No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant [PDF]
Molecular Genetics & Genomic MedicineBackground Fabry disease (FD) is a rare X‐linked lysosomal storage disorder caused by variants in GLA gene leading to deficient α‐galactosidase A enzyme activity.
Irene Capelli +9 more
doaj +3 more sources
Selection, Identification and Functional Performance of Ammonia-Degrading Microbial Communities from an Activated Sludge for Landfill Leachate Treatment [PDF]
Microorganisms, 2023 The increasing amounts of municipal solid waste and their management in landfills caused an increase in the production of leachate, a liquid formed by the percolation of rainwater through the waste.
Rossana Petrilli +7 more
doaj +2 more sources
Protective Effect of Chlorogenic Acid on Human Sperm: In Vitro Studies and Frozen–Thawed Protocol [PDF]
Antioxidants, 2021 The study evaluated the chlorogenic acid (CGA) antioxidant potential on oxidative stress (OS) induced in vitro in human spermatozoa and during cryopreservation procedure.
Daria Noto +6 more
doaj +2 more sources
Redox imbalance induced by docetaxel in the neuroblastoma SH-SY5Y cells: a study of docetaxel-induced neuronal damage [PDF]
Redox Report, 2021 Objectives In cancer survivors, chemotherapy-associated adverse neurological effects are described as side effects in non-targeted tissue. We investigated the role of redox-imbalance in neuronal damage by a relative low dose of Docetaxel (DTX).
Lucia Micheli +7 more
doaj +2 more sources
Tissue Antioxidant Status and Lipid Peroxidation Are Related to Dietary Intake of n-3 Polyunsaturated Acids: A Rabbit Model [PDF]
Antioxidants, 2021 Polyunsaturated fatty acid (PUFA) metabolism and tissue distribution is modulated by the oxidation of these molecules. This research aimed to investigate the implication of dietary n-3 PUFA supplementation (precursor and long-chain PUFA) on the PUFA ...
Simona Mattioli +13 more
doaj +2 more sources
Identification of an Epi-metabolic dependency on EHMT2/G9a in T-cell acute lymphoblastic leukemia [PDF]
Cell Death and Disease, 2022 Genomic studies have identified recurrent somatic alterations in genes involved in DNA methylation and post-translational histone modifications in acute lymphoblastic leukemia (ALL), suggesting new opportunities for therapeutic interventions.
Anna Montanaro +28 more
doaj +2 more sources
Iodine Supplemented Diet Positively Affect Immune Response and Dairy Product Quality in Fresian Cow [PDF]
Animals, 2019 The effects of iodine supplementation on the whole-transcriptome of dairy cow using RNA sequencing has been investigated in this study. Iodine did not influence the milk composition, while an improvement was observed in the immune response as well as in ...
Marco Iannaccone +7 more
doaj +2 more sources
Orthogonal proteogenomic analysis identifies the druggable PA2G4-MYC axis in 3q26 AML [PDF]
Nature CommunicationsThe overexpression of the ecotropic viral integration site-1 gene (EVI1/MECOM) marks the most lethal acute myeloid leukemia (AML) subgroup carrying chromosome 3q26 abnormalities.
Matteo Marchesini +33 more
doaj +2 more sources
On the Chemical Stability of DNA-Stabilized Silver Nanoclusters [PDF]
ACS OmegaGiacomo Romolini +3 more
doaj +2 more sources
Revisiting Anti-Stokes Emission Features of DNA-Stabilized Silver Nanoclusters [PDF]
ACS OmegaMikkel Baldtzer Liisberg +4 more
doaj +2 more sources