Article
Multidisciplinary Sciences
Hyojin Kim, Yaoyao Fu, Ho Jeong Hong, Seong-Gyu Lee, Dong Sun Lee, Ho Min Kim
Summary: Insulin-like growth factors (IGFs) play various roles in embryonic and postnatal growth and differentiation. This study reports the atomic structure of the ternary complex (IGF1/IGF-binding protein3/acid labile subunit) and its assembly/disassembly mechanism for IGF bioavailability, providing insights into human diseases associated with IGF1 and IGFALS gene mutations.
NATURE COMMUNICATIONS
(2022)
Review
Biochemistry & Molecular Biology
Yuhan Zhu, Lin Chen, Binyu Song, Zhiwei Cui, Guo Chen, Zhou Yu, Baoqiang Song
Summary: The article describes the expression changes and fibrosis-promoting effects of insulin-like growth factor 2 (IGF-2) in different tissues during fibrosis process.
Article
Biochemistry & Molecular Biology
Wenqi Qin, Ning Wang, Qi Yin, Huiling Li, Ai-Min Wu, Genji Qin
Summary: Increases in recorded high temperatures are causing changes in plant growth and decreasing crop productivity. A study has identified ABT1/WRKY14 as a critical repressor of plant thermomorphogenesis and proposed that ABT1/WRKY14, TCP5, and PIF4 form a regulatory module to fine-tune PIF4 activity and temperature-dependent plant growth.
Article
Neurosciences
Yuqing Yan, Shichao Gao, Shivani Avasthi, Yuhan Zhao, Jianghong Ye, Yuanxiang Tao, Wei Wang, Xiongwei Zhu, Fu Du, James M. O'Donnell, Ying Xu
Summary: This study suggests that inhibition of PDE2 can rescue A beta o-induced neuronal damage and memory impairment. It also indicates that PDE2 inhibition plays a role in antioxidant defense and neuronal remodeling through regulation of cAMP/cGMP signaling.
Article
Cell Biology
Mareike Czuppa, Ashutosh Dhingra, Qihui Zhou, Carina Schludi, Laura Koenig, Elisabeth Scharf, Daniel Farny, Anupriya Dalmia, Joachim Taeger, Melissa Castillo-Lizardo, Eszter Katona, Kohji Mori, Tina Aumer, Florian Schelter, Markus Mueller, Thomas Carell, Tuomo Kalliokoski, Josef Messinger, Patrizia Rizzu, Peter Heutink, Dieter Edbauer
Summary: By screening a library of approved drugs and known bioactive compounds, researchers have identified nucleoside analogs, such as decitabine, that can reduce the expression of RNA foci and DPR proteins associated with C9orf72 repeat expansion. These findings suggest that nucleoside analogs could be a promising class of compounds for the therapeutic development of C9orf72 repeat expansion-related disorders.
Review
Biochemistry & Molecular Biology
S. Chandhini, Bushra Trumboo, Seena Jose, Tincy Varghese, M. Rajesh, V. J. Rejish Kumar
Summary: The insulin-like growth factor signalling system plays a crucial role in the growth and development of fishes and shellfishes, serving as important biomarkers for assessing growth and nutritional status in aquaculture.
FISH PHYSIOLOGY AND BIOCHEMISTRY
(2021)
Article
Biology
Kornelia Szebenyi, Inigo Barrio-Hernandez, George M. Gibbons, Luca Biasetti, Claire Troakes, Pedro Beltrao, Andras Lakatos
Summary: Interrogation of amyotrophic lateral sclerosis (ALS)-linked GWAS gene networks, astrocyte-based multi-omics datasets and cellular models identifies kinesin motor protein KIF5A as a modifier of astrocyte process integrity and potential target in ALS.
COMMUNICATIONS BIOLOGY
(2023)
Article
Endocrinology & Metabolism
Andreas Hoeflich, Brit Fitzner, Christina Walz, Michael Hecker, Armin Tuchscherer, Julia Brenmoehl, Uwe Klaus Zettl
Summary: The study investigated the IGF system in MS patients during TCA treatment, finding that IGF-I levels increased in serum while fragmentation of IGFBP-2 and IGFBP-3 decreased in CSF. The reduction in IGFBP fragmentation and lower ratio of IGF-II to intact IGFBPs indicate a regulation of IGF-II bioactivity in CSF during repeated intrathecal TCA administration in MS patients.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Multidisciplinary Sciences
Holly K. Gildea, Phillip A. Frankino, Sarah U. Tronnes, Corinne L. Pender, Jenni Durieux, Julian G. Dishart, Hyun Ok Choi, Tayla D. Hunter, Shannon S. Cheung, Ashley E. Frakes, Edward Sukarto, Kevin Wickham, Andrew Dillin
Summary: Aging organisms lose the ability to induce stress responses, making them vulnerable to protein toxicity and tissue damage. Neurons and glial cells can signal to induce protective stress responses in specific organelles. Understanding the role of glial cells in immune function and lifespan extension can provide valuable insights.
Article
Endocrinology & Metabolism
Irene Caruso, Francesco Giorgino
Summary: Despite advances in diabetes care, patients with type 2 diabetes still have higher morbidity and mortality. Atherosclerotic cardiovascular disease and chronic kidney disease are the main causes and they sustain each other. SGLT-2 inhibitors have shown remarkable results in preventing heart failure and renal disease progression, but their benefits for atherosclerotic cardiovascular events are still unclear.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2022)
Article
Multidisciplinary Sciences
Fabian Stahl, Ina Schmitt, Philip Denner, Laura de Boni, Ullrich Wuellner, Peter Breuer
Summary: The study suggests that simvastatin may be a potential treatment for SCA3 and increases ATXN3 protein levels by directly binding to the ATXN3 promoter.
SCIENTIFIC REPORTS
(2023)
Article
Critical Care Medicine
Joshua Keefe, Chen Yao, Shih-Jen Hwang, Paul Courchesne, Gha Young Lee, Josee Dupuis, Joseph P. Mizgerd, George O'Connor, George R. Washko, Michael H. Cho, Edwin K. Silverman, Daniel Levy
Summary: This study demonstrated a potential causal relationship between plasma soluble receptor for advanced glycation end-products (sRAGE) levels and lung function traits through integrated genomic analysis, providing insight into the therapeutic implications of targeting the AGER/sRAGE axis for inflammation-related lung diseases.
Article
Biochemistry & Molecular Biology
Noelia Carballeda-Sangiao, Susana Chamorro, Sonia de Pascual-Teresa
Summary: The study found that a freeze-dried fruit mixture rich in anthocyanins has the potential for nutraceutical use in preventing neurodegeneration associated with age or environmental factors.
Article
Public, Environmental & Occupational Health
Haosu Tang, Congyi Zheng, Xue Cao, Su Wang, Linfeng Zhang, Xin Wang, Zuo Chen, Yuxin Song, Chen Chen, Yixin Tian, Wenping Jiang, Gang Huang, Zengwu Wang
Summary: This study finds that blue sky may serve as an independent environmental protective factor against cardiovascular diseases (CVD).
FRONTIERS IN PUBLIC HEALTH
(2022)
Article
Microbiology
Xuezhang Tian, Yaru Zhou, Shaowei Wang, Ming Gao, Yanlin Xia, Yangyang Li, Yunhong Zhong, Wenhao Xu, Lei Bai, Bishi Fu, Yu Zhou, Hye-Ra Lee, Hongyu Deng, Ke Lan, Pinghui Feng, Junjie Zhang
Summary: In this study, SMCHD1 was identified as a cell-intrinsic restriction factor that controls the replication of KSHV and a wide range of herpesviruses by targeting the origins of viral DNA replication. SMCHD1 deficiency facilitated the replication of a murine herpesvirus in vivo. This study helps us to better understand intrinsic antiviral immunity and could contribute to the development of new therapies for herpesvirus infection and related diseases.
Correction
Genetics & Heredity
Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J. F. A. van Vugt, Paul J. Hop, Ramona A. J. Zwamborn, Niek de Klein, Harm-Jan Westra, Olivier B. Bakker, Patrick Deelen, Gemma Shireby, Eilis Hannon, Matthieu Moisse, Denis Baird, Restuadi Restuadi, Egor Dolzhenko, Annelot M. Dekker, Klara Gawor, Henk-Jan Westeneng, Gijs H. P. Tazelaar, Kristel R. van Eijk, Maarten Kooyman, Ross P. Byrne, Mark Doherty, Mark Heverin, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Nicola Ticozzi, Johnathan Cooper-Knock, Bradley N. Smith, Marta Gromicho, Siddharthan Chandran, Suvankar Pal, Karen E. Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Michael Sendtner, Thomas Meyer, Nazli Basak, Anneke J. van der Kooi, Antonia Ratti, Isabella Fogh, Cinzia Gellera, Giuseppe Lauria, Stefania Corti, Cristina Cereda, Daisy Sproviero, Sandra D'Alfonso, Gianni Soraru, Gabriele Siciliano, Massimiliano Filosto, Alessandro Padovani, Adriano Chio, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Maurizio Grassano, Ettore Beghi, Elisabetta Pupillo, Giancarlo Logroscino, Beatrice Nefussy, Alma Osmanovic, Angelica Nordin, Yossef Lerner, Michal Zabari, Marc Gotkine, Robert H. Baloh, Shaughn Bell, Patrick Vourc'h, Philippe Corcia, Philippe Couratier, Stephanie Millecamps, Vincent Meininger, Francois Salachas, Jesus S. Mora Pardina, Abdelilah Assialioui, Ricardo Rojas-Garcia, Patrick A. Dion, Jay P. Ross, Albert C. Ludolph, Jochen H. Weishaupt, David Brenner, Axel Freischmidt, Gilbert Bensimon, Alexis Brice, Alexandra Durr, Christine A. M. Payan, Safa Saker-Delye, Nicholas W. Wood, Simon Topp, Rosa Rademakers, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Stephan Ripke, Alice Braun, Julia Kraft, David C. Whiteman, Catherine M. Olsen, Andre G. Uitterlinden, Albert Hofman, Marcella Rietschel, Sven Cichon, Markus M. Nothen, Philippe Amouyel, Giancarlo Comi, Nilo Riva, Christian Lunetta, Francesca Gerardi, Maria Sofia Cotelli, Fabrizio Rinaldi, Luca Chiveri, Maria Cristina Guaita, Patrizia Perrone, Mauro Ceroni, Luca Diamanti, Carlo Ferrarese, Lucio Tremolizzo, Maria Luisa Delodovici, Giorgio Bono, Umberto Manera, Rosario Vasta, Alessandro Bombaci, Federico Casale, Giuseppe Fuda, Paolina Salamone, Barbara Iazzolino, Laura Peotta, Paolo Cugnasco, Giovanni De Marco, Maria Claudia Torrieri, Francesca Palumbo, Salvatore Gallone, Marco Barberis, Luca Sbaiz, Salvatore Gentile, Alessandro Mauro, Letizia Mazzini, Fabiola De Marchi, Lucia Corrado, Sandra D'Alfonso, Antonio Bertolotto, Maurizio Gionco, Daniela Leotta, Enrico Odddenino, Daniele Imperiale, Roberto Cavallo, Pietro Pignatta, Marco De Mattei, Claudio Geda, Diego Maria Papurello, Graziano Gusmaroli, Cristoforo Comi, Carmelo Labate, Luigi Ruiz, Delfina Ferrandi, Eugenia Rota, Marco Aguggia, Nicoletta Di Vito, Piero Meineri, Paolo Ghiglione, Nicola Launaro, Michele Dotta, Alessia Di Sapio, Guido Giardini, Cinzia Tiloca, Silvia Peverelli, Franco Taroni, Viviana Pensato, Barbara Castellotti, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Lucia Corrado, Letizia Mazzini, Flavia Raggi, Costanza Simoncini, Annalisa Lo Gerfo, Maurizio Inghilleri, Alessandra Ferlini, Isabella L. Simone, Bruno Passarella, Vito Guerra, Stefano Zoccolella, Cecilia Nozzoli, Ciro Mundi, Maurizio Leone, Michele Zarrelli, Filippo Tamma, Francesco Valluzzi, Gianluigi Calabrese, Giovanni Boero, Augusto Rini, Bryan J. Traynor, Andrew B. Singleton, Miguel Mitne Neto, Ruben J. Cauchi, Roel A. Ophoff, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M. van Deerlin, Julian Grosskreutz, Annekathrin Roediger, Nayana Gaur, Alexander Joerk, Tabea Barthel, Erik Theele, Benjamin Ilse, Beatrice Stubendorff, Otto W. Witte, Robert Steinbach, Christian A. Huebner, Caroline Graff, Lev Brylev, Vera Fominykh, Vera Demeshonok, Anastasia Ataulina, Boris Rogelj, Blaz Koritnik, Janez Zidar, Metka Ravnik-Glavac, Damjan Glavac, Zorica Stevic, Vivian Drory, Monica Povedano, Ian P. Blair, Matthew C. Kiernan, Beben Benyamin, Robert D. Henderson, Sarah Furlong, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Shyuan T. Ngo, Garth A. Nicholson, Roger Pamphlett, Dominic B. Rowe, Frederik J. Steyn, Kelly L. Williams, Karen A. Mather, Perminder S. Sachdev, Anjali K. Henders, Leanne Wallace, Mamede de Carvalho, Susana Pinto, Susanne Petri, Markus Weber, Guy A. Rouleau, Vincenzo Silani, Charles J. Curtis, Gerome Breen, Jonathan D. Glass, Robert H. Brown, John E. Landers, Christopher E. Shaw, Peter M. Andersen, Ewout J. N. Groen, Michael A. van Es, R. Jeroen Pasterkamp, Dongsheng Fan, Fleur C. Garton, Allan F. McRae, George Davey Smith, Tom R. Gaunt, Michael A. Eberle, Jonathan Mill, Russell L. McLaughlin, Orla Hardiman, Kevin P. Kenna, Naomi R. Wray, Ellen Tsai, Heiko Runz, Lude Franke, Ammar Al-Chalabi, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink
Review
Clinical Neurology
Arianna Manini, Elena Abati, Andi Nuredini, Stefania Corti, Giacomo Pietro Comi
Summary: Duchenne muscular dystrophy is an infancy-onset neuromuscular disorder with limited treatment options. A promising strategy is AAV-mediated gene therapy, but the issue of transgene persistence is critical.
FRONTIERS IN NEUROLOGY
(2022)
Review
Biochemistry & Molecular Biology
Matilde Contardo, Roberta De Gioia, Delia Gagliardi, Giacomo Pietro Comi, Linda Ottoboni, Monica Nizzardo, Stefania Corti
Summary: In vivo cell reprogramming offers a promising approach to generate new neurons in the adult mammalian nervous system, with the successful conversion of glial cells into neurons through the repression of a single gene Ptbp1. However, concerns about the reliability of this strategy, particularly regarding the nature of converted neurons in vivo, necessitate further investigation with stringent lineage tracing methods.
Article
Biochemistry & Molecular Biology
Mafalda Rizzuti, Valentina Melzi, Delia Gagliardi, Davide Resnati, Megi Meneri, Laura Dioni, Pegah Masrori, Nicole Hersmus, Koen Poesen, Martina Locatelli, Fabio Biella, Rosamaria Silipigni, Valentina Bollati, Nereo Bresolin, Giacomo Pietro Comi, Philip Van Damme, Monica Nizzardo, Stefania Corti
Summary: This study revealed the dysregulation of microRNA (miRNA) in amyotrophic lateral sclerosis (ALS), suggesting that miRNA analysis could be a promising tool for understanding the molecular mechanisms underlying this disease.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Cell Biology
Simona Zanotti, Francesca Magri, Francesca Poggetti, Michela Ripolone, Daniele Velardo, Francesco Fortunato, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco
Summary: This study provides a sensitive tool for semi-quantification of residual amount of sarcoglycans in patients affected by sarcoglycanopathies. The method is based on immunofluorescence staining, image acquisition, and software elaboration, allowing for fast and resource-saving detection of low residual sarcoglycan expression. The proposed method proves useful in disease prognosis evaluation and monitoring of therapeutic interventions.
EUROPEAN JOURNAL OF HISTOCHEMISTRY
(2022)
Article
Biochemistry & Molecular Biology
Francesca Magri, Simona Zanotti, Sabrina Salani, Francesco Fortunato, Patrizia Ciscato, Simonetta Gerevini, Lorenzo Maggi, Monica Sciacco, Maurizio Moggio, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi
Summary: Limb-girdle muscular dystrophies (LGMD) are characterized by clinically and genetically diverse presentations of predominantly proximal muscle weakness. Beta-sarcoglycanopathy (LGMDR4) is caused by biallelic defects in the SGCB gene and features pediatric onset with limb-girdle involvement, often accompanied by respiratory and heart dysfunction. In this study, a patient with high creatine kinase levels and cramps after strenuous exercise was diagnosed with beta-sarcoglycanopathy based on instrumental investigations. NGS panel sequencing revealed two variants in the SGCB gene, one of which (c.243+1548T>C) promoted the inclusion of a pseudoexon in the SGCB transcript. Interestingly, the same genotype was identified in a previously reported LGMDR4 patient. By delivering morpholino oligomers targeting the pseudoexon in patient-specific induced pluripotent stem cells, the researchers observed correction of splicing and partial restoration of protein levels. These findings highlight the importance of analyzing the c.243+1548T>C variant in suspected LGMDR4 patients, especially those with monoallelic SGCB variants, and demonstrate the efficacy of antisense technology in correcting splicing defects resulting from molecular defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Eleonora Colombo, Alberto Doretti, Francesco Scheveger, Alessio Maranzano, Giulia Pata, Delia Gagliardi, Megi Meneri, Stefano Messina, Federico Verde, Claudia Morelli, Stefania Corti, Luca Maderna, Vincenzo Silani, Nicola Ticozzi
Summary: This study aimed to analyze the correlation between electrophysiological parameters and clinical characteristics of ALS. The results showed a significant association between AD and CD scores and disease progression, survival, and functional disability in ALS patients.
JOURNAL OF NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Gianluca Costamagna, Sara Bonato, Stefania Corti, Megi Meneri
Summary: Cerebrovascular diseases are a leading cause of disability, morbidity, and death worldwide. Recent advances in endovascular procedures have allowed for a thorough analysis of thrombus composition and stroke mechanisms using single- or multi-omic approaches. These techniques hold the potential to better understand stroke-related thrombogenesis, select prevention strategies, and discover new biomarkers and therapeutic targets.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D'Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga
Summary: Collagen VI is a heterotrimeric protein that maintains cell integrity by forming a microfilamentous network connecting the cytoskeleton and extracellular matrix. Mutations in COL6A1, COL6A2, and COL6A3 genes can result in severe muscular dystrophy or mild myopathy. In this study, we analyzed the clinical and genetic data of 15 COL6-mutated patients, revealing a diverse range of phenotypes and the identification of novel pathogenic variants. The use of histological, immunological, and ultrastructural techniques confirmed the COL6 distribution variability and extracellular matrix disorganization, highlighting the importance of a multidisciplinary approach in the diagnosis of COL6 patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Correction
Clinical Neurology
Eleonora Colombo, Alberto Doretti, Francesco Scheveger, Alessio Maranzano, Giulia Pata, Delia Gagliardi, Megi Meneri, Stefano Messina, Federico Verde, Claudia Morelli, Stefania Corti, Luca Maderna, Vincenzo Silani, Nicola Ticozzi
JOURNAL OF NEUROLOGY
(2023)
Article
Geriatrics & Gerontology
Nicole Comfort, Meethila Gade, Madeleine Strait, Samantha J. Merwin, Daphne Antoniou, Chiara Parodi, Lina Marcinczyk, Lea Jean-Francois, Tessa R. Bloomquist, Anna Memou, Hardy J. Rideout, Stefania Corti, Shingo Kariya, Diane B. Re
Summary: This study conducted a longitudinal transcriptomic analysis on aging mice, and found that the central nervous system may play a crucial role in skeletal muscle aging. These findings provide new insights into the mechanisms of muscle aging.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Clinical Neurology
Martina Ricci, Gianpaolo Cicala, Anna Capasso, Giorgia Coratti, Stefania Fiori, Costanza Cutrona, Adele D'Amico, Valeria A. Sansone, Claudio Bruno, Sonia Messina, Tiziana Mongini, Michela Coccia, Gabriele Siciliano, Elena Pegoraro, Riccardo Masson, Massimiliano Filosto, Giacomo P. Comi, Stefania Corti, Dario Ronchi, Lorenzo Maggi, Maria G. D'Angelo, Veria Vacchiano, Chiara Ticci, Lucia Ruggiero, Lorenzo Verriello, Federica S. Ricci, Angela L. Berardinelli, Maria Antonietta Maioli, Matteo Garibaldi, Vincenzo Nigro, Stefano C. Previtali, Maria Carmela Pera, Eduardo Tizzano, Marika Pane, Francesco Danilo Tiziano, Eugenio Mercuri
Summary: This study provides an overview of the clinical phenotypes associated with 4 SMN2 copies. The results show variability in untreated patients, ranging from type II to type IV, with an overall reduction in functional scores as age increases. The risk of losing ambulation is significantly associated with SMA type, and women have a lower risk of losing ambulation compared to men.
ANNALS OF NEUROLOGY
(2023)
Review
Neurosciences
Santiago Mora, Ilary Allodi
Summary: Action selection is a crucial aspect of cognition that guides behavior, from motor patterns to executive functions. It relies on complex neural circuits and connective loops within the brain and spinal cord. ALS and FTD, both neurodegenerative disorders, share disease etiology and pathophysiology, leading to the impairment of motor commands and executive functions. New evidence based on studies performed on animal models, post-mortem tissue, and patient derived stem cells supports the pathological loss of connectivity and selective impairment of neural circuits in ALS and FTD.
FRONTIERS IN NEURAL CIRCUITS
(2023)
Article
Clinical Neurology
Eleonora Colombo, Francesco Gentile, Alessio Maranzano, Alberto Doretti, Federico Verde, Marco Olivero, Delia Gagliardi, Matteo Fare, Megi Meneri, Barbara Poletti, Luca Maderna, Stefania Corti, Massimo Corbo, Claudia Morelli, Vincenzo Silani, Nicola Ticozzi
FRONTIERS IN NEUROLOGY
(2023)