Article
Biochemistry & Molecular Biology
Chiara Domenicale, Daniela Mercatelli, Federica Albanese, Salvatore Novello, Fabrizio Vincenzi, Katia Varani, Michele Morari
Summary: The levels of dopamine transporter and α-synuclein were found to change in the striatum of G2019S knock-in mice at 12 months of age, but the pathological relevance of these changes remains to be established.
Article
Biochemistry & Molecular Biology
Vincenza D'Angelo, Mauro Giorgi, Emanuela Paldino, Silvia Cardarelli, Francesca R. Fusco, Ilaria Saverioni, Roberto Sorge, Giuseppina Martella, Stefano Biagioni, Nicola B. Mercuri, Antonio Pisani, Giuseppe Sancesario
Summary: The study found regional differences in the expression and aggregation of A2A receptors in the basal ganglia of a DYT1 mouse model of dystonia, with varying levels of expression observed in different subpopulations of neurons. Based on the different expression patterns of A2A receptors among neuronal subpopulations, it suggests that the pathophysiology of dystonia may be associated with a functional imbalance between the indirect and direct pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Geriatrics & Gerontology
Laurie K. Bale, Sally A. West, Cheryl A. Conover
Summary: The study examined the effects of brain-specific PAPP-A KO in mice on metabolism and lifespan, revealing improvements in lifespan markers in non-specific PAPP-A KO mice with thymic involution. However, brain-specific PAPP-A KO mice showed no significant differences compared to the control group. Thorough characterization of tissue-specific mouse models and consideration of potential germline recombination are crucial for accurate data interpretation.
EXPERIMENTAL GERONTOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Pauline Puylaert, Melissa Van Praet, Frederik Vaes, Cedric H. G. Neutel, Lynn Roth, Pieter-Jan Guns, Guido R. Y. De Meyer, Wim Martinet
Summary: GSDMD plays a critical role in atherosclerotic plaque destabilization, with its deficiency leading to increased plaque stability and apoptosis. Targeting GSDMD may be an effective approach to limit the transition to an inflammatory, vulnerable plaque phenotype.
Article
Biochemistry & Molecular Biology
Pei Li, Binghui Zeng, Weihong Xie, Xue Xiao, Ling Lin, Dongsheng Yu, Wei Zhao
Summary: In this study, a Kdf1 missense mutation knock-in mouse model was successfully constructed using CRISPR/Cas9 gene-editing technology. The enamel structure defects in the Kdf1 mutant mice were characterized, including chalky appearance, abnormal prism structure, decreased mineral density, altered crystal ordering degree, and chemical composition changes. These findings support the potential role of the KDF1 gene in the natural development of enamel.
Article
Multidisciplinary Sciences
Tsvetana Petrova, Kyle Bennett, Sambit Nanda, Sam Strickson, Cheryl L. Scudamore, Alan R. Prescott, Philip Cohen
Summary: The expression of TRAF6 is crucial for physiological processes. TRAF6[L74H] knock-in mice exhibit a distinct phenotype of autoimmunity and inflammation, which is different from TRAF6 KO mice. The inability to signal via TNF Receptor Superfamily members may explain the different phenotypes observed in TRAF6-deficient mice.
Article
Oncology
Mayuko Ichimura-Shimizu, Masami Kojima, Shingo Suzuki, Misaki Miyata, Yui Osaki, Konomi Matsui, Toshiyuki Mizui, Koichi Tsuneyama
Summary: Reduced BDNF expression is associated with weight gain and non-alcoholic steatohepatitis (NASH). BDNF+/- mice show pathological features of NASH, including enhanced fatty acid metabolism and inflammation. Gene expression analysis supports the oxidative stress in BDNF+/- mice. This is the first report demonstrating the role of reduced BDNF expression in the pathogenic mechanism of NASH.
JOURNAL OF PATHOLOGY
(2023)
Article
Neurosciences
Tomoharu Suzuki, Junki Maruyama, Rebecca Cook, Shinji Urata, Slobodan Paessler, Tomoko Makishima
Summary: The STAT1 KO mouse model is used to mimic human viral and bacterial diseases, with the Lassa fever model showing similar phenotypes seen in human patients. Auditory analysis of the STAT1 KO mice revealed that both male and female mice have similar auditory performance suitable for studying viral infection-induced hearing loss.
NEUROSCIENCE LETTERS
(2021)
Article
Virology
Hikaru Fujii, Hideki Tani, Kazutaka Egawa, Satoshi Taniguchi, Tomoki Yoshikawa, Shuetsu Fukushi, Souichi Yamada, Shizuko Harada, Takeshi Kurosu, Masayuki Shimojima, Takahiro Maeki, Chang-Kweng Lim, Mutsuyo Takayama-Ito, Takashi Komeno, Nozomi Nakajima, Yousuke Furuta, Akihiko Uda, Shigeru Morikawa, Masayuki Saijo
Summary: Heartland bandavirus (HRTV) is a newly discovered tick-borne virus with genetic similarity to severe fever with thrombocytopenia syndrome virus (SFTSV). There are currently no approved drugs or vaccines for HRTV, and an appropriate animal model is needed for evaluation. IFNAR(-/-) mice were found to be susceptible to HRTV infection, and favipiravir showed promising results as a potential treatment option.
Article
Behavioral Sciences
Giorgia Guarneri, Simone Pifferi, Michele Dibattista, Johannes Reisert, Anna Menini
Summary: The Ca2+-activated Cl over bar channel TMEM16B plays a crucial role in olfactory sensory neurons by controlling the transduction current and the length of action potentials. Knockout of TMEM16B in mice resulted in larger EOG responses, faster kinetics, and altered adaptation to repeated stimulation. This paradoxical effect may be due to the removal of clamping and/or shunting action of Ca2+-activated Cl over bar currents.
Article
Biochemistry & Molecular Biology
Adele Mossa, Jessica Pagano, Luisa Ponzoni, Alessandro Tozzi, Elena Vezzoli, Miriam Sciaccaluga, Cinzia Costa, Stefania Beretta, Maura Francolini, Mariaelvina Sala, Paolo Calabresi, Tobias M. Boeckers, Carlo Sala, Chiara Verpelli
Summary: Mutations in SHANK family genes in humans are associated with autism spectrum disorders and intellectual disability. A new mouse model with simultaneous deletion of Shank1 and Shank3 showed low survival rate, reduced activation of signaling pathways, and severe behavioral impairments, suggesting the importance of Shank proteins in postnatal brain development and synaptic plasticity.
MOLECULAR PSYCHIATRY
(2021)
Article
Neurosciences
Michelle Ulrich, Evangelia Pollali, Gursel Caliskan, Oliver Stork, Anne Albrecht
Summary: Anxiety disorders are associated with imbalances in excitation and inhibition in a network of brain structures. Recent studies have found sex differences in the activation of this network during emotional processing. In this study, mice with genetically altered GABA neurotransmission were used to investigate the neuronal basis of this activation and its relation to anxiety. The results showed that female mice displayed increased activity and stable emotional responses, while male mice showed an increased adaptation of anxiety-like behavior over time.
NEUROBIOLOGY OF DISEASE
(2023)
Review
Oncology
Jing Li, Xin Wang, Mudan Ren, Shuixiang He, Yan Zhao
Summary: Hepatocellular carcinoma (HCC) is a common malignant tumor with poor prognosis. Animal models play a crucial role in studying the pathogenesis and drug development for HCC. This review provides a comprehensive summary of the classification, characteristics, and advances in experimental animal models of HCC, serving as a reference for researchers in model selection.
Article
Immunology
Lori A. Plum, William Blaser, Logan Peter, Jean Prahl, Jeremy Seeman, Hector F. DeLuca
Summary: The study found that vitamin D is not necessary for producing antibodies, as neither vitamin D deficiency, absence of the vitamin D receptor, nor hypocalcemia affected the ability of mice to mount an antibody response to an antigen challenge.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Psychiatry
Gary R. Hime, Sophie L. A. Stonehouse, Terence Y. Pang
Summary: Mental illness continues to be the greatest chronic health burden globally, with psychiatry facing the challenge of addressing the needs of vulnerable individuals and subpopulations by continuously expanding knowledge. The majority of neuropsychiatric symptoms result from complex gene-environment interactions, with epigenetics playing a key role in bridging genetic susceptibility and environmental stressors. Preclinical models have shown that epigenetics is involved in the transgenerational inheritance of stress-related behavioral phenotypes, providing further evidence for heritability in humans.
WORLD JOURNAL OF PSYCHIATRY
(2021)
Review
Cell Biology
Monilola A. Olayioye, Bettina Noll, Angelika Hausser
Article
Gastroenterology & Hepatology
Shuya Zhang, Huan Liu, Meimei Yin, Xiuying Pei, Angelika Hausser, Eri Ishikawa, Sho Yamasaki, Zheng Gen Jin
Article
Oncology
Wolfgang S. Lieb, Cristiana Lungu, Raluca Tamas, Hannah Berreth, Philipp Rathert, Peter Storz, Monilola A. Olayioye, Angelika Hausser
INTERNATIONAL JOURNAL OF CANCER
(2020)
Article
Biochemistry & Molecular Biology
Ines Mueller, Elwira Strozyk, Sebastian Schindler, Stefan Beissert, Htoo Zarni Oo, Thomas Sauter, Philippe Lucarelli, Sebastian Raeth, Angelika Hausser, Nader Al Nakouzi, Ladan Fazli, Martin E. Gleave, He Liu, Hans-Uwe Simon, Henning Walczak, Douglas R. Green, Jiri Bartek, Mads Daugaard, Dagmar Kulms
Article
Cell Biology
Natalia Pacheco-Fernandez, Mehrshad Pakdel, Birgit Blank, Ismael Sanchez-Gonzalez, Kathrin Weber, Mai Ly Tran, Tobias Karl-Heinz Hecht, Renate Gautsch, Gisela Beck, Franck Perez, Angelika Hausser, Stefan Linder, Julia von Blume
JOURNAL OF CELL BIOLOGY
(2020)
Correction
Biochemistry & Molecular Biology
Birte Zurek, Kornelia Ellwanger, Lisenka E. L. M. Vissers, Rebecca Schule, Matthis Synofzik, Ana Topf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A. C. 't Hoen, Antonio Vitobello, Julia M. Schulze-Hentrich, Olaf Riess, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisele Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Editorial Material
Biochemistry & Molecular Biology
Birte Zurek, Kornelia Ellwanger, Lisenka E. L. M. Vissers, Rebecca Schuele, Matthis Synofzik, Ana Topf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A. C. 't Hoen, Antonio Vitobello, Julia M. Schulze-Hentrich, Olaf Riess, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisele Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner
Summary: Solve-RD is a groundbreaking EU project that brings together rare disease experts to actively share and analyze patient data, aiming to solve unsolved rare diseases through innovative clinical research methods. The project has already seen success in diagnosing cases through massive data re-analysis and novel -omics approaches.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Cell Biology
Heidrun Steinle, Kornelia Ellwanger, Nora Mirza, Selina Briese, Ioannis Kienes, Jens Pfannstiel, Thomas A. Kufer
Summary: The study identified the molecular composition of the complexes formed by RIPK2 with several cellular proteins upon NOD1/2 activation. These interactions were validated using protein binding assays and immunofluorescence staining. Besides bacterial activation of NOD1/2, RIPK2 cytosolic complexes were also formed following XIAP inhibition and treatment with RIPK2 inhibitors.
JOURNAL OF CELL SCIENCE
(2021)
Article
Cell Biology
Carlos O. Oueslati Morales, Attila Ignacz, Norbert Bencsik, Zsofia Sziber, Aniko Erika Ratkai, Wolfgang S. Lieb, Stephan A. Eisler, Attila Szucs, Katalin Schlett, Angelika Hausser
Summary: The PKD family promotes AMPAR endocytosis in primary hippocampal neurons, affecting synaptic plasticity. Inhibition of PKD increases AMPAR levels at synapses, slows down their endocytic trafficking, and enhances neuronal network activity. Conversely, ectopic expression of constitutive active PKD reduces synaptic AMPAR levels but increases their colocalization with early endosomes.
Article
Cell Biology
Cathrin Hagenlocher, Robin Siebert, Bruno Taschke, Senait Wieske, Angelika Hausser, Markus Rehm
Summary: Prolonged ER stress can trigger cell death, but the mechanism differs between cancer cells and pancreatic beta cells. This study found that ER stress-induced apoptosis in pancreatic beta cells does not involve TRAIL-R2, unlike in cancer cells. These findings have implications for targeted treatment strategies that need to consider the ER stress susceptibility of different cell types.
CELL DEATH DISCOVERY
(2022)
Article
Multidisciplinary Sciences
Ronja Reinhardt, Kai Hirzel, Gisela Link, Stephan A. Eisler, Tanja Hagele, Matthew A. H. Parson, John E. Burke, Angelika Hausser, Thomas A. Leonard
Summary: Phosphorylation is a common mechanism in cell signaling, and protein kinases are often regulated by phosphorylation. However, PKD regulates itself through dimerization-mediated trans-autoinhibition, followed by autophosphorylation, to control its activity.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Cell Biology
Attila Ignacz, Domonkos Nagy-Herczeg, Angelika Hausser, Katalin Schlett
Summary: The actin cytoskeleton is the main regulator of synapse formation and maintenance. Different actin probes were compared in cultured hippocampal neurons to study their effectiveness in visualizing actin dynamics. The results showed that LifeAct-GFP and AC-GFP had similar affinity to actin, but they couldn't detect subtle changes in actin remodeling as effectively as EGFP-actin. Additionally, LifeAct-GFP had lower enrichment in dendritic spines compared to the other probes.
MOLECULAR BIOLOGY OF THE CELL
(2023)
Article
Oncology
Sophia Steinlein, Frank Essmann, Amanda Franceschini Ghilardi, Heike Horn, Julia Schueler, Angelika Hausser, Lijun Sun, German Ott, Claudia Kalla
Summary: In this study, two indolyl-chalcones (CIT-026 and CIT-223) were found to be highly effective in inhibiting the growth and viability of malignant pleural mesothelioma (MPM) cells, while having minimal effects on normal fibroblasts. These compounds induce tumor cell apoptosis by disrupting microtubule assembly and show promising potential as small-molecule therapeutics for MPM, especially in cells resistant to standard therapeutics.
FRONTIERS IN ONCOLOGY
(2023)
Review
Cell Biology
Elena Gutierrez-Galindo, Zeynep Hazal Yilmaz, Angelika Hausser
Summary: Protein kinase D (PKD) is a serine/threonine kinase family that plays a crucial role in the secretory pathway at the trans-Golgi network. Abnormal expression of PKD isoforms is mainly found in breast cancer, where it promotes growth, invasion, survival, and stem cell maintenance. This review discusses the isoform-specific functions of PKD in breast cancer progression, specifically focusing on the connection between PKD-regulated cellular processes and deregulated membrane trafficking and secretion. The challenges of targeting PKD as a therapeutic approach to prevent breast cancer progression are also highlighted.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
David Lagorce, Emeline Lebreton, Leslie Matalonga, Oscar Hongnat, Maroua Chahdil, Davide Piscia, Ida Paramonov, Kornelia Ellwanger, Sebastian Koehler, Peter Robinson, Holm Graessner, Sergi Beltran, Caterina Lucano, Marc Hanauer, Ana Rath
Summary: Rare diseases are difficult to diagnose, especially when the causative gene is unidentified. The Solve-RD project aims to identify the molecular causes of undiagnosed rare diseases through phenotypic similarity analysis and genomic data reanalysis. Promising results were obtained in the tested cases.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
