Article
Cell Biology
Erliang Guo, Xionghui Mao, Xueying Wang, Lunhua Guo, Changming An, Cong Zhang, Kaibin Song, Guohui Wang, Chunbin Duan, Xiwei Zhang, Xianguang Yang, Zhennan Yuan, Ji Sun, Xiaomei Li, Weiwei Yang, Hongxue Meng, Susheng Miao
Summary: High expression of ANLN is associated with poor prognosis in HNSCC patients. The two major splice variants of ANLN, ANLN-201 and ANLN-210, are highly expressed in HNSCC tissues and cell lines. ANLN promotes tumor growth and invasion in HNSCC by interacting with c-Myc and hnRNPC in different mechanisms.
CELL DEATH & DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Lennart Saenger, Julian Bender, Katja Rostowski, Ralph Golbik, Hauke Lilie, Carla Schmidt, Sven-Erik Behrens, Susann Friedrich
Summary: Our study reveals that AUF1 can directly promote the binding of miRNA to its target site, thus modulating gene expression; the RNA remodelling activities of AUF1 are isoform-specific, with isoforms containing the YGG motif acting as competent RNA chaperones.
Editorial Material
Multidisciplinary Sciences
Ronald Cutler, Jan Vijg
Summary: The study has shown that radiation-damaged paternal DNA causes embryos of the second generation of nematode worms, but not the first, to die. The proposed mechanisms explain why this effect is not observed in humans.
Article
Biochemistry & Molecular Biology
Monikaben Padariya, Robin Fahraeus, Ted Hupp, Umesh Kalathiya
Summary: The study reveals the binding specificity of UPF1 with different mRNA motifs and the impact of insertion on UPF1 catalytic activity. Experimental results demonstrate two structural conformations of UPF1 and enhance understanding of the NMD pathway.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Editorial Material
Multidisciplinary Sciences
Maggie P. Lauria Sneideman, Victoria H. Meller
Summary: A protein that upregulates gene expression of the X chromosome has been discovered in male mosquitoes, which is crucial for equalizing gene expression between sexes in organisms with X and Y chromosomes.
Article
Biochemistry & Molecular Biology
Asaf Shilo, Gianluca Pegoraro, Tom Misteli
Summary: Researchers have developed a high-throughput imaging assay, HiFENS, based on the hybridization chain reaction, to screen for cellular factors that regulate alternative splicing of endogenous genes. They identified potential candidate upstream splicing regulators of the FGFR2 gene through an RNAi screen.
NUCLEIC ACIDS RESEARCH
(2022)
Editorial Material
Multidisciplinary Sciences
Debora S. Marks, Stephen W. Michnick
Summary: An integrated technique is introduced to quantify and disentangle the effects of gene mutations on protein traits, allowing assessments of mutational effects on protein biophysics.
Article
Genetics & Heredity
Noor Ul Ain, Marta Baroncelli, Alice Costantini, Tayyaba Ishaq, Fulya Taylan, Ola Nilsson, Outi Makitie, Sadaf Naz
Summary: This study identified a novel severe skeletal dysplasia associated with a biallelic variant in GNPNAT1. The data suggest that GNPNAT1 is important for growth plate chondrogenesis.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Cell Biology
Kambiz Hassanzadeh, Castrese Morrone, Keivan Akhtari, Ellen Gerhardt, Ludovica Zaccagnini, Tiago Fleming Outeiro, Marco Feligioni
Summary: This study aims to investigate the SUMOylation of alpha-Syn isoforms and its impact on cell death and alpha-Syn aggregation. The results suggest that boosting SUMOylation can prevent alpha-Syn aggregation and promote autophagy, and that alpha-Syn 140 and alpha-Syn 126 undergo SUMOylation while alpha-Syn 112 and 98 do not. Overexpression of the non-SUMOylated isoforms leads to increased toxicity and alpha-Syn aggregation. These findings highlight the importance of SUMOylation in modulating alpha-Syn aggregation and the behavior of alpha-Syn isoforms.
MECHANISMS OF AGEING AND DEVELOPMENT
(2023)
Review
Oncology
Sunkyung Choi, Namjoon Cho, Eun-Mi Kim, Kee K. Kim
Summary: Alternative pre-mRNA splicing plays a critical role in generating multiple mRNA and increasing protein diversity. Specific splicing isoforms have been found to be important in cellular processes, particularly in regulating cell numbers. Abnormal expression of splicing isoforms and factors, as well as disruptions in splicing caused by genetic mutations, are implicated in cancer development and progression. Alternative splicing has potential as a therapeutic target for cancer.
CANCER CELL INTERNATIONAL
(2023)
Article
Microbiology
Allison N. Pearson, Mitchell G. Thompson, Liam D. Kirkpatrick, Cindy Ho, Khanh M. Vuu, Lucas M. Waldburger, Jay D. Keasling, Patrick M. Shih
Summary: The pGinger suite of expression plasmids consists of 43 plasmids that allow precise constitutive and inducible gene expression in various Gram-negative bacteria. These plasmids include 16 synthetic constitutive promoters upstream of red fluorescent protein (RFP), with a wide range of hosts and antibiotic resistance markers. The family also contains seven inducible systems controlling RFP expression, with variants that utilize different origins and selection markers. Relevant data have been collected in Escherichia coli and Pseudomonas putida, and all pGinger vectors are available through the JBEI Public Registry.
MICROBIOLOGY SPECTRUM
(2023)
Article
Medicine, General & Internal
Mara Aparecida Maricato Poma, Howard Lopes Ribeiro Junior, Eugenio Araujo Costa, Carlos Roberto Koscky Paier, Lais Lacerda Brasil, Luina Benevides Lima, Livia Maria Soares Nobre, Tayales Tavares Leite, Roberto Cesar Pereira Lima-Junior, Ana Rosa Pinto Quidute, Maria Elisabete Amaral de Moraes, Manoel Odorico de Moraes Filho
Summary: This study investigated the effect of gene polymorphisms on the pharmacokinetics of propofol in adult patients undergoing intravenous sedation. The results showed that gene polymorphisms were associated with propofol dose and effect concentration. Weight, age, surgery time, systolic blood pressure, and gene polymorphisms were predictive factors for propofol dose.
POSTGRADUATE MEDICAL JOURNAL
(2023)
Article
Multidisciplinary Sciences
Yang Pan, John W. Phillips, Beatrice D. Zhang, Miyako Noguchi, Eric Kutschera, Jami McLaughlin, Pavlo A. Nesterenko, Zhiyuan Mao, Nathanael J. Bangayan, Robert Wang, Wendy Tran, Harry T. Yang, Yuanyuan Wang, Yang Xu, Matthew B. Obusan, Donghui Cheng, Alex H. Lee, Kathryn E. Kadash-Edmondson, Ameya Champhekar, Cristina Puig-Saus, Antoni Ribas, Robert M. Prins, Christopher S. Seet, Gay M. Crooks, Owen N. Witte, Yi Xing
Summary: This study describes a computational platform called IRIS that can discover tumor antigens derived from alternative splicing, providing potential targets for TCR and CAR-T immunotherapies. Through the analysis of transcriptomics and immuno-peptidomics data, the study demonstrates that the predicted targets by IRIS can bind with HLA molecules. The study illustrates the contribution of alternative splicing to the repertoire of tumor antigens and demonstrates the utility of IRIS in discovering AS-derived antigens and expanding cancer immunotherapies.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Review
Biochemistry & Molecular Biology
Sunkyung Choi, Namjoon Cho, Kee K. Kim
Summary: Alternative splicing plays a significant role in signal transduction pathways, enhancing or attenuating signal transmission and regulating various pathways. Aberrant splicing regulation is associated with disease onset and progression, including cancer. The understanding of splicing abnormalities in diseases can lead to new treatment approaches.
EXPERIMENTAL AND MOLECULAR MEDICINE
(2023)
Article
Multidisciplinary Sciences
Alisha N. Jones, Carina Grass, Isabel Meininger, Arie Geerlof, Melina Klostermann, Kathi Zarnack, Daniel Krappmann, Michael Sattler
Summary: This study shows that alternative splicing of MALT1 depends on RNA structural elements that sequester the splice sites of the alternatively spliced exon7, and is regulated by competitive binding of RBPs hnRNP U and hnRNP L.
Editorial Material
Biochemistry & Molecular Biology
Natasa Skoko, Marco Baralle, Francisco E. Baralle
Article
Neurosciences
L. Cragnaz, R. Klima, L. de Conti, G. Romano, F. Feiguin, E. Buratti, M. Baralle, F. E. Baralle
Article
Chemistry, Medicinal
Daniele Zampieri, Maria Grazia Mamolo, Luciano Vio, Maurizio Romano, Natasa Skoko, Marco Baralle, Valentina Pau, Alessandro De Logu
BIOORGANIC & MEDICINAL CHEMISTRY LETTERS
(2016)
Article
Multidisciplinary Sciences
Sulena Polez, Domenico Origi, Sotir Zahariev, Corrado Guarnaccia, Sergio G. Tisminetzky, Natasa Skoko, Marco Baralle
Review
Cell Biology
Laura De Conti, Marco Baralle, Emanuele Buratti
WILEY INTERDISCIPLINARY REVIEWS-RNA
(2017)
Article
Neurosciences
Miguel Mompean, Marco Baralle, Emanuele Buratti, Douglas V. Laurents
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2016)
Review
Pharmacology & Pharmacy
Laura De Conti, Barbara Borroni, Marco Baralle
EXPERT OPINION ON DRUG DISCOVERY
(2017)
Review
Biology
Marco Baralle, Francisco Ernesto Baralle
Article
Multidisciplinary Sciences
S. Prpar Mihevc, Marco Baralle, Emanuele Buratti, Boris Rogelj
SCIENTIFIC REPORTS
(2016)
Article
Cell Biology
Ibrahim Boussaad, Carolin D. Obermaier, Zoe Hanss, Dheeraj R. Bobbili, Silvia Bolognin, Enrico Glaab, Katarzyna Wolynska, Nicole Weisschuh, Laura De Conti, Caroline May, Florian Giesert, Dajana Grossmann, Annika Lambert, Susanne Kirchen, Maria Biryukov, Lena F. Burbulla, Francois Massart, Jill Bohler, Gerald Cruciani, Benjamin Schmid, Annerose Kurz-Drexler, Patrick May, Stefano Duga, Christine Klein, Jens C. Schwamborn, Katrin Marcus, Dirk Woitalla, Daniela M. Vogt Weisenhorn, Wolfgang Wurst, Marco Baralle, Dimitri Krainc, Thomas Gasser, Bernd Wissinger, Rejko Krueger
SCIENCE TRANSLATIONAL MEDICINE
(2020)
Article
Multidisciplinary Sciences
Marco Baralle, Maurizio Romano
Summary: This study investigated the expression of TDP-43 and its transcriptional regulation. It was found that the activity of the promoter varied in different cells, and two SNPs in the promoter region of ALS patients did not significantly affect transcription levels. Additionally, the presence of the 5' UTR sequence and intron-1 splicing positively impacted TDP-43 expression.
SCIENTIFIC REPORTS
(2021)
Review
Gastroenterology & Hepatology
Marco Baralle, Francisco E. Baralle
Summary: Alternative splicing plays a critical role in liver development and pathologies, influencing the progression of diseases like nonalcoholic fatty liver disease, hepatocellular carcinoma, and alcoholic liver disease. Understanding the molecular mechanisms behind the production of alternatively spliced isoforms is essential for potential therapeutic strategies and prognostic marker identification. Further research is needed to explore the interplay between protein expression levels and alternative splicing changes in liver health and disease.
ANNALS OF HEPATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Ziva Svab, Luca Braga, Corrado Guarnaccia, Ivan Labik, Jeremias Herzog, Marco Baralle, Mauro Giacca, Natasa Skoko
Summary: In this study, several human miRNAs were identified to increase specific and overall production of Erythropoietin and Etanercept in CHO cells. Overexpression of miR-574-3p was found to improve productivity by up to 2-fold, with p300 identified as a main target. The findings highlight the importance of genomic sequences in pri-miRNA processing, offering a cost-effective strategy for efficient miRNA engineering in CHO cells.
Article
Neurosciences
Lucia Cragnaz, Greta Spinelli, Laura De Conti, Emilie A. Bureau, Janet Brownlees, Fabian Feiguin, Valentina Romano, Natasa Skoko, Raffaella Klima, Catherine A. Kettleborough, Francisco E. Baralle, Marco Baralle
Summary: This study identified a potential therapeutic pathway for clearing TDP-43 aggregates and restoring functionality, using a cellular model for high-throughput screening. The importance of a two-stage, in vitro and in vivo model system for cross-checking small molecule treatments in TDP-43 proteinopathies was emphasized.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Oncology
Federica Monaco, Laura De Conti, Simone Vodret, Nunzia Zanotta, Manola Comar, Sandra Manzotti, Corrado Rubini, Laura Graciotti, Gianluca Fulgenzi, Massimo Bovenzi, Marco Baralle, Marco Tomasetti, Lory Santarelli
Summary: This study proposes a novel miRNA-based therapy approach to target malignant pleural mesothelioma (MPM) by increasing stemness and inhibiting cell proliferation. It is found that by inhibiting the release of exosomes, miR-126 can accumulate intracellularly and induce cell death and tumor growth arrest. Autophagy and necroptosis are involved in these processes, suggesting the potential of this therapy against cancer stem cells (CSCs).
TRANSLATIONAL ONCOLOGY
(2022)
