Article
Multidisciplinary Sciences
Xuemei Cao, Cansu Kose, Christopher P. Selby, Aziz Sancar
Summary: The XR-seq method is widely used for mapping nucleotide excision repair genome-wide. It captures and sequences excised oligomers carrying DNA damage, and aligns their sequences to the genome. Researchers have successfully used ultraviolet light-irradiated plasmids as substrates for repair experiments in Escherichia coli and mammals, and found common excision product characteristics in both systems. This approach helps understand the effects of epigenetics and other cellular factors on DNA repair.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Review
Genetics & Heredity
Jack Wootton, Evi Soutoglou
Summary: The review discusses how chromatin and nuclear environment play key roles in the regulation of eukaryotic genome replication, covering aspects such as higher order organization of the genome, local chromatin environment, and spatial organization of stalled replication forks for resolving replication stress.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Hadar Golan Berman, Pooja Chauhan, Shira Shalev, Hiba Hassanain, Avital Parnas, Sheera Adar
Summary: The study identified that in a specific cell line system, cisplatin resistant cells had less damage but similar repair kinetics. Through mapping gene expression changes, 56 upregulated genes were identified that could potentially impact the response to cisplatin.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Cell Biology
Ksenia G. Kolobynina, Alexander Rapp, M. Cristina Cardoso
Summary: Chromatin serves as the background for all DNA-based molecular processes in the cell nucleus. The initial chromatin structure at the site of DNA damage determines lesion generation and activation of the DNA damage response pathway. Ubiquitination, as an important chromatin post-translational modification, is involved in chromatin changes at the damaged site and throughout the genome.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Erik N. Bergstrom, Jens Luebeck, Mia Petljak, Azhar Khandekar, Mark Barnes, Tongwu Zhang, Christopher D. Steele, Nischalan Pillay, Maria Teresa Landi, Vineet Bafna, Paul S. Mischel, Reuben S. Harris, Ludmil B. Alexandrov
Summary: This study provides a comprehensive characterization of clustered mutations and small insertions and deletions in cancer genomes. The results show that clustered mutations are enriched in driver genes and associated with differential gene expression and overall survival. Different mutational processes contribute to clustered insertions and deletions, including specific signatures in tobacco smokers and homologous-recombination-deficient cancers. APOBEC3 plays a significant role in clustered substitutions, although only a small percentage matches APOBEC3 patterns. The study also reveals the associations between the activation-induced deaminase (AID) and APOBEC3 family of deaminases with kataegis (longer strand-coordinated events).
Review
Cell Biology
John M. M. Danforth, Luc Provencher, Aaron A. A. Goodarzi
Summary: Exposure to environmental ionizing radiation, particularly high-LET radiation, can induce clustered DNA damage that is challenging to repair. Understanding the role of chromatin in the repair process is essential for assessing the effects of radiation exposure.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Osama Garwain, Xiaoming Sun, Divya Ramalingam Iyer, Rui Li, Lihua Julie Zhu, Paul D. Kaufman
Summary: The depletion of Ki-67 in vertebrate mammals can cause DNA damage, particularly in mitotic cells. The C-terminal chromatin-binding domain of Ki-67 plays a crucial role in protecting cells from this damage. Simultaneous depletion of Ki-67 and p53 results in increased chromosome bridges and micronuclei, highlighting the importance of Ki-67 in maintaining genome stability.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Biochemistry & Molecular Biology
Jung Min Kim
Summary: Microtubules are key components of the cytoskeleton and play important roles in cellular processes and genome maintenance. This review highlights recent advances in understanding the role of microtubule dynamics in DNA damage response and repair.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Estanislao Peixoto, Asad Khan, Zachary A. Lewis, Rafael Contreras-Galindo, Wioletta Czaja
Summary: Robust and tightly regulated DNA repair is crucial for maintaining genome stability and preventing cancer. HELLS, a chromatin remodeler, plays important roles in DNA repair, genome stability, and cancer-associated pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Mara De Marco Zompit, Monica Torres Esteban, Clemence Mooser, Salome Adam, Silvia Emma Rossi, Alain Jeanrenaud, Pia-Amata Leimbacher, Daniel Fink, Ann-Marie K. Shorrocks, Andrew N. Blackford, Daniel Durocher, Manuel Stucki
Summary: In this study, CIP2A is identified as a protein that interacts with TOPBP1 and specifically regulates its localization in mitosis. Cells lacking CIP2A show increased radio-sensitivity, micronuclei formation, and chromosomal instability.
NATURE COMMUNICATIONS
(2022)
Review
Biotechnology & Applied Microbiology
Maddalena Mognato, Susanne Burdak-Rothkamm, Kai Rothkamm
Summary: The translated article discusses the complex relationship between DNA replication stress, DDR signaling, and genome integrity in mammalian cells, with a focus on the role of chromatin disposition as an important modulator of DNA repair. It reviews recent data on chromatin restoration and epigenetic re-establishment after DNA replication stress.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
(2021)
Article
Multidisciplinary Sciences
Justin G. Boyer, Jiuzhou Huo, Sarah Han, Julian R. Havens, Vikram Prasad, Brian L. Lin, David A. Kass, Taejeong Song, Sakthivel Sadayappan, Ramzi J. Khairallah, Christopher W. Ward, Jeffery D. Molkentin
Summary: Satellite cells play a crucial role in the progression of muscular dystrophy, and their depletion can improve the pathology and muscle performance in dystrophic mouse models. Mechanistically, satellite cells initiate the expression of MyoD, which induces the re-expression of fetal genes in myofibers, leading to sarcolemmal destabilization. These findings suggest that satellite cell activation and the fetal gene program are maladaptive in chronic muscular dystrophy.
NATURE COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Le P. Ngo, Simran Kaushal, A. Isaac Chaim, Patrizia Mazzucato, Catherine Ricciardi, D. Leona Samson, D. Zachary Nagel, P. Bevin Engelward
Summary: By utilizing the CometChip, researchers uncovered significant variability in DNA repair efficiency among individuals, indicating its potential utility in future epidemiological and clinical studies.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Article
Biotechnology & Applied Microbiology
Martina Fiumara, Samuele Ferrari, Attya Omer-Javed, Stefano Beretta, Luisa Albano, Daniele Canarutto, Angelica Varesi, Chiara Gaddoni, Chiara Brombin, Federica Cugnata, Erika Zonari, Matteo Maria Naldini, Matteo Barcella, Bernhard Gentner, Ivan Merelli, Luigi Naldini
Summary: Base and prime editors have shown potential for precise genetic engineering, but their cellular responses and genotoxicity are not well understood. This study compared the efficiency, toxicity, and genotoxicity between base and prime editors and Cas9 in human hematopoietic cells. The findings suggest that these editors can induce harmful effects and genotoxicity, raising concerns for their clinical applications.
NATURE BIOTECHNOLOGY
(2023)
Review
Cell Biology
Lishu He, Gwen Lomberk
Summary: Disrupted DNA damage signaling poses a significant threat to cell integrity and is closely associated with cancer development. Recent advances in chromatin biology, particularly in histone post-translational modifications, have shown great promise for cancer therapeutics. Key histone methylation pathways play a crucial role in DNA damage repair and tumorigenesis, making them potential targets for cancer treatment strategies.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Engineering, Biomedical
Mariana Conceica, Laura Forcina, Oscar P. B. Wiklander, Dhanu Gupta, Joel Z. Nordin, Besarte Vrellaku, Graham McClorey, Imre Mager, Andre Gorgens, Per Lundin, Antonio Musaro, Matthew J. A. Wood, Samir E. L. Andaloussi, Thomas C. Roberts
Summary: IL6 is a key mediator of inflammation that activates target cells through classical and trans-signalling pathways. Engineered EVs expressing IL6ST decoy receptors can selectively inhibit the IL6 trans-signalling pathway, providing a potential therapeutic target for chronic inflammation.
Article
Cell Biology
Gabriella Dobrowolny, Julie Martone, Elisa Lepore, Irene Casola, Antonio Petrucci, Maurizio Inghilleri, Mariangela Morlando, Alessio Colantoni, Bianca Maria Scicchitano, Andrea Calvo, Giulia Bisogni, Adriano Chio, Mario Sabatelli, Irene Bozzoni, Antonio Musaro
Summary: Through a longitudinal study of circulating miRNAs in ALS patients, it was found that high levels of miR-206, miR-133a, and miR-151a-5p can predict slower clinical decline in patient functionality. The expression of these miRNAs showed different trends at various stages of ALS pathology, suggesting their potential as prognostic markers for the disease.
CELL DEATH DISCOVERY
(2021)
Correction
Cell Biology
Drew Kuraitis, Maria Grazia Berardinelli, Erik J. Suuronen, Antonio Musaro
DISEASE MODELS & MECHANISMS
(2021)
Article
Multidisciplinary Sciences
Beatrice Biferali, Valeria Bianconi, Daniel Fernandez Perez, Sophie Poehle Kronawitter, Fabrizia Marullo, Roberta Maggio, Tiziana Santini, Federica Polverino, Stefano Biagioni, Vincenzo Summa, Carlo Toniatti, Diego Pasini, Sigmar Stricker, Romano Di Fabio, Fulvio Chiacchiera, Giovanna Peruzzi, Chiara Mozzetta
Summary: The study identified Prdm16 as a nuclear envelope protein that anchors H3K9-methylated chromatin in a cell-specific manner and regulates developmental capacities of fibro-adipogenic progenitors (FAPs). Prdm16 orchestrates lamina-associated domain organization and heterochromatin sequestration at the nuclear periphery, affecting gene expression and cell fate in FAPs.
Article
Cell Biology
Laura Pelosi, Maria Grazia Berardinelli, Laura Forcina, Francesca Ascenzi, Emanuele Rizzuto, Marco Sandri, Fabrizio De Benedetti, Bianca Maria Scicchitano, Antonio Musaro
Summary: IL-6 is a pleiotropic cytokine with different and opposite effects under healthy and pathologic conditions. It can stimulate muscle growth in healthy conditions but may lead to muscle wasting in pathological conditions. Increased plasma levels of IL-6 may be associated with stunted growth and muscle wasting.
Article
Cell Biology
Irene Casola, Bianca Maria Scicchitano, Elisa Lepore, Silvia Mandillo, Elisabetta Golini, Carmine Nicoletti, Laura Barberi, Gabriella Dobrowolny, Antonio Musaro
Summary: This study analyzed the expression levels of two myomiRs in different contexts, including ALS disease and denervation models. The results showed that miR-206 and miR-133a exhibit different expression patterns in ALS disease and nerve regeneration processes, which are important for understanding the pathogenesis and treatment of ALS.
Article
Pharmacology & Pharmacy
Silvia Scaricamazza, Illari Salvatori, Susanna Amadio, Valentina Nesci, Alessio Torcinaro, Giacomo Giacovazzo, Aniello Primiano, Michela Gloriani, Niccolo Candelise, Luisa Pieroni, Jean-Philippe Loeffler, Frederique Rene, Cyril Quessada, Tesfaye W. Tefera, Hao Wang, Frederik J. Steyn, Shyuan T. Ngo, Gabriella Dobrowolny, Elisa Lepore, Andrea Urbani, Antonio Musaro, Cinzia Volonte, Elisabetta Ferraro, Roberto Coccurello, Cristiana Valle, Alberto Ferri
Summary: The therapeutic potential of the multi-target drug trimetazidine was evaluated in SOD1(G93A) mice. The results showed that trimetazidine delayed disease progression, improved motor function and metabolism, and increased overall survival of the mice.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Neurosciences
Isabella Orienti, Monica Armida, Gabriella Dobrowolny, Rita Pepponi, Gabriella Sollazzini, Antonella Pezzola, Irene Casola, Antonio Musaro, Patrizia Popoli, Rosa Luisa Potenza
Summary: Fenretinide (FEN) shows potential in preventing and overcoming the toxicity of mutant SOD1 (mSOD1) in amyotrophic lateral sclerosis (ALS). Administration of a new nanomicellar fenretinide formulation (NanoMFen) can ameliorate disease progression in ALS, with its efficacy influenced by gender and showing better effects in female subjects.
Article
Pharmacology & Pharmacy
Nicole Zoratto, Laura Forcina, Roberto Matassa, Luciana Mosca, Giuseppe Familiari, Antonio Musaro, Maurizio Mattei, Tommasina Coviello, Chiara Di Meo, Pietro Matricardi
Summary: The study shows the activity of hyaluronan-cholesterol nanogels as ocular permeation enhancers, enhancing the penetration of drugs in the eye and improving bioavailability, particularly for treating anterior and posterior eye segment diseases.
Article
Cell & Tissue Engineering
Flavia Forconi, Ludovica Apa, Simona Pisu, Irene Casola, Antonio Musaro, Emanuele Rizzuto, Zaccaria Del Prete
Summary: This study proposes a novel technique and parameter to assess the functionality of the neuromuscular junction (NMJ) under isotonic conditions, including fatigue, providing important insights into neuronal signal transmission. This technique can be applied to other animal models to investigate muscle-nerve impairments in other neurodegenerative pathologies.
CELLULAR AND MOLECULAR BIOENGINEERING
(2022)
Review
Cell Biology
Laura Forcina, Claudio Franceschi, Antonio Musaro
Summary: IL-6 is a pleiotropic cytokine with dual and sometimes opposite actions, depending on its intensity and duration of release. It can have anti-inflammatory, antioxidant, and pro-myogenic effects at low levels but can induce pro-inflammatory, pro-oxidant, and pro-fibrotic responses at increased systemic concentrations. The role of IL-6 in aging-related diseases and its involvement in the switch from physiological aging to age-related diseases, such as chronic inflammation and oxidative stress, is not fully understood.
AGEING RESEARCH REVIEWS
(2022)
Article
Chemistry, Analytical
Ludovica Apa, Marianna Cosentino, Flavia Forconi, Antonio Musaro, Emanuele Rizzuto, Zaccaria Del Prete
Summary: This study proposed an innovative sensor for continuous monitoring of engineered muscle tissue's contractility through embedded technology. The sensor utilizes calibrated deflection of a supporting pin and a noninvasive optical method to measure its movement and returns force values. Experimental results showed that the sensor did not affect the maturation of engineered muscle tissue.
Article
Biochemistry & Molecular Biology
Paola Briata, Luca Mastracci, Ettore Zapparoli, Luca Caputo, Elisa Ferracci, Alessandra Silvestri, Anna Garuti, Meriem Hadjer Hamadou, Alberto Inga, Elisa Marcaccini, Federica Grillo, Gabriele Bucci, Pier Lorenzo Puri, Galina Beznoussenko, Alexander Mironov, Fulvio Chiacchiera, Roberto Gherzi
Summary: The long non-coding RNA EPR regulates various biological activities in mouse mammary gland cells and is highly expressed in the intestine. The specific deletion of EPR in the colon of mice results in hyperproliferation of epithelial cells, impaired mucus production and secretion, inflammatory infiltration, and increased vulnerability to colitis and tumor formation. EPR interacts with genes involved in mucus metabolism and its deletion causes changes in chromatin organization.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Biology
Valeria Taliani, Giulia Buonaiuto, Fabio Desideri, Adriano Setti, Tiziana Santini, Silvia Galfre, Leonardo Schirone, Davide Mariani, Giacomo Frati, Valentina Valenti, Sebastiano Sciarretta, Emerald Perlas, Carmine Nicoletti, Antonio Musaro, Monica Ballarino
Summary: Long noncoding RNAs (lncRNAs) play a critical role in heart physiology and disease. We identified a lncRNA called pCharme that is associated with chromatin and is involved in myogenesis and cardiac muscle remodeling in mice. Through various molecular analyses, we found that pCharme is specifically expressed in cardiomyocytes and is important for their maturation and cardiac development. The loss of pCharme leads to delayed cardiomyocyte maturation and morphological alterations in the ventricular myocardium. This study provides valuable insights into a novel lncRNA-mediated regulatory mechanism in heart development and has implications for future theranostic applications targeting the Charme locus.
Proceedings Paper
Engineering, Biomedical
Flavia Forconi, Ludovica Apa, Marianna Cosentino, Antonio Musaro, Emanuele Rizzuto, Zaccaria Del Prete
Summary: This article introduces an innovative device for measuring the contractility of engineered skeletal muscle and evaluates the impact of moving the region of interest (ROI) on the measurement of contractile force. The experimental results demonstrate that the introduced errors by moving the ROI are always lower than 4%, and the influence of errors on the measurement is less significant for larger displacements.
2022 IEEE INTERNATIONAL SYMPOSIUM ON MEDICAL MEASUREMENTS AND APPLICATIONS (MEMEA 2022)
(2022)