolescents are particularly affected. Nearly all invasive... 相似文献
159.
dos Santos Fernanda Marcelia Pflüger Pricila Fernandes Lazzarotto Leticia Uczay Mariana de Aguida Wesley Roberto da Silva Lisiane Santos Boaretto Fernanda Brião Menezes de Sousa Jayne Torres Picada Jaqueline Nascimento da Silva Torres Iraci Lucena Pereira Patrícia 《Neurochemical research》2021,46(8):2066-2078
Neurochemical Research - Gamma-decanolactone (GD) has been shown to reduce epileptic behavior in different models, inflammatory decreasing, oxidative stress, and genotoxic parameters. This study... 相似文献
160.
Peña Claudia Civit Bárbara Gallego-Schmid Alejandro Druckman Angela Pires Armando Caldeira- Weidema Bo Mieras Eric Wang Feng Fava Jim Canals Llorenç Milà i Cordella Mauro Arbuckle Peter Valdivia Sonia Fallaha Sophie Motta Wladmir 《The International Journal of Life Cycle Assessment》2021,26(2):215-220
The International Journal of Life Cycle Assessment - The current global interest in circular economy (CE) opens an opportunity to make society’s consumption and production patterns more... 相似文献