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排序方式: 共有144条查询结果,搜索用时 10 毫秒
1.
Romina Combi Maria Salsone Chiara Villa Luigi Ferini-Strambi 《International journal of molecular sciences》2021,22(8)
Dementia with Lewy bodies (DLB) is one of the most common causes of dementia and belongs to the group of α-synucleinopathies. Due to its clinical overlap with other neurodegenerative disorders and its high clinical heterogeneity, the clinical differential diagnosis of DLB from other similar disorders is often difficult and it is frequently underdiagnosed. Moreover, its genetic etiology has been studied only recently due to the unavailability of large cohorts with a certain diagnosis and shows genetic heterogeneity with a rare contribution of pathogenic mutations and relatively common risk factors. The rapid increase in the reported cases of DLB highlights the need for an easy, efficient and accurate diagnosis of the disease in its initial stages in order to halt or delay the progression. The currently used diagnostic methods proposed by the International DLB consortium rely on a list of criteria that comprises both clinical observations and the use of biomarkers. Herein, we summarize the up-to-now reported knowledge on the genetic architecture of DLB and discuss the use of prodromal biomarkers as well as recent promising candidates from alternative body fluids and new imaging techniques. 相似文献
2.
Romina Romaniello Ludovica Pasca Elena Panzeri Fulvio DAbrusco Lorena Travaglini Valentina Serpieri Sabrina Signorini Chiara Aiello Enrico Bertini Maria Teresa Bassi Enza Maria Valente Ginevra Zanni Renato Borgatti Filippo Arrigoni 《International journal of molecular sciences》2022,23(12)
The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with different types of autosomal dominant spinocerebellar ataxia: SCA15 (adult onset), SCA29 (early-onset), and Gillespie syndrome. Cerebellar atrophy/hypoplasia is invariably detected, but a recognizable neuroradiological pattern has not been identified yet. With the aim of describing ITPR1-related neuroimaging findings, the brain MRI of 14 patients with ITPR1 variants (11 SCA29, 1 SCA15, and 2 Gillespie) were reviewed by expert neuroradiologists. To further evaluate the role of superior vermian and hemispheric cerebellar atrophy as a clue for the diagnosis of ITPR1-related conditions, the ITPR1 gene was sequenced in 5 patients with similar MRI pattern, detecting pathogenic variants in 4 of them. Considering the whole cohort, a distinctive neuroradiological pattern consisting in superior vermian and hemispheric cerebellar atrophy was identified in 83% patients with causative ITPR1 variants, suggesting this MRI finding could represent a hallmark for ITPR1-related disorders. 相似文献
3.
Lorenzo Landini Daniel Souza Monteiro de Araujo Mustafa Titiz Pierangelo Geppetti Romina Nassini Francesco De Logu 《International journal of molecular sciences》2022,23(9)
The transient receptor potential ankyrin 1 (TRPA1), a member of the TRP superfamily of channels, is primarily localized in a subpopulation of primary sensory neurons of the trigeminal, vagal, and dorsal root ganglia, where its activation mediates neurogenic inflammatory responses. TRPA1 expression in resident tissue cells, inflammatory, and immune cells, through the indirect modulation of a large series of intracellular pathways, orchestrates a range of cellular processes, such as cytokine production, cell differentiation, and cytotoxicity. Therefore, the TRPA1 pathway has been proposed as a protective mechanism to detect and respond to harmful agents in various pathological conditions, including several inflammatory diseases. Specific attention has been paid to TRPA1 contribution to the transition of inflammation and immune responses from an early defensive response to a chronic pathological condition. In this view, TRPA1 antagonists may be regarded as beneficial tools for the treatment of inflammatory conditions. 相似文献
4.
Giulia Cisbani Alex Koppel Adam H. Metherel Mackenzie E. Smith Kankana N. Aji Ana C. Andreazza Romina Mizrahi Richard P. Bazinet 《Lipids》2022,57(2):125-140
Cannabis is now legal in many countries and while numerous studies have reported on its impact on cognition and appetite regulation, none have examined fatty acid metabolism in young cannabis users. We conducted an exploratory analysis to evaluate cannabis impact on fatty acid metabolism in cannabis users (n = 21) and non-cannabis users (n = 16). Serum levels of some saturated and monounsaturated fatty acids, including palmitic, palmitoleic, and oleic acids were higher in cannabis users compared to nonusers. As palmitic acid can be derived from diet or lipogenesis from sugars, we evaluated lipogenesis using a de novo lipogenesis index (palmitate/linoleic acid) and carbon-specific isotope analysis, which allows for the determination of fatty acid 13C signature. The significantly higher de novo lipogenesis index in the cannabis users group along with a more enriched 13C signature of palmitic acid suggested an increase in lipogenesis. In addition, while serum glucose concentration did not differ between groups, pyruvate and lactate were lower in the cannabis user group, with pyruvate negatively correlating with palmitic acid. Furthermore, the endocannabinoid 2-arachidonoylglycerol was elevated in cannabis users and could contribute to lipogenesis by activating the cannabinoid receptor 1. Because palmitic acid has been suggested to increase inflammation, we measured peripheral cytokines and observed no changes in inflammatory cytokines. Finally, an anti-inflammatory metabolite of palmitic acid, palmitoylethanolamide was elevated in cannabis users. Our results suggest that lipogenic activity is increased in cannabis users; however, future studies, including prospective studies that control dietary intake are required. 相似文献
5.
Romina Fernández Varela Dr. Ana Laura Valino Dr. Eman Abdelraheem Dr. Rosario Médici Dr. Melisa Sayé Dr. Claudio A. Pereira Dr. Peter-Leon Hagedoorn Prof. Ulf Hanefeld Prof. Adolfo Iribarren Prof. Elizabeth Lewkowicz 《Chembiochem : a European journal of chemical biology》2022,23(13):e202200147
In nature 2-deoxy-D-ribose-5-phosphate aldolase (DERA) catalyses the reversible formation of 2-deoxyribose 5-phosphate from D-glyceraldehyde 3-phosphate and acetaldehyde. In addition, this enzyme can use acetaldehyde as the sole substrate, resulting in a tandem aldol reaction, yielding 2,4,6-trideoxy-D-erythro-hexapyranose, which spontaneously cyclizes. This reaction is very useful for the synthesis of the side chain of statin-type drugs used to decrease cholesterol levels in blood. One of the main challenges in the use of DERA in industrial processes, where high substrate loads are needed to achieve the desired productivity, is its inactivation by high acetaldehyde concentration. In this work, the utility of different variants of Pectobacterium atrosepticum DERA (PaDERA) as whole cell biocatalysts to synthesize 2-deoxyribose 5-phosphate and 2,4,6-trideoxy-D-erythro-hexapyranose was analysed. Under optimized conditions, E. coli BL21 (PaDERA C-His AA C49M) whole cells yields 99 % of both products. Furthermore, this enzyme is able to tolerate 500 mM acetaldehyde in a whole-cell experiment which makes it suitable for industrial applications. 相似文献
6.
Ana Paula Arvalo Romina Castelli Manuel Ibarra Martina Crispo Victoria Calzada 《International journal of molecular sciences》2022,23(5)
Recent biotechnological applications in the field of clinical oncology led to the identification of new biomarkers as molecular targets of cancer, and to broad developments in the field of personalized medicine. Aptamers are oligonucleotides (ssDNA or RNA) that are selected to specifically recognize a molecular target with high affinity and specificity. Based on this, new horizons for their use as molecular imaging probes are being explored. The objective of this work was to evaluate the Sgc8-c aptamer conjugated with Alexa Fluor 647 fluorophore as an imaging probe in a colon tumor xenograft mouse model, with potential application in molecular imaging. In this study, the LS174T cell line was used to induce colorectal adenocarcinoma in nude mice. After confirmation of PTK7 overexpression by immunohistochemistry, in vivo studies were performed. Pharmacokinetic, in vivo and ex vivo biodistribution imaging, and a competition assay were evaluated by fluorescence imaging. In vivo visualization of the probe in the tumors was assessed two hours after aptamer probe administration, exhibiting excellent tumor-to-background ratios in biodistribution studies and high specificity in the competition test. Our results demonstrated the functionality of Scg8-c as an imaging probe for colon cancer, with potential clinical applications. 相似文献
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9.
This study used portable technology based on Experience Sampling Methodology (ESM log) to register workday practices of school principals and heads from Chilean schools who were implementing school improvement plans aimed at developing a culture of organizational learning. For a week, Smartphone devices which beeped seven times a day were given to School Principals and Heads of Technical-Pedagogical Units, who then answered closed questions about their current agenda. Six municipal schools in a district of the V Region of Chile participated in the study. The main results support the notion that, at the time of data collection, most school Principals and Heads of Technical-Pedagogical Units were working alone, and if they were interacting with other people, they were always in command. Following underlying assumed roles, most school principals reported performing administrative tasks, while Heads of Technical-Pedagogical Units mainly addressed instructional issues, fostering a rigid framework for the assignment of tasks. Follow-up semi-structured interviews confirmed that participants were not working as a team but rather alone on important issues and urgent matters. Participants regarded the use of the device as a very practical and useful tool to analyze their daily practices. Results are discussed focusing on the use of portable technology to address methodological issues faced when approaching research on educational leadership from a distributed leadership perspective. 相似文献
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