Review
Biochemistry & Molecular Biology
Aikaterini Berdiaki, Monica Neagu, Ioanna Spyridaki, Andrey Kuskov, Serge Perez, Dragana Nikitovic
Summary: Hyaluronan (HA) is a natural compound that is found on the cell surface and tissue extracellular matrix. It is synthesized by enzymes and degraded by other substances. HA has different effects on the body depending on its molecular weight, with high molecular weight HA being anti-inflammatory and low molecular weight HA being pro-inflammatory. Reactive oxygen species (ROS) can degrade HA and affect vascular integrity, while HA can also play a role in wound healing. Understanding the interactions between ROS and HA is an important research topic.
Article
Biology
Remi Ronzano, Sophie Skarlatou, Bianca K. Barriga, B. Anne Bannatyne, Gardave Singh Bhumbra, Joshua D. Foster, Jeffrey D. Moore, Camille Lancelin, Amanda M. Pocratsky, Mustafa Goerkem Ozyurt, Calvin Chad Smith, Andrew J. Todd, David J. Maxwell, Andrew J. Murray, Samuel L. Pfaff, Robert M. Brownstone, Niccolo Zampieri, Marco Beato
Summary: In this study, multiple viral-tracing methods were used to investigate the organization of premotor interneurons contacting motor pools controlling flexion and extension of the ankle. Contrary to expectations, it was found that these premotor interneurons are highly intermingled with motor neurons, suggesting the absence of clear spatial patterns in the processing of motor instructions.
Review
Materials Science, Biomaterials
Phuong Le Thi, Dieu Linh Tran, Thai Thanh Hoang Thi, Yunki Lee, Ki Dong Park
Summary: The dual role of reactive oxygen and nitrogen species (RONS) in physiological and pathological processes has been widely studied. Injectable hydrogels have emerged as promising biomaterials for controlling RONS levels and have shown potential in regenerative medicine and tissue engineering applications.
REGENERATIVE BIOMATERIALS
(2022)
Article
Biochemistry & Molecular Biology
Miso Lee, Hoai-Thuong Duc Bui, Lan Pham, Songrae Kim, Hyuk Sang Yoo
Summary: The stimuli-responsive liberation of an epidermal growth factor fragment (EGFfr) in nanofibrous meshes has been achieved to enhance wound healing effects. The released EGFfr from EGFfr@TK@NF depends on hydrogen peroxide (H2O2) concentration, significantly improving keratin and collagen gene expression levels in in vitro and in vivo studies, showing promise for wound treatment.
MACROMOLECULAR BIOSCIENCE
(2023)
Review
Biochemistry & Molecular Biology
Kozo Nakai, Daisuke Tsuruta
Summary: Oxygen in the atmosphere is vital for human life, but the metabolites ROS, produced in excess, can exacerbate skin aging and inflammation. Excessive exposure to air pollutants and other harmful substances can stimulate the production of ROS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Barry Halliwell
Summary: The field of oxygen free radicals, antioxidants, and reactive oxygen species (ROS) has seen significant growth, with ROS playing important roles in living organisms. However, many studies lack mechanistic meaning. Detailed understanding of the molecular mechanisms of ROS and appropriate measurement methods for both ROS and oxidative damage are necessary for progress.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Man Sup Kwak, Woo Joong Rhee, Yong Joon Lee, Hee Sue Kim, Young Hun Kim, Min Kyung Kwon, Jeon-Soo Shin
Summary: Oxidative stress induces HMGB1 protein dimerization, which enhances DNA stability by binding to and protecting it from free radical damage. Dimerization of HMGB1 is positively regulated by CuCl2 and H2O2, while mutation prevents dimer formation.
Article
Chemistry, Multidisciplinary
Yeon Su Choi, Kang Moo Huh, Min Suk Shim, In Suh Park, Yong-Yeon Cho, Joo Young Lee, Hye Suk Lee, Han Chang Kang
Summary: This study investigates the release of therapeutics in the cytosol using a diselenide-based drug carrier, identifying GSH as the major trigger for diselenide cleavage and demonstrating synergistic anticancer effects when combining the carrier with an anticancer drug. The research shows that the combined use of diselenide-based drug carrier and drug has a significant inhibitory effect on tumor growth in vivo.
ADVANCED FUNCTIONAL MATERIALS
(2021)
Article
Chemistry, Analytical
Marita A. Cardoso, Helena M. R. Goncalves, Frank Davis
Summary: The understanding of the role of Reactive Oxygen Species (ROS) in biological media has been evolving. ROS have been associated with various health conditions, but they also play a role in the immune response and can be used for therapeutic purposes. However, the short lifespan and limited distribution of ROS have posed challenges to their application. Therefore, the development of innovative sensing strategies for monitoring ROS levels and immune response in real time is crucial.
Review
Agronomy
Rupal Singh Tomar, Sunita Kataria, Anjana Jajoo
Summary: This article explores the recent research on signaling and mechanisms for salt tolerance in plants, focusing on the role of the salt overly sensitive system (SOS) and related antiporters proteins and mitogen-activated protein kinase cascades under salt stress. It also highlights the differential expression of various antioxidative enzymes in C3, C4 and CAM plants.
JOURNAL OF AGRONOMY AND CROP SCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Anne Abot, Steven Fried, Patrice D. Cani, Claude Knauf
Summary: The role of reactive oxygen/nitrogen species as friend or foe messengers in the body is well studied, with their effects depending on concentration in tissues. The intestine, affected by oxidation and inflammation, plays a crucial role in diabetic symptoms. Controlling levels of intestinal reactive oxygen/nitrogen species is a complex balance with potential therapeutic implications.
ANTIOXIDANTS & REDOX SIGNALING
(2022)
Article
Immunology
Nan-Nan Liang, Ying Zhao, Yue-Yue Guo, Zhi-Hui Zhang, Lan Gao, De-Xin Yu, De-Xiang Xu, Shen Xu
Summary: This study found that mitochondria-derived reactive oxygen species (ROS) contribute to renal cell ferroptosis during lipopolysaccharide (LPS)-induced acute kidney injury (AKI). Inhibition of ferroptosis and scavenging of mitochondrial ROS with specific inhibitors, ferrostatin-1 and MitoQ, respectively, attenuated renal lipid peroxidation, ferroptosis-characteristic mitochondrial damage, and renal cell death. These findings suggest that mitochondria-targeted antioxidants may be potential therapeutic agents for sepsis-induced AKI.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2022)
Article
Chemistry, Physical
Juan Xie, Penghui Bai, Chenjie Wang, Ning Chen, Weifeng Chen, Ming Duan, Hu Wang
Summary: This study investigates the effect of doping SrTiO3 with an extremely low concentration of NiP on the catalytic activity of water splitting under visible light irradiation. It is found that the transformation of oxygen species and the construction of reactive lattice oxygen play a crucial role in improving the hydrogen generation performance. Adjusting the ratio of different oxygen species is an effective strategy to fabricate high-performance photocatalysts for H-2 evolution.
ACS APPLIED ENERGY MATERIALS
(2022)
Article
Chemistry, Physical
Hyungjun Kim, Sojung Koo, Jaewoon Lee, Jinwoo Lee, Sangeon Park, Maenghyo Cho, Duho Kim
Summary: A novel electrochemistry involving anion redox via oxygen ions has been investigated for high-energy-density cathodes in alkali-ion batteries. The stability of Mg2+ site and interlayer O - O dimerization are found to be critical factors affecting the hysteretic oxygen capacity. These findings provide insights into improving the performance of sodium-ion batteries by utilizing oxygen redox reactions.
ENERGY STORAGE MATERIALS
(2022)
Review
Engineering, Biomedical
Shiyong Zhang, Liying Wang, Yunze Kang, Jun Wu, Ziji Zhang
Summary: Reactive oxygen species (ROS) have significant roles in physiological and pathophysiological processes. Recent studies have shown that ROS plays a crucial role in the development and progression of osteoarthritis (OA) by mediating extracellular matrix degradation, mitochondrial dysfunction, chondrocyte apoptosis, and OA progression. Nanomaterials with ROS-scavenging ability and antioxidant effects have shown promising results in OA treatment. However, current research on nanomaterials as ROS scavengers for OA is not uniform, and the timing and potential of their clinical use remain inconsistent. This review aims to provide a reference for further studies and promote the early clinical use of nanomaterials for OA treatment.
ACTA BIOMATERIALIA
(2023)
Article
Biochemistry & Molecular Biology
Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L. Welch, Paolo C. Colombo, Stephanie M. Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K. Chung, Filippo Del Bene, Marco Tartaglia
Summary: Kinesins are motor proteins involved in intracellular transport, contributing to key cellular processes. Pathogenic variants in kinesin-encoding genes underlie human diseases. Understanding the significance of these variants is important for better understanding the cellular transport system and its relationship with diseases.
HUMAN MOLECULAR GENETICS
(2023)
Article
Genetics & Heredity
Anne-Sophie Denomme-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Yannis Duffourd, Kornelia Ellwanger, Chiara Fallerini, Christian Gilissen, Holm Graessner, Tobias B. Haack, Marketa Havlovicova, Alexander Hoischen, Nolwenn Jean-Marcais, Tjitske Kleefstra, Estrella Lopez-Martin, Milan Macek, Maria Antonietta Mencarelli, Sebastien Moutton, Rolph Pfundt, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Hana Safraou, Martin Schwarz, Marco Tartaglia, Christel Thauvin-Robinet, Julien Thevenon, Frederic Tran Mau-Them, Aurelien Trimouille, Pavel Votypka, Bert B. A. de Vries, Marjolein H. Willemsen, Birte Zurek, Alain Verloes, Christophe Philippe, Antonio Vitobello, Lisenka E. L. M. Vissers, Laurence Faivre
Summary: Within the Solve-RD project, the European Reference Network aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. The results of the ClinVar low-hanging fruit reanalysis, reasons for previous analysis failure, and lessons learned are presented.
GENETICS IN MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Valerio Secli, Claudia Di Biagio, Arianna Martini, Emma Michetti, Francesca Pacello, Serena Ammendola, Andrea Battistoni
Summary: The innate immune responses of zebrafish embryos to microbial infections include strategies based on manipulating the concentration of metals such as iron and zinc. Infection experiments with different Pseudomonas aeruginosa strains have shown that strains lacking critical components of zinc importers have reduced colonization capacity but have an advantage in the early stages of infection. The expression of genes involved in zinc transport suggests the existence of antimicrobial mechanisms based on zinc sequestration, indicating the similarity of nutritional immunity mechanisms between teleosts and higher vertebrates.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Burak Tepe, Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz-Rogers, Yuri A. Zarate, G. Bradley Schaefer, Jorge Luis Granadillo De Luque, Daniel J. Wegner, Benjamin Cogne, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Eric J. Wagner, Lynn S. Pais, Jennifer E. Neil, Ganeshwaran H. Mochida, Christopher A. Walsh, Nurit Magal, Valerie Drasinover, Mordechai Shohat, Tanya Schwab, Chris Schmitz, Karl Clark, Anthony Fine, Brendan Lanpher, Ralitza Gavrilova, Pierre Blanc, Lydie Burglen, Alexandra Afenjar, Dora Steel, Manju A. Kurian, Prab Prabhakar, Sophie Gosswein, Nataliya Di Donato, Enrico S. Bertini, Michael F. Wangler, Shinya Yamamoto, Marco Tartaglia, Eric W. Klee, Hugo J. Bellen
Summary: This study discovered that the Integrator complex is involved in the processing of various types of RNAs and that INTS11 is the catalytic subunit responsible for RNA cleavage. Mutations in INTS11 have been found to be associated with developmental delay, intellectual disability, impaired motor development, and brain atrophy. The study used Drosophila as a model organism to investigate the effects of different variants of INTS11.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Letter
Genetics & Heredity
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Lucrezia Perri, Valentina Trevisan, Elisabetta Flex, Marco Tartaglia, Giuseppe Zampino
Article
Genetics & Heredity
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Kloeckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L. Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti-Pierri, Deniz Torun, Mutluay Arslan, Mathilde F. Lauridsen, Oliver Murch, Rachel Irving, Sally A. Lynch, Sarju G. Mehta, Jenny Carmichael, Evelien Zonneveld-Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M. Johannesen, Ian T. Westphall, Susan S. Hughes, Sarah Smithson, Julie Evans, Tracy Dudding-Byth, Marleen Simon, Ellen van Binsbergen, Johanna C. Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S. Moller, Guido Rubboli, Allan Bayat
Summary: POU3F3 variants are associated with developmental delay, behavioral problems, hypotonia, and dysmorphic features. This study investigated the phenotypic and genetic characteristics of individuals with POU3F3-related disorders and identified genotype-phenotype correlations. The study included 28 individuals from 26 families carrying POU3F3 variants, and identified additional features such as gastrointestinal comorbidities, hearing loss, ophthalmological anomalies, epilepsy, sleep disturbances, and joint hypermobility. In silico structural modeling predicted that the pathogenic variants destabilize the DNA-binding region of POU3F3.
Article
Cell Biology
Elena Papaleo, Matteo Tiberti, Matteo Arnaudi, Chiara Pecorari, Fiorella Faienza, Lisa Cantwell, Kristine Degn, Francesca Pacello, Andrea Battistoni, Matteo Lambrughi, Giuseppe Filomeni
Summary: S-nitrosylation is a post-translational modification where nitric oxide (NO) binds to cysteine, forming an S-nitrosothiol (SNO) adduct. This process plays various roles in physiology and is also associated with several diseases, including cancer. In this study, we investigated the structural changes induced by S-nitrosylation in the mitochondrial chaperone TRAP1. We found that the SNO site promotes conformational changes in the nearby cysteine, facilitating disulfide bridge formation. Additionally, we analyzed thousands of S-nitrosylated proteins to identify proximal cysteines sensitive to the redox state of the SNO site, providing new insights into the biological effects of redox switches.
CELL DEATH & DISEASE
(2023)
Article
Cell Biology
Vanda Friman, Isabella Quinti, Alexey N. Davydov, Mikhail Shugay, Chiara Farroni, Erik Engstrom, Shirin Pour Akaber, Sabina Barresi, Ahmed Mohamed, Federica Pulvirenti, Cinzia Milito, Guido Granata, Ezio Giorda, Sara Ahlstrom, Johanna Karlsson, Emiliano Marasco, Valentina Marcellini, Chiara Bocci, Simona Cascioli, Marco Scarsella, Ganesh Phad, Andreas Tilevik, Marco Tartaglia, Mats Bemark, Dmitriy M. Chudakov, Rita Carsetti, Ola Grimsholm
Summary: CVID is a heterogeneous disorder characterized by recurrent infections, low levels of serum immunoglobulins, and impaired vaccine responses. Autoimmune manifestations are common, but the mechanisms of B cell central and peripheral selection in CVID are not fully understood. This study found that central tolerance is increased in transitional B cells from CVID patients with autoimmune manifestations, while the selection pressure in germinal center on CD27bright memory B cells is decreased. Naive B cells in CVID patients also showed poor activation and induction of mismatch repair genes. These findings suggest defective peripheral selection in CVID patients with autoimmune manifestations, which may contribute to the development of autoimmunity.
Article
Neurosciences
Luca Pannone, Valentina Muto, Francesca Nardecchia, Martina Di Rocco, Emilia Marchei, Federica Tosato, Stefania Petrini, Giada Onorato, Enrico Lanza, Lucia Bertuccini, Filippo Manti, Viola Folli, Serena Galosi, Elia Di Schiavi, Vincenzo Leuzzi, Marco Tartaglia, Simone Martinelli
Summary: De novo CLTC mutations are responsible for a spectrum of early-onset neurodevelopmental disorders characterized by developmental delay/intellectual disability, epilepsy, and movement disorders. The mutations lead to defective endocytosis and cell cycle transition, resulting in aberrant synaptic transmission and neurotransmitter release, ultimately affecting neurodevelopment and function.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Genetics & Heredity
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Marco Tartaglia, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Summary: Pathogenic variants in RASA1 are associated with CM-AVM syndrome, which is characterized by a wide phenotypic variability, mainly affecting the central nervous system, spine, and skin. This condition has rarely been reported during the prenatal period, but it is important to recognize its prenatal signs due to the potential fatal consequences of undetected vascular malformations in newborns and family members.
Article
Clinical Neurology
Emanuela Salzano, Marcello Niceta, Simone Pizzi, Francesca Clementina Radio, Martina Buse, Francesca Mercadante, Sabina Barresi, Arturo Ferrara, Cecilia Mancini, Marco Tartaglia, Maria Piccione
Summary: Biallelic loss-of-function variants in MED23 can cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). The clinical phenotype of the disorder has not been fully described yet due to the small number of reported individuals, and the spectrum and frequency of neurologic features have not been fully characterized. This study reports a 5-year-old girl with compound heterozygous for two additional MED23 variants, who exhibits global developmental delay, axial hypotonia, peripheral increased muscular tone, absent speech, generalized tonic seizures, and postnatal progressive microcephaly.
FRONTIERS IN NEUROLOGY
(2023)
Article
Genetics & Heredity
Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, Giancarlo Iarossi, Laura Chioma, Marialisa Dentici, Giuseppe Merla, Emanuele Agolini, Alessia Micalizzi, Cecilia Mancini, Marcello Niceta, Marina Macchiaiolo, Daria Diodato, Roberta Onesimo, Rita Blandino, Angelica Bibiana Delogu, Gabriella De Rosa, Valentina Trevisan, Mariella Iademarco, Giuseppe Zampino, Marco Tartaglia, Antonio Novelli, Andrea Bartuli, Maria Cristina Digilio, Giulio Calcagni
Summary: Variants in the CTNNB1 gene are associated with neurodevelopmental disorder, visual defects, and congenital heart anomalies. A study on 19 NEDSDV patients found that 5 of them had congenital heart defects, highlighting the importance of cardiac examination in NEDSDV clinical management.
Article
Oncology
Agostino Bucalo, Giulia Conti, Virginia Valentini, Carlo Capalbo, Alessandro Bruselles, Marco Tartaglia, Bernardo Bonanni, Daniele Calistri, Anna Coppa, Laura Cortesi, Giuseppe Giannini, Viviana Gismondi, Siranoush Manoukian, Livia Manzella, Marco Montagna, Paolo Peterlongo, Paolo Radice, Antonio Russo, Maria Grazia Tibiletti, Daniela Turchetti, Alessandra Viel, Ines Zanna, Domenico Palli, Valentina Silvestri, Laura Ottini
Summary: A study conducted in Italy found that pathogenic variants in genes other than BRCA1/2 are associated with an increased risk of male breast cancer (MBC), particularly in the PALB2 and ATM genes. These findings provide valuable information for MBC patients in terms of disease prevention and decision-making.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Genetics & Heredity
Lydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, Katie M. Chan, Christel Depienne, Orly Elpeleg, Maria Iascone, Whitley V. Kelley, Marie-Cecile Nassogne, Marcello Niceta, Lidia Pezzani, Nils Rahner, Nicole Revencu, Mir Reza Bekheirnia, Teresa Santiago-Sim, Marco Tartaglia, Michelle L. Thompson, Marina Trivisano, Julia Hentschel, Heinrich Sticht, Rami Abou Jamra, Henry Oppermann
Summary: The study aimed to characterize the neurodevelopmental disorder associated with heterozygous de novo variants in CNOT9 both clinically and molecularly. Variants were identified using exome or genome sequencing and evaluated using in silico predictions. The study suggests CNOT9 as a novel gene for neurodevelopmental disorder and epilepsy.
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, Maria Cistina Digilio, Maria Lisa Dentici, Maria Macchiaiolo, Antonio Novelli, Andrea Bartuli, Lorenzo Sinibaldi, Marco Tartaglia, Giuseppe Zampino
Summary: CTNNB1 syndrome is a neurodevelopmental disorder caused by variants in the CTNNB1 gene, characterized by developmental delay, intellectual disability, and behavioral disturbances. This study examines feeding issues and oral-motor dyspraxia in 10 patients and identifies coordination difficulties and drooling as common problems in this cohort.
