Article
Multidisciplinary Sciences
Longping Tse, Rita M. Meganck, Kenza C. Araba, Boyd L. Yount, Kendall M. Shaffer, Yixuan J. Hou, Jennifer E. Munt, Lily E. Adams, Jason A. Wykoff, Jeremy M. Morowitz, Stephanie Dong, Scott T. Magness, William F. Marzluff, Liara M. Gonzalez, Camille Ehre, Ralph S. Baric
Summary: SADS-CoV poses a threat to both human and animal populations, and the host factor PLAC8 has been identified as essential for infection. This conserved infection pathway among mammals could be a promising target for antiviral development.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Cell Biology
Jiri Koutnik, Verena Neururer, Thomas Gruber, Sebastian Peer, Natascha Hermann-Kleiter, William J. Olson, Verena Labi, Michael Leitges, Gottfried Baier, Kerstin Siegmund
Summary: The deficiency of PKD3 leads to a skewing of T cell compartment towards an activated phenotype in mice, but it is dispensable for naive CD4(+) T cell differentiation in vitro.
CELL COMMUNICATION AND SIGNALING
(2022)
Article
Cardiac & Cardiovascular Systems
Andrea D. Thompson, Marcus J. Wagner, Juliani Rodriguez, Alok Malhotra, Steve Vander Roest, Ulla Lilienthal, Hao Shao, Mathav Vignesh, Keely Weber, Jaime M. Yob, Benjamin L. Prosser, Adam S. Helms, Jason E. Gestwicki, David Ginsburg, Sharlene M. Day
Summary: This study identifies the heat shock protein 70-BAG3 complex as a regulator of MyBP-C stability in familial hypertrophic cardiomyopathy. The findings suggest potential therapeutic strategies for this condition.
JACC-BASIC TO TRANSLATIONAL SCIENCE
(2023)
Article
Medicine, Research & Experimental
Yao-qiang Du, Chong-yi Shu, Min Zheng, Wei-de Xu, Yue Sun, Lu Shen, Chen Zhang, Yu-xin Zhang, Qian-ni Wang, Kai-qiang Li, Bing-yu Chen, Ke Hao, Jian-xin Lyu, Zhen Wang
Summary: The deficiency of protein interacting with C kinase 1 (PICK1) in sperm cells disrupts vesicle trafficking and acrosome formation, leading to male infertility. A novel variant in the PICK1 gene, c.364delA (p.Lys122SerfsX8), was found to affect its biological function, and a PICK1 knockout mouse model showed abnormalities in sperm morphology and mitochondrial function.
CURRENT MEDICAL SCIENCE
(2023)
Article
Oncology
Ge Luan, Ming Wang, Jing Yuan, Xiangting Bu, Jing Song, Chengshuo Wang, Luo Zhang
Summary: A miR-21-gene regulatory network was constructed in mouse lung tissue, showing extensive upregulation of tumor suppressor genes and downregulation of oncogenes in miR-21KO mice.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2022)
Article
Genetics & Heredity
Louise van der Weyden, Victoria Offord, Gemma Turner, Agnes Swiatkowska, Anneliese O. Speak, David J. Adams
Summary: This study identified genes that can promote successful metastasis and colonization of the lung in melanoma cells, potentially representing novel therapeutic targets to inhibit pulmonary metastasis.
G3-GENES GENOMES GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Guiying Shi, Xinyue Li, Keya Li, Yiying Huang, Xuepei Lei, Lin Bai, Chuan Qin
Summary: The study investigated the role of lipoprotein lipase (LPL) in regulating HSC proliferation, revealing that LPL+/- mice exhibited impaired HSC compartment due to enhanced proliferation without affecting the bone marrow microenvironment.
ANIMAL MODELS AND EXPERIMENTAL MEDICINE
(2021)
Article
Biochemical Research Methods
Reiko Iida, Misuzu Ueki, Toshihiro Yasuda
Summary: The deficiency of M-LP/Mpv17L in mice promotes physiological cardiac hypertrophy, and M-LP/Mpv17L is actively functioning as one of the PDEs in the heart.
TRANSGENIC RESEARCH
(2023)
Review
Cardiac & Cardiovascular Systems
Ralf P. Brandes, Anne Dueck, Stefan Engelhardt, Manuel Kaulich, Christian Kupatt, Maria Teresa De Angelis, Matthias S. Leisegang, Ferdinand le Noble, Alessandra Moretti, Oliver J. Mueller, Boris V. Skryabin, Thomas Thum, Wolfgang Wurst
Summary: Gene editing has evolved from a scientific concept to a widely used technology in laboratories, with revolutionary implications for basic science and clinical treatment. Researchers are striving to advance the field by developing new techniques and combining cellular and animal applications to address challenges in gene editing.
BASIC RESEARCH IN CARDIOLOGY
(2021)
Article
Clinical Neurology
Anne Schaenzer, Melanie T. Achleitner, Dietrich Truembach, Laurence Hubert, Arnold Munnich, Barbara Ahlemeyer, Maha M. AlAbdulrahim, Philipp A. Greif, Sebastian Vosberg, Blake Hummer, Rene G. Feichtinger, Johannes A. Mayr, Saskia B. Wortmann, Heidi Aichner, Sabine Rudnik-Schoeneborn, Anna Ruiz, Elisabeth Gabau, Jacobo Perez Sanchez, Sian Ellard, Tessa Homfray, Karen L. Stals, Wolfgang Wurst, Bernd A. Neubauer, Till Acker, Stefan K. Bohlander, Cedric Asensio, Claude Besmond, Fowzan S. Alkuraya, Moenaldeen D. AlSayed, Andreas Hahn, Axel Weber
Summary: Mutations in the HID1 gene were found to cause early infantile encephalopathy with hypopituitarism as the main presentation, expanding the spectrum of syndromic CNS diseases caused by interference with TGN function.
ANNALS OF NEUROLOGY
(2021)
Editorial Material
Genetics & Heredity
Marie-Christine Birling, Atsushi Yoshiki, David J. Adams, Shinya Ayabe, Arthur L. Beaudet, Joanna Bottomley, Allan Bradley, Steve D. M. Brown, Antje Buerger, Wendy Bushell, Francesco Chiani, Hsian-Jean Genie Chin, Skevoulla Christou, Gemma F. Codner, Francesco J. DeMayo, Mary E. Dickinson, Brendan Doe, Leah Rae Donahue, Martin D. Fray, Alessia Gambadoro, Xiang Gao, Marina Gertsenstein, Alba Gomez-Segura, Leslie O. Goodwin, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Si-Tse Jiang, Monica J. Justice, Petr Kasparek, Ruairidh E. King, Ralf Kuhn, Ho Lee, Young Jae Lee, Zhiwei Liu, K. C. Kent Lloyd, Isabel Lorenzo, Ann-Marie Mallon, Colin McKerlie, Terrence F. Meehan, Violeta Munoz Fuentes, Stuart Newman, Lauryl M. J. Nutter, Goo Taeg Oh, Guillaume Pavlovic, Ramiro Ramirez-Solis, Barry Rosen, Edward J. Ryder, Luis A. Santos, Joel Schick, John R. Seavitt, Radislav Sedlacek, Claudia Seisenberger, Je Kyung Seong, William C. Skarnes, Tania Sorg, Karen P. Steel, Masaru Tamura, Glauco P. Tocchini-Valentini, Chi-Kuang Leo Wang, Hannah Wardle-Jones, Marie Wattenhofer-Donze, Sara Wells, Michael V. Wiles, Brandon J. Willis, Joshua A. Wood, Wolfgang Wurst, Ying Xu, Lydia Teboul, Stephen A. Murray
Summary: The International Mouse Phenotyping Consortium has reported the generation of new mouse mutant strains for over 5,000 genes, including 2,850 new null mutations, 2,987 new conditional-ready strains, and 4,433 new reporter alleles.
Article
Biology
Jinmi Choi, Kseniia Lysakovskaia, Gregoire Stik, Carina Demel, Johannes Soeding, Tian Tian, Thomas Graf, Patrick Cramer
Summary: Enhancer activity plays a crucial role in cell differentiation and cell fate determination. This study demonstrates that while most putative enhancers cooperate in an additive manner, some enhancers synergistically regulate the transcription of target genes, which are cell type-specific and can contribute to cell fate determination. Enhancer synergy appears to depend on cell type-specific transcription factors and cannot be predicted from occupancy or accessibility data used to detect superenhancers.
Article
Biochemistry & Molecular Biology
Hung-En Hsia, Johanna Tueshaus, Xiao Feng, Laura Hofmann, Benedikt Wefers, Denise K. Marciano, Wolfgang Wurst, Stefan F. Lichtenthaler
Summary: This study reveals the function of endoglycan in neurite branching, identifies endoglycan as an ADAM10 substrate, and suggests that ADAM10 cleavage of endoglycan may contribute to neurite branching.
Article
Biochemistry & Molecular Biology
Caroline A. Biagosch, Silvia Vidali, Michael Faerberboeck, Svenja-Viola Hensler, Lore Becker, Oana Amarie, Antonio Aguilar-Pimentel, Lillian Garrett, Tanja Klein-Rodewald, Birgit Rathkolb, Enrica Zanuttigh, Julia Calzada-Wack, Patricia Da Silva-Buttkus, Jan Rozman, Irina Treise, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, Dirk Janik, Wolfgang Wurst, Johannes A. Mayr, Thomas Klopstock, Thomas Meitinger, Holger Prokisch, Arcangela Iuso
Summary: This study introduces a whole-body Wdr45 knockout mouse model characterized by neuropathology signs, hearing and visual impairment, specific hematological alterations, but no brain iron accumulation. The model complements existing models and provides a robust tool for investigating BPAN pathophysiology and testing therapeutic strategies.
Article
Cell Biology
Dong-Jiunn Jeffery Truong, Teeradon Phlairaharn, Bianca Esswein, Christoph Gruber, Deniz Tuemen, Eniko Baligacs, Niklas Armbrust, Francesco Leandro Vaccaro, Eva-Maria Lederer, Eva Magdalena Beck, Julian Geilenkeuser, Simone Goeppert, Luisa Krumwiede, Christian Graetz, Gerald Raffl, Dominic Schwarz, Martin Zirngibl, Milica Zivanic, Maren Beyer, Johann Dietmar Koerner, Tobias Santl, Valentin Evsyukov, Tabea Strauss, Sigrid C. Schwarz, Guenter U. Hoeglinger, Peter Heutink, Sebastian Doll, Marcus Conrad, Florian Giesert, Wolfgang Wurst, Gil Gregor Westmeyer
Summary: A cell-based reporter system named EXSISERS was developed by Truong et al., allowing non-invasive quantification of protein expression levels of exon-specific isoforms via intein-mediated protein splicing. This system enables non-disruptive and multimodal monitoring of exon-specific isoform expression with high sensitivity and cellular resolution, as well as high-throughput screening of exon-specific therapeutic interventions.
NATURE CELL BIOLOGY
(2021)
Article
Cell Biology
Tabea Strauss, Amir Marvian-Tayaranian, Eldem Sadikoglou, Ashutosh Dhingra, Florian Wegner, Dietrich Truembach, Wolfgang Wurst, Peter Heutink, Sigrid C. Schwarz, Guenter U. Hoeglinger
Summary: The H1 haplotype of the MAPT gene is a common genetic risk factor for various neurodegenerative diseases, but the molecular mechanism remains unclear. This study introduced a useful tool of smNPC cell lines homozygous for different MAPT haplotypes, revealing differences in TAU and alpha-SYNUCLEIN profiles between H1/H1 and H2/H2 cell lines. This resource aims to address a gap in modeling sporadic tauopathies with iPSCs.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, Research & Experimental
Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E. Urquhart, Jana Meisterknecht, Juan Antonio Aguilar-Pimentel, Oana Amarie, Lore Becker, Catherine Breen, Julia Calzada-Wack, Nirav F. Chhabra, Yi-Li Cho, Patricia da Silva-Buttkus, Rene G. Feichtinger, Kristine Gampe, Lillian Garrett, Kai P. Hoefig, Sabine M. Hoelter, Elisabeth Jameson, Tanja Klein-Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer-Kuckuk, Gregor Miller, Manuela A. Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H. Walter, Wolfgang Wurst, Johannes A. Mayr, Helmut Fuchs, Ulrich Gaertner, Ilka Wittig, Robert W. Taylor, William G. Newman, Holger Prokisch, Valerie Gailus-Durner, Martin Hrabe de Angelis
Summary: Mitochondrial disorders can manifest as a variety of clinical and genetic presentations, with isolated complex III deficiency being relatively uncommon. This study highlights a homozygous deletion in UQCRH as the genetic cause of complex III deficiency in two affected cousins, leading to severe metabolic disturbances and neurological complications. The generation of a mouse model with a comparable Uqcrh deletion confirmed the pathogenicity of this mutation and provides a valuable tool for future research on human complex III deficiency.
EMBO MOLECULAR MEDICINE
(2021)
Article
Immunology
Gesine Behrens, Stephanie L. Edelmann, Timsse Raj, Nina Kronbeck, Thomas Monecke, Elena Davydova, Elaine H. Wong, Lisa Kifinger, Florian Giesert, Martin E. Kirmaier, Christine Hohn, Laura S. de Jonge, Mariano Gonzalez Pisfil, Mingui Fu, Sebastian Theurich, Stefan Feske, Naoto Kawakami, Wolfgang Wurst, Dierk Niessing, Vigo Heissmeyer
Summary: The proteins Roquin-1 and Regnase-1 play crucial roles in maintaining immune homeostasis, with mutations leading to systemic lupus erythematosus-like phenotypes and autoimmunity. Additionally, these mutations affect T cell activation, metabolic reprogramming, and autoimmunity processes.
Article
Cell Biology
Rosario Sanchez-Gonzalez, Christina Koupourtidou, Tjasa Lepko, Alessandro Zambusi, Klara Tereza Novoselc, Tamara Durovic, Sven Aschenbroich, Veronika Schwarz, Christopher T. Breunig, Hans Straka, Hagen B. Huttner, Martin Irmler, Johannes Beckers, Wolfgang Wurst, Andreas Zwergal, Tamas Schauer, Tobias Straub, Tim Czopka, Dietrich Truembach, Magdalena Goetz, Stefan H. Stricker, Jovica Ninkovic
Summary: The influx of cerebrospinal fluid after brain injury simultaneously activates toll-like receptor 2 (Tlr2) and chemokine receptor 3 (Cxcr3) pathways, leading to increased OPC proliferation and exacerbated glial reactivity. Interference with these pathways alleviated reactive gliosis, increased new neuron recruitment, and improved tissue restoration after injury.
Review
Biochemistry & Molecular Biology
Sebastian Schmidt, Daniela M. Vogt Weisenhorn, Wolfgang Wurst
Summary: Parkinson's disease is a complex neurodegenerative disorder with various causes. Non-enzymatic posttranslational modifications of proteins play a significant role in the pathoetiology of the disease, but our understanding is still limited. Investigating the impact of environmental proteome on Parkinson's disease is crucial for developing new diagnostic and therapeutic approaches.
MOLECULAR ASPECTS OF MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Lillian Garrett, Dietrich Truembach, Nadine Spielmann, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe De Angelis, Sabine M. Hoelter
Summary: Neuropsychiatric diseases represent a significant global disease burden and require innovative approaches for pathogenic understanding, biomarker identification, and therapeutic strategies. The malfunction of the heart/brain axis, particularly through the autonomic nervous system and brain central autonomic network interaction, plays a crucial role in the etiology of these diseases. This inter-relationship offers potential avenues for novel diagnosis and treatment approaches.
Correction
Cell & Tissue Engineering
Gianluca L. Russo, Giovanna Sonsalla, Poornemaa Natarajan, Christopher T. Breunig, Giorgia Bulli, Juliane Merl-Pham, Sabine Schmitt, Jessica Giehrl-Schwab, Florian Giesert, Martin Jastroch, Hans Zischka, Wolfgang Wurst, Stefan H. Stricker, Stefanie M. Hauck, Giacomo Masserdotti, Magdalena Goetz
Article
Behavioral Sciences
Peter Baumann, Sonja C. Schriever, Stephanie Kullmann, Annemarie Zimprich, Andreas Peter, Valerie Gailus-Durner, Helmut Fuchs, Martin Hrabe de Angelis, Wolfgang Wurst, Matthias H. Tschoep, Martin Heni, Sabine M. Hoelter, Paul T. Pfluger
Summary: Our findings suggest a new role for Dusp8 in the perception of sweet high caloric food and in the control of sucrose consumption and foraging in both mice and humans.
BRAIN AND BEHAVIOR
(2021)