Article
Genetics & Heredity
Delisa E. Clay, Donald T. Fox
Summary: Genome damage is a common threat to all organisms, and DNA damage responses (DDRs) play a crucial role in initiating cell cycle arrest, repair, and cell death. While many DDR components are conserved across different organisms, there are also adaptations to specific needs. Research on model genetic organisms has greatly advanced our understanding of DDR mechanisms and how they are influenced by the cell cycle stage. Future studies expanding beyond traditional model organisms will further enhance our knowledge of genome protection mechanisms.
Article
Oncology
Lifang Pan, Qiong Wu, Yuqing Wang, Shenglin Ma, Shirong Zhang
Summary: This study aimed to establish and explore the biological characteristics of radioresistant LUSC cells. Radioresistant cells showed decreased radiosensitivity, enhanced DNA damage repair ability, and regulated double strands break through the ATM/CHK2 and DNA-PKcs/Ku70 pathways. Proteomics analysis revealed that differential genes in radioresistant cells were mainly enriched in biological pathways such as cell migration and ECM-receptor interaction.
Article
Genetics & Heredity
Isabelle Jeru, Amira Nabil, Gehad El-Makkawy, Olivier Lascols, Corinne Vigouroux, Ebtesam Abdalla
Summary: Pathogenic variants in the LMNA gene lead to a group of genetic disorders known as laminopathies, including mandibuloacral dysplasia type A (MADA). This study reports three Egyptian patients with MADA, one with typical phenotype and two with severe manifestations from early life. Combining observations with existing literature data provides a clearer understanding of phenotypic variability in this disease, suggesting the presence of a founder effect in Egypt and strengthening genotype-phenotype correlations.
Article
Oncology
Wenfeng Gou, Xiaojun Yu, Shaohua Wu, Hongying Wu, Huajie Chang, Leyuan Chen, Huiqiang Wei, Changfen Bi, Hongxin Ning, Yingliang Wu, Wenbin Hou, Daiying Zuo, Yiliang Li
Summary: This study investigated the impact of AND-1 on the radiosensitivity of non-small cell lung cancer (NSCLC) and found that AND-1 inhibition significantly increased the radiosensitivity of NSCLC cells, likely by regulating the cell cycle and enhancing DNA damage.
Article
Oncology
Senthil Renganathan, Subrata Pramanik, Rajasekaran Ekambaram, Arne Kutzner, Pok-Son Kim, Klaus Heese
Summary: Key factors contributing to tumorigenesis were analyzed through molecular modeling, with withaferin B identified as a lead molecule capable of disrupting the FAM72A-UNG2 interaction, potentially opening up new therapeutic avenues for cancer treatment.
Review
Cell Biology
Howard J. Worman, Susan Michaelis
Summary: As human longevity increases, understanding the molecular mechanisms that drive aging becomes critical. Premature aging disorders, known as progeroid syndromes, can provide insights into physiological aging. This review examines the hypothesis that impaired processing of prelamin A contributes to physiological aging.
Article
Biochemistry & Molecular Biology
Aneliya Ivanova, Aleksandar Atemin, Sonya Uzunova, Georgi Danovski, Radoslav Aleksandrov, Stoyno Stoynov, Marina Nedelcheva-Veleva
Summary: Cells have evolved mechanisms to regulate DNA replication and cell cycles in response to DNA damage and replication stress. The absence of Dia2 prolongs the cell cycle, increases cell size, and activates the S-phase checkpoint.
Article
Genetics & Heredity
Erich Schaflinger, Jasmin Blatterer, Aiman Saeed Khan, Lukas Kaufmann, Lisa Auinger, Benjamin Tatrai, Sumra Wajid Abbasi, Muhammad Zeeshan Ali, Ansar Ahmad Abbasi, Ali Al Kaissi, Erwin Petek, Klaus Wagner, Muzammil Ahmad Khan, Christian Windpassinger
Summary: This study identified a novel mutation associated with MADB, which may rescue the function of the mutant protein by creating a new translation initiation site, explaining the relatively mild clinical outcome in the studied individuals.
Article
Biology
Karina Gutierrez, Werner G. Glanzner, Mariana P. de Macedo, Vitor B. Rissi, Naomi Dicks, Rodrigo C. Bohrer, Hernan Baldassarre, Luis B. Agellon, Vilceu Bordignon
Summary: This study evaluated the efficiency of CRISPR/Cas9 technology in fertilized embryos and found that early-stage injection and inhibition of the homologous recombination repair pathway can improve gene editing efficiency and embryo survival rate.
Article
Multidisciplinary Sciences
Hongwei Yao, Joselynn Wallace, Abigail L. Peterson, Alejandro Scaffa, Salu Rizal, Katy Hegarty, Hajime Maeda, Jason L. Chang, Nathalie Oulhen, Jill A. Kreiling, Kelsey E. Huntington, Monique E. De Paepe, Guilherme Barbosa, Phyllis A. Dennery
Summary: Senescence contributes to both age-related diseases and stress-related injury, but it is also crucial for organismal development. This study reveals that lung senescence occurs at birth and decreases during the saccular stage in mice. Hyperoxia exposure during the saccular stage induces senescence in specific cell types, leading to lung injury. The findings highlight the importance of programmed senescence in postnatal lung development and offer potential therapeutic strategies for mitigating neonatal hyperoxic lung injury by targeting senescence.
NATURE COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Erich Schaflinger, Jasmin Blatterer, Aiman Saeed Khan, Lukas Kaufmann, Lisa Auinger, Benjamin Tatrai, Sumra Wajid Abbasi, Muhammad Zeeshan Ali, Ansar Ahmad Abbasi, Ali Al Kaissi, Erwin Petek, Klaus Wagner, Muzammil Ahmad Khan, Christian Windpassinger
Summary: A novel N-terminal homozygous frameshift mutation (c.28_29insA) in ZMPSTE24 gene was identified in a consanguineous family segregating with MADB, possibly serving as a rescue mechanism in translation initiation.
Editorial Material
Plant Sciences
Moira Rodriguez, Ana Martinez-Hottovy, Alan C. Christensen
Summary: Plant mtDNA can be repaired through homologous recombination, and mitochondrial interactions may influence genetic behavior.
JOURNAL OF EXPERIMENTAL BOTANY
(2022)
Editorial Material
Microbiology
Jacob L. Steenwyk
Summary: Cell cycle checkpoints and DNA repair pathways are crucial for maintaining genome integrity, but recent studies have revealed evolutionary diversity in eukaryotic DNA damage responses, with some fungi showing reduced activation of key kinases and downregulation of genome maintenance genes in response to DNA damage.
Article
Oncology
Romain Tropee, Barbara de la Pena Avalos, Madeline Gough, Cameron Snell, Pascal H. G. Duijf, Eloise Dray
Summary: Chromatin remodeling factor SMARCD3 plays a crucial role in regulating cell proliferation and DNA damage repair. Lower SMARCD3 expression results in decreased cell proliferation rates, cell cycle progression failure, and accumulation of DNA damage, which may contribute to poor survival outcomes in hormone-positive breast cancer patients. SMARCD3 could serve as a potential tumor suppressor and a prognostic biomarker for breast cancer.
BREAST CANCER RESEARCH AND TREATMENT
(2021)
Article
Biochemistry & Molecular Biology
Deon Ploessl, Yuxin Zhao, Mingfeng Cao, Saptarshi Ghosh, Carmen Lopez, Maryam Sayadi, Siva Chudalayandi, Andrew Severin, Lei Huang, Marissa Gustafson, Zengyi Shao
Summary: By developing a new CRISPR platform, the limitations caused by NHEJ repair have been successfully addressed, improving the accuracy of genome editing technology. While preserving NHEJ, it is also possible to effectively optimize microbial factories for the production of target compounds.
NATURE CHEMICAL BIOLOGY
(2022)
Editorial Material
Genetics & Heredity
Giuseppe Novelli, Michela Biancolella
Article
Cell Biology
Paola Spitalieri, Federica Centofanti, Michela Murdocca, Maria Giovanna Scioli, Andrea Latini, Silvia Di Cesare, Gennaro Citro, Antonio Rossi, Augusto Orlandi, Shane Miersch, Sachdev S. Sidhu, Pier Paolo Pandolfi, Annalisa Botta, Federica Sangiuolo, Giuseppe Novelli
Summary: In this study, a new tetravalent neutralizing antibody and a synthetic peptide were tested on human cells for the first time, showing potential as immunotherapeutic candidates for COVID-19. The findings indicate that both approaches significantly reduce viral entry and affect the expression of genes related to innate immunity and inflammatory response.
Article
Biochemistry & Molecular Biology
Jonathan M. Labriola, Shane Miersch, Gang Chen, Chao Chen, Alevtina Pavlenco, Reza Saberianfar, Francesca Caccuri, Alberto Zani, Nitin Sharma, Annie Feng, Daisy W. Leung, Arnaldo Caruso, Giuseppe Novelli, Gaya K. Amarasinghe, Sachdev S. Sidhu
Summary: A method using phage-displayed peptide libraries isolated short peptides that bind to the SARS-CoV-2 S-protein domains, and fusing them with nAbs can enhance neutralizing potency. This approach counters VoC and has potential clinical applications.
ACS CHEMICAL BIOLOGY
(2022)
Article
Cell Biology
Andrea Latini, Chiara Vancheri, Francesca Amati, Elena Morini, Sandro Grelli, Matteucci Claudia, Petrone Vita, Vito Luigi Colona, Michela Murdocca, Massimo Andreoni, Vincenzo Malagnino, Massimiliano Raponi, Dario Cocciadiferro, Antonio Novelli, Paola Borgiani, Giuseppe Novelli
Summary: This study reveals a low expression of hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients and demonstrates its functional role in regulating ACE2 and DPP4 levels, suggesting its potential as a therapeutic target for COVID-19.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2022)
Editorial Material
Immunology
Alexandre Bolze, Trine H. Mogensen, Shen-Ying Zhang, Laurent Abel, Evangelos Andreakos, Lisa M. Arkin, Alessandro Borghesi, Petter Brodin, David Hagin, Giuseppe Novelli, Satoshi Okada, Jonny Peter, Laurent Renia, Karine Severe, Pierre Tiberghien, Donald C. Vinh, Elizabeth T. Cirulli, Jean-Laurent Casanova, Elena W. Y. Hsieh
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Clinical Neurology
Marina Trivisano, Angela De Dominicis, Alessia Micalizzi, Alessandro Ferretti, Maria Lisa Dentici, Alessandra Terracciano, Costanza Calabrese, Federico Vigevano, Giuseppe Novelli, Antonio Novelli, Nicola Specchio
Summary: This study reports a patient with an epileptic phenotype carrying a novel missense mutation in the MED13 gene. The mutation is associated with generalized, drug-resistant epilepsy with myoclonic-atonic seizures. The study also reveals that the mutation is linked to other neurodevelopmental disorders such as intellectual disability and autism spectrum disorder.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2022)
Article
Biology
Massimiliano Alfano, Luca De Antoni, Federica Centofanti, Virginia Veronica Visconti, Simone Maestri, Chiara Degli Esposti, Roberto Massa, Maria Rosaria D'Apice, Giuseppe Novelli, Massimo Delledonne, Annalisa Botta, Marzia Rossato
Summary: The study characterized CNBP repeat expansions in DM2 patients using PCR-free Cas9-mediated nanopore sequencing, enabling precise assessment of repeat length and somatic mosaicism, and promising to improve molecular diagnosis of DM2.
Article
Biochemistry & Molecular Biology
Chiara Vancheri, Elena Morini, Francesca Romana Prandi, Francesco Barilla, Francesco Romeo, Giuseppe Novelli, Francesca Amati
Summary: Coronary heart disease (CHD) is a leading cause of disability and death globally, and its early diagnosis is challenging. A pilot study on peripheral blood cells revealed potential biomarkers, including hsa-miR-200c-3p, for the diagnosis and clinical progression of CHD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calo, Giuseppe Novelli, Ruggiero Mango, Federica Sangiuolo
Summary: Variants in desmoplakin gene (DSP) are usually associated with arrhythmogenic cardiomyopathy (ACM) or dilated cardiomyopathy (DCM) inherited in an autosomal dominant manner. This study analyzed a cohort of 18 probands with heterozygous DSP variants and identified 16 pathogenic or likely pathogenic variants. Patients generally presented as asymptomatic or mildly symptomatic, and cardiac magnetic resonance imaging revealed left ventricular myocardial fibrosis. These findings confirm that DSP-related cardiomyopathy is a distinct clinical entity characterized by a high arrhythmic burden, variable degrees of left ventricular enlargement, and myocarditis-like episodes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Cell Biology
Giuseppe Novelli, Paola Spitalieri, Michela Murdocca, Eleonora Centanini, Federica Sangiuolo
Summary: In recent years, hiPSC-derived organoids have been extensively studied and used as in vitro models, especially for difficult-to-obtain organs and tissues. Various diseases can be accurately modeled and studied using these organoids. Patient-derived organoids (PDOs) can be used to predict individual drug responses for personalized medicine. Additionally, tissue engineering and 3D printing techniques could be used to replace or regenerate damaged tissue in the future.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Chemistry, Medicinal
Federica Centofanti, Alessandro Buono, Michele Verboni, Carlo Tomino, Simone Lucarini, Andrea Duranti, Pier Paolo Pandolfi, Giuseppe Novelli
Summary: In this article, the biosynthetic processes and synthetic procedures of indole-3-carbinol (I3C) and its derivatives are analyzed, as well as their activities in antitumor and antiviral effects and the mechanisms of action. The potential social impact of enhancing these molecules in the prevention and treatment of respiratory tract disorders and cancer is also discussed.
Article
Genetics & Heredity
Ludovico Graziani, Giacomo Cinnirella, Valentina Ferradini, Chiara Conte, Federica Lo Bascio, Mario Bengala, Federica Sangiuolo, Giuseppe Novelli
Summary: Baraitser-Winter syndrome (BRWS) is a rare autosomal dominant disease caused by variants in ACTB (BRWS1) or ACTG1 (BRWS2) genes. It is characterized by developmental delay, craniofacial dysmorphisms, and various other abnormalities. We report a case of a 4-year-old girl with psychomotor delay, microcephaly, dysmorphic features, hearing loss, cardiac hypertrophy, and abdominal swelling. Exome sequencing identified a de novo variant in ACTG1 gene, expanding the spectrum of ACTG1-related disorders.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Cell Biology
Michela Murdocca, Paola Spitalieri, Maria Rosaria D'Apice, Giuseppe Novelli, Federica Sangiuolo
Summary: Aging is a complex biological process closely linked to cancer and inflammation, which are the subjects of extensive research. The accumulation of DNA damage interferes with cellular function and increases susceptibility to aging conditions.
MECHANISMS OF AGEING AND DEVELOPMENT
(2023)
Article
Immunology
Paul Bastard, Sara Vazquez, Jamin Liu, Matthew T. Laurie, Chung Yu Wang, Adrian Gervais, Tom Le Voyer, Lucy Bizien, Colin Zamecnik, Quentin Philippot, Jeremie Rosain, Emilie Catherinot, Andrew Willmore, Anthea M. Mitchell, Rebecca Bair, Pierre Garcon, Heather Kenney, Arnaud Fekkar, Maria Salagianni, Garyphallia Poulakou, Eleni Siouti, Sabina Sahanic, Ivan Tancevski, Gunter Weiss, Laurenz Nagl, Jeremy Manry, Sotirija Duvlis, Daniel Arroyo-Sanchez, Estela Paz Artal, Luis Rubio, Cristiano Perani, Michela Bezzi, Alessandra Sottini, Virginia Quaresima, Lucie Roussel, Donald C. Vinh, Luis Felipe Reyes, Margaux Garzaro, Nevin Hatipoglu, David Boutboul, Yacine Tandjaoui-Lambiotte, Alessandro Borghesi, Anna Aliberti, Irene Cassaniti, Fabienne Venet, Guillaume Monneret, Rabih Halwani, Narjes Saheb Sharif-Askari, Jeffrey Danielson, Sonia Burrel, Caroline Morbieu, Yurii Stepanovskyy, Anastasia Bondarenko, Alla Volokha, Oksana Boyarchuk, Alenka Gagro, Mathilde Neuville, Benedicte Neven, Sevgi Keles, Romain Hernu, Antonin Bal, Antonio Novelli, Giuseppe Novelli, Kahina Saker, Oana Ailioaie, Arnau Antoli, Eric Jeziorski, Gemma Rocamora-Blanch, Carla Teixeira, Clarisse Delaunay, Marine Lhuillier, Paul Le Turnier, Yu Zhang, Matthieu Mahevas, Qiang Pan-Hammarstrom, Hassan Abolhassani, Thierry Bompoil, Karim Dorgham, French Covid Study Group, Guy Gorochov, Cedric Laouenan, Carlos Rodriguez-Gallego, Lisa F. P. Ng, Laurent Renia, Aurora Pujol, Alexandre Belot, Francois Raffi, Luis M. Allende, Javier Martinez-Picado, Tayfun Ozcelik, Sevgi Keles, Luisa Imberti, Luigi D. Notarangelo, Jesus Troya, Xavier Solanich, Shen-Ying Zhang, Anne Pue, Michael R. Wilson, Sophie Trouillet-Assants, Laurent Abe, Emmanuelle Jouanguy, Chun Jimmie Ye, Aurelie Cobat, Leslie M. Thompson, Evangelos Andreakos, Qian Zhang, Mark S. Anderson, Jean-Laurent Casanova, Joseph L. DeRisi
Summary: The presence of autoantibodies neutralizing type I interferons may contribute to breakthrough cases of hypoxemic COVID-19 pneumonia in vaccinated individuals. This highlights the vulnerability of this particular population.
SCIENCE IMMUNOLOGY
(2022)
Letter
Genetics & Heredity
Juergen K. V. Reichardt, George P. Patrinos, Poh San Lai, Giuseppe Novelli