Publications

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7 Publications visible to you, out of a total of 13

Abstract (Expand)

This paper explores key success factors for the development and implementation of a Common Data Model (CDM) for Rare Diseases (RDs) focusing on the European context. Several challenges hinder RD care and research in diagnosis, treatment, and research, including data fragmentation, lack of standardisation, and Interoperability (IOP) issues within healthcare information systems. We identify key issues and recommendations for an RD-CDM, drawing on international guidelines and existing infrastructure, to address organisational, consensus, interoperability, usage, and secondary use challenges. Based on these, we analyse the importance of balancing the scope and IOP of a CDM to cater to the unique requirements of RDs while ensuring effective data exchange and usage across systems. In conclusion, a well-designed RD-CDM can bridge gaps in RD care and research, enhance patient care and facilitate international collaborations.

Authors: A. S. L. Graefe, F. Rehburg, M. Hubner, S. Thun, O. Beyan

Date Published: 22nd Aug 2024

Publication Type: Proceedings

Abstract (Expand)

The evolutional development of the RNA translation process that leads to protein synthesis based on naturally occurring amino acids has its continuation via synthetic biology, the so-called rational bioengineering. Genetic code expansion (GCE) explores beyond the natural translational processes to further enhance the structural properties and augment the functionality of a wide range of proteins. Prokaryotic and eukaryotic ribosomal machinery have been proven to accept engineered tRNAs from orthogonal organisms to efficiently incorporate noncanonical amino acids (ncAAs) with rationally designed side chains. These side chains can be reactive or functional groups, which can be extensively utilized in biochemical, biophysical, and cellular studies. Genetic code extension offers the contingency of introducing more than one ncAA into protein through frameshift suppression, multi-site-specific incorporation of ncAAs, thereby increasing the vast number of possible applications. However, different mediating factors reduce the yield and efficiency of ncAA incorporation into synthetic proteins. In this review, we comment on the recent advancements in genetic code expansion to signify the relevance of systems biology in improving ncAA incorporation efficiency. We discuss the emerging impact of tRNA modifications and metabolism in protein design. We also provide examples of the latest successful accomplishments in synthetic protein therapeutics and show how codon expansion has been employed in various scientific and biotechnological applications.

Authors: O. M. Lateef, M. O. Akintubosun, O. T. Olaoba, S. O. Samson, M. Adamczyk

Date Published: 15th Jan 2022

Publication Type: Journal

Abstract (Expand)

To reduce anthropological pressure on the environment, the implementation of novel technologies in present and future economies is needed for sustainable development. The food industry, with dairy andwith dairy and meat production in particular, has a significant environmental impact. Global poultry production is one of the fastest-growing meat producing sectors and is connected with the generation of burdensome streams of manure, offal and feather waste. In 2020, the EU alone produced around 3.2 million tonnes of poultry feather waste composed primarily of keratin, a protein biopolymer resistant to conventional proteolytic enzymes. If not managed properly, keratin waste can significantly affect ecosystems, contributing to environmental pollution, and pose a serious hazard to human and livestock health. In this article, the application of keratinolytic enzymes and microorganisms for promising novel keratin waste management methods with generation of new value-added products, such as bioactive peptides, vitamins, prion decontamination agents and biomaterials were reviewed.

Authors: Marcin Sypka, Iga Jodłowska, Aneta M. Białkowska

Date Published: 1st Dec 2021

Publication Type: Journal

Abstract (Expand)

Pyruvate kinase is an enzyme that catalyzes the conversion of phosphoenolpyruvate and ADP to pyruvate and ATP in glycolysis and plays a role in regulating cell metabolism. There are four mammalian pyruvate kinase isoforms with unique tissue expression patterns and regulatory properties. The M2 isoform of pyruvate kinase (PKM2) supports anabolic metabolism and is expressed both in cancer and normal tissue. The enzymatic activity of PKM2 is allosterically regulated by both intracellular signaling pathways and metabolites; PKM2 thus integrates signaling and metabolic inputs to modulate glucose metabolism according to the needs of the cell. Recent advances have increased our understanding of metabolic regulation by pyruvate kinase, raised new questions, and suggested the possibility of non-canonical PKM2 functions to regulate gene expression and cell cycle progression via protein-protein interactions and protein kinase activity. Here we review the structure, function, and regulation of pyruvate kinase and discuss how these properties enable regulation of PKM2 for cell proliferation and tumor growth.

Authors: W. J. Israelsen, M. G. Vander Heiden

Date Published: 17th Aug 2015

Publication Type: Journal

Abstract (Expand)

SUMMARY Jumping spiders, or salticids, sample their environment using a combination of two types of eyes. The forward-facing pair of ‘principal’ eyes have narrow fields of view, but exceptional spatialw, but exceptional spatial resolution, while the two or three pairs of ‘secondary’ eyes have wide fields of view and function especially well as motion analysers. Motion detected by the secondary eyes may elicit an orienting response, whereupon the object of interest is examined further using the high-acuity principal eyes. The anterior lateral (AL) eyes are particularly interesting, as they are the only forward-facing pair of secondary eyes. In this study, we aimed to determine characteristics of stimuli that elicit orienting responses mediated by the AL eyes. After covering all eyes except the AL eyes, we measured orienting responses to dot stimuli that varied in size and contrast, and moved at different speeds. We found that all stimulus parameters had significant effects on orientation propensity. When tethered flies were used as prey, we found that visual information from the AL eyes alone was sufficient to elicit stalking behaviour. These results suggest that, in terms of overall visual processing, the relevance of spatial vision in the AL eyes has been underestimated in the literature. Our results also show that female spiders are significantly more responsive than males. We found that hunger caused similar increases in orientation propensity in the two sexes, but females responded more often than males both when sated and when hungry. A higher propensity by females to orient toward moving objects may be related to females tending to experience higher nutritional demands than males.

Authors: Daniel B. Zurek, Alan J. Taylor, Christopher S. Evans, Ximena J. Nelson

Date Published: 15th Jul 2010

Publication Type: Journal

Abstract (Expand)

Although the metabolism of liver–derived plasma proteins such as albumin has been extensively studied, human hepatic protein synthesis as a whole has not been well characterized, because a reproducible a whole has not been well characterized, because a reproducible model for obtaining human liver tissue has not been available. In this study, the fractional synthesis rates of total liver protein and albumin in vivo were determined simultaneously in nine subjects undergoing elective laparoscopic cholecystectomy. l–[2H5]phenylalanine (45 mg/kg body wt) was administered for 10 minutes intravenously. Blood samples were collected at regular intervals for 90 minutes and a liver biopsy specimen was taken at 35 ± 7 minutes. The enrichments of plasma free phenylalanine, plasma albumin, and total liver protein were measured with gas chromatography mass spectrometry (GC–MS). The fractional synthesis rate (FSR) of total liver protein was 24.7 ± 3.1 %/d (mean ± SD), and that of albumin was 5.9 ±1.2%/d. The amount of albumin synthesized per day (absolute synthesis rate, ASR) was 109 ± 21 mg/kg body wt. No correlation between FSR of total liver protein and ASR of albumin was found. It is concluded that the technique of obtaining liver tissue specimens during laparoscopic surgery may serve as a human in vivo model to study total liver protein synthesis. The fractional synthesis rate of total liver proteins (stationary and exported), equals approximately 25% of the liver protein content daily. Within the range of values of this study, the absolute synthesis rate of albumin was not correlated to the fractional synthesis rate of total liver protein.

Authors: H. Barle, B. Nyberg, P. Essén, K. Andersson, M. A. McNurlan, J. Wernerman, P. J. Garlick

Date Published: 1997

Publication Type: Journal

Abstract

Not specified

Authors: A. Schmoldt, H. F. Benthe, G. Haberland

Date Published: 1st Sep 1975

Publication Type: Journal

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