Article
Dermatology
Shun Miyazaki, Hajime Nakano, Maki Mizuno, Saeko Ozaki, Toshihiko Hoashi, Naoko Kanda, Hidehisa Saeki
Summary: This study reports the mutations in the ATP2C1 gene in four Japanese HHD patients, including two novel mutations. The clinical characteristics of the patients varied in disease severity and treatment response.
JOURNAL OF DERMATOLOGY
(2022)
Article
Medical Laboratory Technology
Mengya Zhang, Yanhong Lin, Xiao Zhang, Fenghua Lan, Jian Zeng
Summary: This study found that mutations c.683T > A and c.844C > T in the SMN1 gene can trigger spinal muscular atrophy (SMA) and activate the nonsense-mediated mRNA decay (NMD) pathway. Therefore, the role of NMD should be considered when studying the pathogenesis of these mutations.
CLINICA CHIMICA ACTA
(2022)
Article
Medicine, Research & Experimental
Federica Corrao, Maria Grazia Zizzo, Marco Tutone, Raffaella Melfi, Ignazio Fiduccia, Pietro Salvatore Carollo, Aldo Di Leonardo, Gaetano Caldara, Riccardo Perriera, Andrea Pace, Beatrice Belmonte, Selene Sammataro, Ivana Pibiri, Laura Lentini
Summary: This study investigated the acute toxicological effects of three Translational Readthrough Inducing Drugs (TRIDs) on mice and found that these drugs showed good tolerability without causing significant adverse effects in the mice.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Biochemistry & Molecular Biology
Riccardo Perriera, Emanuele Vitale, Ivana Pibiri, Pietro Salvatore Carollo, Davide Ricci, Federica Corrao, Ignazio Fiduccia, Raffaella Melfi, Maria Grazia Zizzo, Marco Tutone, Andrea Pace, Laura Lentini
Summary: Nonsense mutations cause genetic diseases, but translational readthrough-inducing drugs (TRIDs) offer a promising approach to correct these defects. The new TRIDs NV848, NV914, and NV930 have been shown to restore protein synthesis without affecting natural termination codons (NTCs).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Sandra Luna, Leire Torices, Janire Mingo, Laura Amo, Isabel Rodriguez-Escudero, Pablo Ruiz-Ibarlucea, Asier Erramuzpe, Jesus M. Cortes, Maria I. Tejada, Maria Molina, Caroline E. Nunes-Xavier, Jose I. Lopez, Victor J. Cid, Rafael Pulido
Summary: The PTEN tumor suppressor gene is frequently mutated in tumors and in cancer predisposition patients or those with macrocephaly associated with autism. A study has analyzed PTEN nonsense mutations and set standards for the potential restoration of full-length PTEN proteins from mutated PTEN genes through translational readthrough. The findings indicate that prevalent pathogenic PTEN mutations can be functionally restored through readthrough-inducing compounds, offering potential for precision interventions in specific patient groups.
Article
Plant Sciences
Zhigang Li, Jun Yang, Junbo Peng, Zhihua Cheng, Xinsen Liu, Ziding Zhang, Vijai Bhadauria, Wensheng Zhao, You-Liang Peng
Summary: This study identified 3,374 novel genes through RNA-Seq analysis, with the majority likely transcribing lncRNAs, most of which were located in intergenic regions. Additionally, 2,358 genes were found to undergo alternative splicing events. The results suggest that lncRNA transcripts and alternative splicing events are two important mechanisms for regulating gene expression in the rice blast fungus.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Chemistry, Multidisciplinary
Ming-Hao Liu, Wan-Tong Yu, Xiao-Yun Yang, Yueying Li, Yan Zhang, Chun-Yang Zhang
Summary: We have developed a simple and rapid method for the sensitive detection of O-6-methylguanine DNA methyltransferase (MGMT) activity. This method has ultrahigh sensitivity and good specificity, and can detect MGMT activity at the single-cell level. It can also be used for screening MGMT inhibitors and discriminating MGMT in different cancer cells.
CHEMICAL COMMUNICATIONS
(2022)
Article
Chemistry, Analytical
Huiwen Wang, Jiahan Rui, Wenyue Xiao, Yiyang Peng, Zoujun Peng, Ping Qiu
Summary: In this study, a sensing platform based on ultrathin g-C3N4 nanosheets was developed for the rapid quantitative detection of glyphosate. The method utilized enzyme-free ratiometric fluorescence and colorimetric dual read-out assay, providing high sensitivity and selectivity. This simple and easy-to-use method shows satisfactory results for the detection of glyphosate in food safety and the environment.
MICROCHEMICAL JOURNAL
(2022)
Article
Chemistry, Multidisciplinary
Lukas Biesen, Thomas J. J. Mueller
Summary: Etherified aroyl-S,N-ketene acetals can be easily synthesized via a unique one-pot addition-elimination-Williamson etherification sequence. While the chromophore remains the same, derivatives exhibit significant color tuning in solid-state emission and AIE characteristics, with a hydroxy-methyl derivative serving as an easily accessible mono-molecular aggregation-induced white-light emitter.
Article
Chemistry, Physical
Mingyan Jia, Lulin Peng, Maohua Yang, Huangzhao Wei, Mei Zhang, Yu Wang
Summary: This study demonstrates the unique fluorescent ratiometricity of conventional boron-nitrogen co-doped carbon dots (BNCDs) in detecting Cr (VI), providing a new way for rapid determination of analytes. The versatile sensing capability of BNCDs highlights the great potential of carbon-based materials for developing ratiometric sensing platforms.
Article
Biochemistry & Molecular Biology
Yuan Lou, Sarah A. Woodson
Summary: This study shows that self-cleavage of the glmS ribozyme riboswitch can occur during transcription before the ribozyme is fully synthesized. Co-transcriptional folding of the RNA allows the ribozyme catalytic core to react without the downstream stability domain. Slow sequential folding promotes the formation of the native core structure. Ribozyme self-cleavage at an early stage of transcription is important for the regulation of glmS in B. subtilis.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Chemistry, Applied
Azam Bagheri Pebdeni, Maryam Mousavizadegan, Morteza Hosseini
Summary: The proposed dual detection sensor combines aptamer and antibiotic for effective recognition and quantification of Staphylococcus aureus. The sensor showed high specificity in detecting S. aureus using CuNCs, with potential applications for monitoring pathogenic bacteria.
Article
Chemistry, Analytical
Genping Meng, Caizhong Zhang, Peiyao Du, Shihao Sun, Xuan Zhang, Baodui Wang, Xiaoquan Lu
Summary: In this study, a dual-channel luminescent signal readout nanoprobe o-CDs@methyl red was used for rapid, sensitive, and visual detection of biogenic amines. The method showed high sensitivity and fast response, and was successfully applied to real food samples.
SENSORS AND ACTUATORS B-CHEMICAL
(2022)
Article
Biophysics
Hao Wang, Bianbian Zhao, Yufei Ye, Xiaoyu Qi, Yuting Zhang, Xiaole Xia, Xiaoli Wang, Nandi Zhou
Summary: In this study, a fluorescence and surface-enhanced Raman scattering dual-mode aptasensor was developed for sensitive and rapid detection of Ochratoxin A (OTA). The aptasensor demonstrated low detection limits in both FL and SERS modes, as well as high specificity and good interferent resistance. It showed great potential for OTA detection in coffee and wine samples.
BIOSENSORS & BIOELECTRONICS
(2022)
Article
Engineering, Electrical & Electronic
Gongxin Li, Mingao Du, Jia Yang, Xiaoli Luan, Lianqing Liu, Fei Liu
Summary: A novel method for label-free rapid detection of invasive S. cerevisiae infections was proposed, combining optically induced dielectrophoresis (ODEP)-based micromanipulation and graphene transistor, enabling quick and high-purity collection of S. cerevisiae. The graphene transistor accurately detected the properties of S. cerevisiae and distinguished different concentrations of the organism. This work represents a step forward in integrated isolation and detection of S. cerevisiae, with potential applications in microbiological research and detection of fungal infections.
IEEE SENSORS JOURNAL
(2021)
Article
Biochemistry & Molecular Biology
Carolina Chieffo, Emiliano Altamura, Layth Ben Trad, Guillaume Pilet, Ofelia Maniti, Thierry Granjon, Saida Mebarek, Peter Strazewski, Michele Fiore
Summary: Two highly fluorescent xanthene-cyanamide lysosomal trackers emitting at similar wavelengths were synthesized from fluorescein and rhodol methyl esters using microwave-assisted reactions. The on and off forms of these trackers were extensively characterized using various analytical techniques. Unlike rhodamine-type dyes, the ring-opened forms of fluorescein- and rhodol-cyanamides exhibited stability in protic solvents under circumneutral and basic pH conditions. Confocal imaging of osteoblastic cells using an orthogonal combination of fluorescent dyes allowed for the differentiation of various organelles and nuclei.
Article
Cell Biology
Matteo Zurlo, Francesco Nicoli, Davide Proietto, Beatrice Dallan, Cristina Zuccato, Lucia Carmela Cosenza, Jessica Gasparello, Chiara Papi, Elisabetta d'Aversa, Monica Borgatti, Chiara Scapoli, Alessia Finotti, Roberto Gambari
Summary: Inhibitors of mTOR, such as Sirolimus, can enhance vaccine responses in the elderly. Testing Sirolimus and other geroprotective drugs might be a key strategy to improve the overall health resilience of aged populations. This study analyzed the activity of CD4(+) and CD8(+) T cells in beta-Thalassemia patients treated with Sirolimus and found that it positively impacted the biological activity and number of memory T cells.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2023)
Article
Multidisciplinary Sciences
Valentino Bezzerri, Valentina Gentili, Martina Api, Alessia Finotti, Chiara Papi, Anna Tamanini, Christian Boni, Elena Baldisseri, Debora Olioso, Martina Duca, Erika Tedesco, Sara Leo, Monica Borgatti, Sonia Volpi, Paolo Pinton, Giulio Cabrini, Roberto Gambari, Francesco Blasi, Giuseppe Lippi, Alessandro Rimessi, Roberta Rizzo, Marco Cipolli
Summary: As an inherited disorder characterized by severe pulmonary disease, cystic fibrosis could be considered a comorbidity for coronavirus disease 2019. However, current clinical evidence suggests that cystic fibrosis may actually protect against SARS-CoV-2 infection. The expression of SARS-CoV-2 receptors in primary airway epithelial cells is regulated by the CFTR channel, and dysfunctional CFTR channels in cystic fibrosis cells result in reduced viral entry and replication.
NATURE COMMUNICATIONS
(2023)
Review
Biochemistry & Molecular Biology
Carla M. P. Ribeiro, Matthew G. Higgs, Marianne S. Muhlebach, Matthew C. Wolfgang, Monica Borgatti, Ilaria Lampronti, Giulio Cabrini
Summary: Cystic fibrosis transmembrane conductance regulator (CFTR) modulators have provided a significant therapeutic advantage for people with cystic fibrosis (pwCF). However, these modulators face limitations in reducing chronic lung bacterial infection and inflammation, which are the main causes of respiratory damage and insufficiency in pwCF, especially in adults. This article revisits the debated issues of pulmonary bacterial infection and inflammatory processes in pwCF, highlighting the mechanisms favoring bacterial infection, the interplay between Pseudomonas aeruginosa and Staphylococcus aureus, and the cross-talk among bacteria, bronchial epithelial cells, and host immune defenses. The recent findings on the effect of CFTR modulators on bacterial infection and inflammation are also presented to identify potential therapeutic targets for respiratory pathology in pwCF.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Matteo Zurlo, Jessica Gasparello, Lucia Carmela Cosenza, Giulia Breveglieri, Chiara Papi, Cristina Zuccato, Roberto Gambari, Alessia Finotti
Summary: The objective of this study was to develop an experimental model system for studying the reduction of toxic alpha-globin aggregates in beta-thalassemia. K562 cellular clones were produced that stably produced high levels of alpha-globin protein and showed increased apoptosis and autophagy. This model system can be used to screen pharmacological agents that activate autophagy and reduce alpha-globin accumulation, as well as for new therapeutic approaches targeting the reduction of alpha-globin gene expression.
Review
Biotechnology & Applied Microbiology
Paola Albanese, Fabio Mavelli, Emiliano Altamura
Summary: In this work, we review the latest strategies for assembling energetically autonomous artificial cells that can convert light energy into chemical energy and support internal metabolic pathways. The artificial cells are inspired by photosynthetic machineries found in nature and are either directly reconstituted in the membrane of artificial compartments or encapsulated in organelle-like structures. We report recent examples based on liposome technology and multi-compartment architectures, highlighting their importance in the field of artificial cell synthesis research, as well as discussing some limitations and future perspectives of the bottom-up approach.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Chiara Papi, Jessica Gasparello, Matteo Zurlo, Lucia Carmela Cosenza, Roberto Gambari, Alessia Finotti
Summary: This study aims to investigate the effects of molecules mimicking the activity of pre-miR-145-5p, pre-miR-335-5p, and pre-miR-101-3p on Calu-3 cells and discuss their potential applications in pre-clinical studies. The results show that treatment with agomiR-145-5p effectively inhibits CFTR gene expression and protein production. Therefore, agomiR pre-miR-145-5p should be considered as a therapeutic option for inhibiting CFTR gene expression in various pathological conditions.
Article
Chemistry, Multidisciplinary
Carolina Chieffo, Emiliano Altamura, Guillaume Pilet, Saida Mebarek, Peter Strazewski, Michele Fiore
Summary: A series of spirolactam compounds based on rhodol, fluorescein, and rhodamines, which contain electron donor amines, were successfully synthesized. By redesigning the synthesis of the rhodol scaffold using 2-(2,4-dihydroxybenzoyl)benzoic acid, a rhodol methyl ester was obtained in good yields (25-30%). Non-cytotoxic rhodamine-based compounds were prepared using thermal and microwave-assisted synthesis (40-78%) and tested as high affinity ATP chemo-sensors.
Article
Pharmacology & Pharmacy
Jessica Gasparello, Chiara Papi, Matteo Zurlo, Stefano Volpi, Roberto Gambari, Roberto Corradini, Alessandro Casnati, Francesco Sansone, Alessia Finotti
Summary: One of the most promising approaches for gene regulation is the microRNA therapeutic method, which focuses on controlling the activity of microRNAs (miRNAs) that are dysregulated in diseases such as cancer. This can be achieved by inhibiting overexpressed miRNAs or restoring downregulated miRNAs using miRNA-mimics. The development of efficient and targeted vectors for delivering these molecules is a crucial topic in pharmacological modulation of miRNAs.
Article
Oncology
Jessica Gasparello, Chiara Papi, Matteo Zurlo, Laura Gambari, Alex Manicardi, Andrea Rozzi, Matteo Ferrarini, Roberto Corradini, Roberto Gambari, Alessia Finotti
Summary: Starting from a list of nine dysregulated miRNAs in early-stage CRC patients, the study verified the therapeutic effects of anti-miRNA PNAs targeting the most relevant up-regulated miRNAs. PNAs down-regulated these target miRNAs and induced apoptosis in CRC cellular models. Combining anti-miRNA PNAs with pro-apoptotic compounds like sulforaphane resulted in high levels of apoptosis induction.
Article
Biochemistry & Molecular Biology
Cristina Zuccato, Lucia Carmela Cosenza, Matteo Zurlo, Giulia Breveglieri, Nicoletta Bianchi, Ilaria Lampronti, Jessica Gasparello, Chiara Scapoli, Monica Borgatti, Alessia Finotti, Roberto Gambari
Summary: The human homologue of mouse Ly-1 antibody reactive clone protein (LYAR) is a potential regulator of gamma-globin gene transcription. The LYAR rs368698783 (G > A) polymorphism is present in beta-thalassemia patients and reduces the LYAR binding efficiency to the A gamma-globin gene. This study aimed to stratify beta-thalassemia patients based on the rs368698783 (G > A) polymorphism and investigate their erythroid precursor cells' response to selected HbF inducers in vitro.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Hematology
Maria Rita Gamberini, Cristina Zuccato, Matteo Zurlo, Lucia Carmela Cosenza, Alessia Finotti, Roberto Gambari
Summary: In this study, a representative clinical case showed that sirolimus monotherapy in fi-thalassemia patients induced an increase in fetal hemoglobin but did not prevent the production of anti-SARS-CoV-2 IgG. Further studies are needed to confirm the safety and potential positive effects of sirolimus on the humoral response to anti-SARS-CoV-2 vaccination in fi-thalassemia patients. This study may also be of interest to a broader population receiving sirolimus treatment for various pathologies.
HEMATOLOGY REPORTS
(2023)
