Publications by authors named "M Menotta"

Article Synopsis
  • Gyrate atrophy of the choroid and retina (GACR) is a rare genetic disorder caused by a shortage of the enzyme hOAT, leading to harmful accumulation of ornithine and resultant vision loss.
  • Researchers have tested the potential of using red blood cells (RBCs) to deliver hOAT enzyme replacement therapy (ERT), finding that both forms of hOAT can maintain activity when loaded into RBCs.
  • Initial experiments show that hOAT-loaded RBCs can effectively process ornithine in conditions resembling those of GACR patients, suggesting that this approach could serve as a viable new treatment option.
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Background: Metabolomics, the study of substrates and products of cellular metabolism, offers valuable insights into an organism's state under specific conditions and has the potential to revolutionise preventive healthcare and pharmaceutical research. However, analysing large metabolomics datasets remains challenging, with available methods relying on limited and incompletely annotated metabolic pathways.

Methods: This study, inspired by well-established methods in drug discovery, employs machine learning on metabolite fingerprints to explore the relationship of their structure with responses in experimental conditions beyond known pathways, shedding light on metabolic processes.

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The future of biomaterial production will leverage biotechnology based on the domestication of cells as biological factories. Plants, algae, and bacteria can produce low-environmental impact biopolymers. Here, two strategies were developed to produce a biopolymer derived from a bioengineered vacuolar storage protein of the common bean (phaseolin; PHSL).

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Reduction in oxygen levels is a key feature in the physiology of the bone marrow (BM) niche where hematopoiesis occurs. The BM niche is a highly vascularized tissue and endothelial cells (ECs) support and regulate blood cell formation from hematopoietic stem cells (HSCs). While in vivo studies are limited, ECs when cultured in vitro at low O (<5%), fail to support functional HSC maintenance due to oxidative environment.

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Ataxia-Telangiectasia (A-T) is a very rare autosomal recessive multisystemic disorder which to date is still uncurable. The use of glucocorticoid analogs, such as dexamethasone (dex), can improve neurological symptoms in patients, but the molecular mechanism of action of these analogs remains unclear. Here, we report the effects of dex in regulating the interaction between Lamin A/C and HDAC2 in WT and A-T cells.

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