Article
Biochemistry & Molecular Biology
Haihua Wu, Jing Liu, Xuhan Zhang, Xueyao Zhang, Jianzhen Zhang, Enbo Ma
Summary: In this study, four alternative splicing transcripts of icCuZnSOD1 in Oxya chinensis were identified, showing differences in heat resistance and antioxidant capacity. These variants exhibited varied expression patterns during developmental stages and in different tissues, with distinct responses to CuCl2 and ZnSO4. The transcripts played roles in defense against CdCl2-induced oxidative stress, with OcicCuZnSOD1a exhibiting the strongest antioxidant capacity.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2021)
Article
Cell Biology
Akansha S. Das, Emily C. Sherry, Robert M. Vaughan, Marian L. Henderson, Jacob Zieba, Katie L. Uhl, Olivia Koehn, Caleb P. Bupp, Surender Rajasekaran, Xiaopeng Li, Surya B. Chhetri, Sahar Nissim, Carol L. Williams, Jeremy W. Prokop
Summary: This study investigates the splicing dynamics of small GTPases and reveals their significant role in gene expression and protein variation. The findings demonstrate the influence of RNAseq isolation and library techniques, genetics, genetic and common variants, and sex differences on splicing within the small GTPase family.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Genetics & Heredity
Manuela Piazzi, Alberto Bavelloni, Sara Salucci, Irene Faenza, William L. L. Blalock
Summary: The emergence of next generation sequencing (NGS) has revolutionized gene expression analysis, allowing for global analysis and identification of novel pathway interactions. However, limitations in publicly available databases and inconsistent deposition of scientific data hinder the construction of a comprehensive picture. This perspective highlights the impact of RNA binding/modifying proteins and RNA processing on NGS technologies in cancer research and emphasizes the importance of fully understanding these limitations.
Article
Biochemistry & Molecular Biology
Elena Lesch, Maximilian T. Schilling, Sarah Brenner, Yingying Yang, Oliver J. Gruss, Volker Knoop, Mareike Schallenberg-Ruedinger
Summary: RNA editing processes differ significantly between animals and plants, with plant PPR proteins playing a key role in plant organelle cytidine-to-uridine editing. It has been discovered that plant PPR editing factors can operate in the nucleo-cytosolic environment of humans and be re-engineered towards new targets.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Biology
Vita Setrajcic Dragos, Vida Stegel, Ana Blatnik, Gasper Klancar, Mateja Krajc, Srdjan Novakovic
Summary: The study validates a new simple and direct method for detecting RNA splicing defects, reclassifying the importance of uncertain variants for patient clinical management, and providing a practical protocol for detecting splicing alterations with deep RNA sequencing.
Article
Biochemistry & Molecular Biology
Elisabeth Mayr, Michael Ablinger, Thomas Lettner, Eva M. Murauer, Christina Guttmann-Gruber, Josefina Pinon Hofbauer, Stefan Hainzl, Manfred Kaiser, Alfred Klausegger, Johann W. Bauer, Ulrich Koller, Verena Wally
Summary: This study demonstrates the potential of endogenous 5' trans-splicing to correct mutations in the COL7A1 gene and modulate the RDEB phenotype, addressing the needs of patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Wei Jiang, Liang Chen
Summary: Alternative splicing is a key mechanism contributing to protein diversity in higher eukaryotes, playing a crucial role in regulating gene expression. Many human diseases and cancers are associated with alternative splicing, highlighting the importance of understanding its mechanisms and regulation for disease research.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2021)
Article
Microbiology
Yichun Xie, Po-Lam Chan, Hoi-Shan Kwan, Jinhui Chang
Summary: In this study, the transcriptional changes and modifications in Coprinopsis cinerea during different developmental processes were investigated using high-throughput sequencing. The results revealed that the transition and modification of the transcriptome played a crucial role in the physiological and morphological alterations of the fungus. Additionally, stage- and tissue-specific alternative splicing and RNA editing were observed and had an impact on fungal development. These findings are important for understanding the molecular mechanisms underlying fungal developmental regulation.
Article
Biochemistry & Molecular Biology
Carmelo Gurnari, Simona Pagliuca, Valeria Visconte
Summary: Alternative RNA splicing is an essential physiological function that plays a crucial role in cellular development. RNA splicing dysfunction has been implicated in the development of several cancers, including myeloid malignancies. Cancer cells exhibit marked gene expression alterations, including different usage of AS isoforms, potentially causing tissue-specific effects and disruptions of downstream pathways.
Article
Biochemistry & Molecular Biology
Xiuming Li, Wenzhen Luo, Wen Zhou, Xiaopeng Yin, Xuemei Wang, Xiujin Li, Chenchen Jiang, Qingqing Zhang, Xiaojing Kang, Aihong Zhang, Yi Zhang, Congming Lu
Summary: The study revealed the importance of PPR proteins in stabilizing RNA transcripts by binding to them and inhibiting RNA endonuclease activity, thereby modulating gene expression levels in chloroplasts.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Oncology
Valentina Frezza, Lidia Chellini, Arianna Del Verme, Maria Paola Paronetto
Summary: Recent evidence has shown that RNA editing, in addition to somatic mutations and alternative splicing changes, plays a significant role in altering genetic information in a dynamic fashion. This form of post-transcriptional RNA modification is closely associated with the development of various human diseases, including cancer, by regulating various cellular processes. Studies on the impact of RNA editing in cancer transformation are gaining increasing interest, particularly in relation to cell proliferation, differentiation, invasion, stemness, and drug resistance.
Review
Endocrinology & Metabolism
Panyisha Wu, Moya Zhang, Nicholas J. G. Webster
Summary: Alternative RNA splicing is an important biological process that has been linked to various clinical syndromes, but its applicability to common diseases is still uncertain. This review focuses on the changes in alternative RNA splicing in fatty liver disease and the role of splicing regulation in disease progression.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Karoline E. Kokot, Jasmin M. Kneuer, David John, Sabine Rebs, Maximilian N. Moebius-Winkler, Stephan Erbe, Marion Mueller, Michael Andritschke, Susanne Gaul, Bilal N. Sheikh, Jan Haas, Holger Thiele, Oliver J. Mueller, Susanne Hille, Florian Leuschner, Stefanie Dimmeler, Katrin Streckfuss-Boemeke, Benjamin Meder, Ulrich Laufs, Jes-Niels Boeckel
Summary: Alterations of RNA editing, especially A-to-I RNA editing, contribute to human diseases, including heart failure. This study demonstrates that reduced RNA editing, primarily caused by Alu elements, is associated with increased circRNA levels and impaired sarcomere regularity in failing human hearts. ADAR2, a key enzyme involved in A-to-I RNA editing, is decreased in failing hearts, leading to elevated circRNA levels. The reduced ADAR2 activity also represses the formation of double-stranded RNA structures and promotes linear mRNA splicing. These findings provide important insights into the role of RNA editing and circRNA formation in human diseases, particularly heart failure.
BASIC RESEARCH IN CARDIOLOGY
(2022)
Article
Medicine, General & Internal
Chung-Ming Huang, Yu-Chia Chen, I-Lu Lai, Hong-Da Chen, Po-Hao Huang, Siang-Jyun Tu, Ya-Ting Lee, Ju-Chen Yen, Chia-Li Lin, Ting-Yuan Liu, Jan-Gowth Chang
Summary: Hyperuricemia and gout are common metabolic disorders with increasing incidence worldwide. This study found that RNA modifications, editing, and splicing play roles in gout development, and the findings may contribute to the development of new diagnostic and therapeutic strategies.
FRONTIERS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Bernadette Liemberger, Johannes Bischof, Michael Ablinger, Stefan Hainzl, Eva M. Murauer, Nina Lackner, Patricia Ebner, Thomas Kocher, Alexander Nystroem, Verena Wally, Elisabeth Mayr, Christina Guttmann-Gruber, Josefina Pinon Hofbauer, Johann W. Bauer, Ulrich Koller
Summary: Mutations in the COL7A1 gene can cause skin problems by affecting type VII collagen (C7) in the basement membrane zone. The researchers used an RNA therapy called spliceosome-mediated RNA trans-splicing (SMaRT) to correct mutations in COL7A1. They successfully corrected mutations in RDEB keratinocytes and RDEB skin equivalents by introducing a repair molecule called RTM-S6m.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Frank Jessen, Steffen Wolfsgruber, Luca Kleineindam, Annika Spottke, Slawek Altenstein, Claudia Bartels, Moritz Berger, Frederic Brosseron, Marcel Daamen, Martin Dichgans, Laura Dobisch, Michael Ewers, Friederike Fenski, Klaus Fliessbach, Silka D. Freiesleben, Wenzel Glanz, Doreen Goerss, Selim Guersel, Daniel Janowitz, Ingo Kilimann, Xenia Kobeleva, Andrea Lohse, Franziska Maier, Coraline Metzger, Matthias Munk, Lukas Preis, Carolin Sanzenbacher, Eike Spruth, Boris Rauchmann, Ruth Vukovich, Renat Yakupov, Anne-Sophie Weyrauch, Gabriel Ziegler, Matthias Schmid, Christoph Laske, Robert Perneczky, Anja Schneider, Jens Wiltfang, Stefan Teipel, Katharina Buerger, Josef Priller, Oliver Peters, Alfredo Ramirez, Henning Boecker, Michael T. Heneka, Michael Wagner, Emrah Duezel
Summary: Research finds that subjective cognitive decline (SCD) in individuals who seek medical help may serve as an initial symptomatic stage 2 of the Alzheimer's disease (AD) continuum. The SCD group shows slightly worse cognition, as well as more subtle functional and behavioral symptoms compared to the control group (CO). It is also discovered that SCD-A+ cases (39.3% of all SCD) exhibit greater hippocampal atrophy, lower cognitive and functional performance, and more behavioral symptoms.
ALZHEIMERS & DEMENTIA
(2023)
Article
Multidisciplinary Sciences
Polina Kameneva, Victoria Melnikova, Maria Eleni Kastriti, Anastasia Kurtova, Emil Kryukov, Aliia Murtazina, Louis Faure, Irina Poverennaya, Artem Artemov, Tatiana S. Kalinina, Nikita Kudryashov, Michael Bader, Jan Skoda, Petr Chlapek, Lucie Curylova, Lukas Sourada, Jakub Neradil, Marketa Tesarova, Massimo Pasqualetti, Patricia Gaspar, Vasily D. Yakushov, Boris Sheftel, Tomas Zikmund, Jozef Kaiser, Kaj Fried, Natalia Alenina, Elena E. Voronezhskaya, Igor Adameyko
Summary: Adrenal glands regulate stress response by releasing catecholamines, and the local release of serotonin during adrenal development could affect the number of adrenal cells, thus impacting neuroblastoma development and stress-related maternal effects on offspring.
NATURE COMMUNICATIONS
(2022)
Review
Physiology
Xiatian Chen, Hua Yu, Zhe Li, Wei Ye, Ziqian Liu, Jinning Gao, Yin Wang, Xin Li, Lei Zhang, Natalia Alenina, Michael Bader, Hongyan Ding, Peifeng Li, Lynn Htet Htet Aung
Summary: The excessive production of free radicals can result in cellular damage, and oxidized RNA may play a fundamental role in the occurrence and development of type 2 diabetes. Further investigation into oxidative RNA damage can enhance our understanding of the pathogenesis of diabetes and potentially lead to new therapeutic strategies.
FRONTIERS IN PHYSIOLOGY
(2022)
Review
Psychiatry
Peter Falkai, Nikolaos Koutsouleris, Katja Bertsch, Mirko Bialas, Elisabeth Binder, Markus Buehner, Alena Buyx, Na Cai, Silvia Cappello, Thomas Ehring, Jochen Gensichen, Johannes Hamann, Alkomiet Hasan, Peter Henningsen, Stefan Leucht, Karl Heinz Moehrmann, Elisabeth Nagelstutz, Frank Padberg, Annette Peters, Lea Pfaeffel, Daniela Reich-Erkelenz, Valentin Riedl, Daniel Rueckert, Andrea Schmitt, Gerd Schulte-Koerne, Elfriede Scheuring, Thomas G. Schulze, Rudolf Starzengruber, Susanne Stier, Fabian J. Theis, Juliane Winkelmann, Wolfgang Wurst, Josef Priller
Summary: The Federal Ministry of Education and Research has issued a call for a nationwide research network on mental disorders, the German Center of Mental Health. This center aims to reduce chronicity and mortality of mental illnesses by deepening understanding, predicting accurately, and providing personalized prevention and therapeutic management.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Cell Biology
Magdalena Zaniewska, Valentina Mosienko, Michael Bader, Natalia Alenina
Summary: Indirect evidence supports a link between disrupted serotonin signaling and addictive behaviors. This study found that central serotonin is an important modulator of drinking behavior in mice, but is not required for the antidepressant effects of ethanol.
Review
Immunology
David A. D. Munro, Kiavash Movahedi, Josef Priller
Summary: This article reviews the relationships between macrophage populations in the central nervous system and focuses on the origins, phenotypes, and functions of cerebrospinal fluid (CSF) macrophages in both health and disease.
SCIENCE IMMUNOLOGY
(2022)
Article
Clinical Neurology
Felix Brandl, Franziska Knolle, Mihai Avram, Claudia Leucht, Igor Yakushev, Josef Priller, Stefan Leucht, Sibylle Ziegler, Klaus Wunderlich, Christian Sorg
Summary: Negative symptoms in patients with schizophrenia are highly prevalent and debilitating. This study found that impaired model-free reward prediction influence is a mechanism for negative symptoms in schizophrenia, and it is associated with reduced associative striatum dopamine and executive dysfunction.
Article
Clinical Neurology
Ornella Billette, Gabriel Ziegler, Merita Aruci, Hartmut Schuetze, Jasmin M. Kizilirmak, Anni Richter, Slawek Altenstein, Claudia Bartels, Frederic Brosseron, Arturo Cardenas-Blanco, Philip Dahmen, Peter Dechent, Laura Dobisch, Klaus Fliessbach, Silka Dawn Freiesleben, Wenzel Glanz, Doreen Goeerss, John Dylan Haynes, Michael T. Heneka, Ingo Kilimann, Okka Kimmich, Luca Kleineidam, Christoph Laske, Andrea Lohse, Ayda Rostamzadeh, Coraline Metzger, Matthias H. Munk, Oliver Peters, Lukas Preis, Josef Priller, Klaus Scheffler, Anja Schneider, Annika Spottke, Eike Jakob Spruth, Alfredo Ramirez, Sandra Roeske, Nina Roy, Stefan Teipel, Michael Wagner, Jens Wiltfang, Steffen Wolfsgruber, Renat Yakupov, Peter Zeidman, Frank Jessen, Bjorn H. Schott, Emrah Duezel, Anne Maass
Summary: This study aimed to assess whether neuroimaging characteristics follow an inverted U-shaped pattern across the clinical spectrum of increased Alzheimer disease (AD) risk. The study found that novelty-related activity in the precuneus showed a nonlinear pattern, with higher activity in individuals with subjective cognitive decline (SCD) and mild cognitive impairment (MCI), but lower activity in patients with AD. The activity differences were not related to AD biomarkers or brain volume. However, hippocampal activity was reduced in patients with AD and related to AD biomarkers.
Article
Clinical Neurology
Ris E. Jansen, Sven J. van der Lee, Duber Gomez-Fonseca, Itziar de Rojas, Maria Carolina Dalmasso, Benjamin Grenier-Boley, Anna Zettergren, Aniket Mishra, Muhammad Ali, Victor Andrade, Celine Bellenguez, Luca Kleineidam, Fahri Kucukali, Yun Ju Sung, Niccolo Tesi, Ellen M. Vromen, Douglas P. Wightman, Daniel Alcolea, Montserrat Alegret, Ignacio Alvarez, Philippe Amouyel, Lavinia Athanasiu, Shahram Bahrami, Henri Bailly, Olivia Belbin, Sverre Bergh, Lars Bertram, Geert Jan Biessels, Kaj Blennow, Rafael Blesa, Merce Boada, Anne Boland, Katharina Buerger, Angel Carracedo, Laura Cervera-Carles, Genevieve Chene, Jurgen A. H. R. Claassen, Stephanie Debette, Jean-Francois Deleuze, Peter Paul de Deyn, Janine Diehl-Schmid, Srdjan Djurovic, Oriol Dols-Icardo, Carole Dufouil, Emmanuelle Duron, Emrah Duezel, Tormod Fladby, Juan Fortea, Lutz Froelich, Pablo Garcia-Gonzalez, Maria Garcia-Martinez, Ina Giegling, Oliver Goldhardt, Johan Gobom, Timo Grimmer, Annakaisa Haapasalo, Harald Hampel, Olivier Hanon, Lucrezia Hausner, Stefanie Heilmann-Heimbach, Seppo Helisalmi, Michael T. Heneka, Isabel Hernandez, Sanna-Kaisa Herukka, Henne Holstege, Jonas Jarholm, Silke Kern, Anne-Brita Knapskog, Anne M. Koivisto, Johannes Kornhuber, Teemu Kuulasmaa, Carmen Lage, Christoph Laske, Ville Leinonen, Piotr Lewczuk, Alberto Lleo, Adolfo Lopez de Munain, Sara Lopez-Garcia, Wolfgang Maier, Marta Marquie, Merel O. Mol, Laura Montrreal, Fermin Moreno, Sonia Moreno-Grau, Gael Nicolas, Markus M. Nothen, Adelina Orellana, Lene Palhaugen, Janne M. Papma, Florence Pasquier, Robert Perneczky, Oliver Peters, Yolande A. L. Pijnenburg, Julius Popp, Danielle Posthuma, Ana Pozueta, Josef Priller, Raquel Puerta, Ines Quintela, Inez Ramakers, Eloy Rodriguez-Rodriguez, Dan Rujescu, Ingvild Saltvedt, Pascual Sanchez-Juan, Philip Scheltens, Norbert Scherbaum, Matthias Schmid, Anja Schneider, Geir Selbaek, Per Selnes, Alexey Shadrin, Ingmar Skoog, Hilkka Soininen, Lluis Tarraga, Stefan Teipel, Betty Tijms, Magda Tsolaki, Christine Van Broeckhoven, Jasper Van Dongen, John C. van Swieten, Rik Vandenberghe, Jean-Sebastien Vidal, Pieter J. Visser, Jonathan Vogelgsang, Margda Waern, Michael Wagner, Jens Wiltfang, Mandy M. J. Wittens, Henrik Zetterberg, Miren Zulaica, Cornelia M. van Duijn, Maria Bjerke, Sebastiaan Engelborghs, Frank Jessen, Charlotte E. Teunissen, Pau Pastor, Mikko Hiltunen, Martin Ingelsson, Ole A. Andreassen, Jordi Clarimon, Kristel Sleegers, Agustin Ruiz, Alfredo Ramirez, Carlos Cruchaga, Jean-Charles Lambert, Wiesje van der Flier
Summary: This study found that levels of A beta 42 and pTau in cerebrospinal fluid are more direct indicators of the pathogenesis of Alzheimer's disease than clinical diagnosis. Through a collaborative effort, novel associations with AD risk loci and multiple biological pathways related to A beta 42 and pTau were identified.
ACTA NEUROPATHOLOGICA
(2022)
Article
Biochemistry & Molecular Biology
Bernadette Nickl, Fatimunnisa Qadri, Michael Bader
Summary: Atherosclerosis is prevalent globally, and the transmembrane protein Gpnmb has been found to be expressed in aortic lesions. By using a double knockout mouse model, researchers observed that deficiency of Gpnmb may lead to increased plaque size in aortic root sections. However, there was no significant difference in plaque area in the whole thoracic and abdominal aorta. Further studies are needed to explore the impact of Gpnmb on plaque stability and to investigate its sex-specific function in atherosclerosis.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Neurosciences
Barbara B. Shih, Sarah M. Brown, Jack Barrington, Lucas Lefevre, Neil A. Mabbott, Josef Priller, Gerard Thompson, Alistair B. Lawrence, Barry W. McColl
Summary: Microglia from pig show a core microglial signature that is conserved across species, but species-specific expression subsets also exist. This study provides valuable insights for using pigs as a large animal model to study the role of microglia during homeostasis and disease.
Article
Clinical Neurology
Oliver Goldhardt, Robert Freiberger, Tobias Dreyer, Luisa Willner, Igor Yakushev, Marion Ortner, Hans Foerstl, Janine Diehl-Schmid, Esther Milz, Josef Priller, Alfredo Ramirez, Viktor Magdolen, Markus Thaler, Timo Grimmer
Summary: This study investigated the association between HSV infection and AD biomarkers. The results suggest that in HSV1-seropositive AD patients, there is a significant predictive effect of AI-IgG(HSV1/2) and Aβ(42)/Aβ(40) ratio on pTau.
ALZHEIMERS & DEMENTIA
(2023)
Review
Physiology
Ludovica Rigat, Koliane Ouk, Achim Kramer, Josef Priller
Summary: Dysfunction of circadian and sleep rhythms is observed in the early stages of neurodegenerative diseases like Alzheimer's disease. It is unclear whether these dysfunctions contribute to the disease's development or are a consequence of it, but there is evidence of a complex bidirectional relationship. Recent studies suggest that circadian clock dysregulation occurs early in the disease and may promote neurodegeneration. Restoring sleep and circadian rhythms in preclinical AD could potentially slow the disease progression.
Article
Multidisciplinary Sciences
Poulomi Banerjee, Arpan R. Mehta, Raja S. Nirujogi, James Cooper, Owen G. James, Jyoti Nanda, James Longden, Karen Burr, Karina McDade, Andrea Salzinger, Evdokia Paza, Judith Newton, David Story, Suvankar Pal, Colin Smith, Dario R. Alessi, Bhuvaneish T. Selvaraj, Josef Priller, Siddharthan Chandran
Summary: Using hiPSC-MG, researchers found that reduced C9ORF72 protein is associated with impaired phagocytosis and an exaggerated immune response. Their findings also revealed dysregulation in myeloid cells as a contributor to neurodegeneration in ALS/FTD, and pharmacological activation of autophagy can ameliorate cell-autonomous functional deficits and motor neuron death in coculture.
Article
Biochemistry & Molecular Biology
Priyavathi Sureshkumar, Robson Augusto Souza dos Santos, Natalia Alenina, Stefan Mergler, Michael Bader
Summary: The G protein-coupled receptor MAS is the receptor for the endogenous ligand Angiotensin (Ang)-(1-7). This paper demonstrates the importance of MAS signaling in developing novel therapeutics for cardiovascular diseases. Ang-(1-7) induces calcium influx in MAS-transfected HEK293 cells, which is dependent on plasma membrane Ca2+ channels, phospholipase C, and protein kinase C. The study also reveals that MAS utilizes non-selective transient receptor potential channels (TRPs) for calcium entry.