Article
Cell Biology
Karla G. Espinosa, Salma Geissah, Linda Groom, Jonathan Volpatti, Ian C. Scott, Robert T. Dirksen, Mo Zhao, James J. Dowling
Summary: This study reported a new zebrafish model, zebrafish speg-DKO, of centronuclear myopathy (CNM), and demonstrated its ability to accurately recapitulate multiple phenotypes associated with CNM. This model provides a potential platform for investigating disease mechanisms and evaluating potential therapies for CNM.
DISEASE MODELS & MECHANISMS
(2022)
Article
Biology
Xueyong Wang, Murad Nawaz, Chris DuPont, Jessica H. Myers, Steve Ra Burke, Roger A. Bannister, Brent D. Foy, Andrew A. Voss, Mark M. Rich
Summary: Excitation-contraction coupling is the process of converting electrical excitation of muscle into force generation. Depolarization of skeletal muscle can lead to failure of ECC, specifically the failure to generate calcium transients. Different AP properties, such as AP peak and AP integral, play important roles in different steps of ECC, including AP conduction and calcium release.
Article
Biochemistry & Molecular Biology
Yukari Endo, Linda Groom, Sabrina M. Wang, Emanuela Pannia, Nigel W. Griffiths, Jenica L. M. Van Gennip, Brian Ciruna, Jocelyn Laporte, Robert T. Dirksen, James J. Dowling
Summary: CACNA1S-related myopathy is a congenital muscle disease with no effective therapies available. The lack of suitable animal models has hindered its study. Researchers have successfully generated zebrafish models that mimic key aspects of the severe and mild forms of the disease, providing a basis for future mechanistic studies and therapy development.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biology
Wei Wen, Chenchen Sun, Zhanglin Chen, Dong Yang, Zuoqiong Zhou, Xiyang Peng, Changfa Tang
Summary: This study investigated the effect of alcohol on skeletal muscle using a zebrafish model and revealed its molecular mechanism. The results showed that alcohol exposure led to decreased body size, skeletal muscle fiber size, swimming performance, and oxygen consumption in zebrafish. Alcohol also increased the expression of markers for muscle atrophy and autophagy, as well as inflammation and oxidative stress.
Article
Clinical Neurology
Bungo Hirose, Kazuna Ikeda, Daisuke Yamamoto, Emiko Tsuda, Rika Yamauchi, Takayoshi Hozuki, Yoshiki Masuda, Tomihiro Imai
Summary: The study aimed to develop a simple and reliable technique for early diagnosis of critical illness myopathy (CIM) by evaluating excitation-contraction (E-C) coupling. The measurement of E-C coupling time (ECCT) was found to be an effective method to detect reduced muscle membrane excitability in the early stage of CIM.
CLINICAL NEUROPHYSIOLOGY
(2022)
Review
Physiology
Pura Bolanos, Juan C. Calderon
Summary: The excitation-contraction coupling in skeletal muscle is a crucial link between membrane excitation and mechanical contraction mediated by Ca2+, involving multiple mechanisms of Ca2+ release and recycling.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Dmitry Shishmarev, Emily Rowland, Shouvik Aditya, Srinivasan Sundararaj, Aaron J. Oakley, Angela F. Dulhunty, Marco G. Casarotto
Summary: Excitation-contraction coupling is the process by which an electrical signal is converted into muscle contraction. In this study, the interaction between two calcium channels, dihydropyridine receptor (DHPR) and ryanodine receptor 1 (RyR1), during the excitation-contraction coupling process was investigated. The results showed that the protein STAC3 interacts with a subunit of the DHPR known as the II-III loop, and this interaction differs from the interaction with the neuronal isoform STAC2. These findings provide insights into the molecular mechanism of excitation-contraction coupling in skeletal muscle.
Review
Pharmacology & Pharmacy
Mathilde Beaufils, Lauriane Travard, John Rendu, Isabelle Marty
Summary: RyR1-related myopathies are genetic neuromuscular diseases caused by mutations in the RYR1 gene, with no current treatment options. However, with the increasing number of preclinical assessments and clinical trials, there is hope for future therapeutic perspectives.
CURRENT PHARMACEUTICAL DESIGN
(2022)
Article
Genetics & Heredity
Aysylu Murtazina, Nina Demina, Polina Chausova, Olga Shchagina, Artem Borovikov, Elena Dadali
Summary: This study reports the first Russian patient with native American myopathy (NAM) associated with pathogenic variants in the STAC3 gene. The patient has compound-heterozygous single nucleotide variants and exhibits a milder phenotype. This is the first case of a patient with both nonsense and frameshift variants in the STAC3 gene.
Article
Biochemistry & Molecular Biology
Cathrine Nordgaard, Anna Constance Vind, Amy Stonadge, Rasmus Kjobsted, Goda Snieckute, Pedro Antas, Melanie Blasius, Marie Sofie Reinert, Ana Martinez Del Val, Dorte Breinholdt Bekker-Jensen, Peter Haahr, Yekaterina A. Miroshnikova, Abdelghani Mazouzi, Sarah Falk, Emeline Perrier-Groult, Christopher Tiedje, Xiang Li, Jens Rithamer Jakobsen, Nicolas Oldenburg Jorgensen, Jorgen F. P. Wojtaszewski, Frederic Mallein-Gerin, Jesper Lovind Andersen, Cristian Pablo Pennisi, Christoffer Clemmensen, Moustapha Kassem, Abbas Jafari, Thijn Brummelkamp, Vivian S. W. Li, Sara A. Wickstrom, Jesper Velgaard Olsen, Gonzalo Blanco, Simon Bekker-Jensen
Summary: This study reveals the mechanisms by which muscle fibers sense mechanical load to activate p38 and JNK signaling. ZAK is able to recognize stress fibers in cells and Z-discs in muscle fibers under mechanical stress. ZAK deficiency leads to skeletal muscle defects and changes in myosin profile.
Article
Biochemistry & Molecular Biology
Patrick J. Ferrara, Anthony R. P. Verkerke, J. Alan Maschek, Justin L. Shahtout, Piyarat Siripoksup, Hiroaki Eshima, Jordan M. Johnson, Jonathan J. Petrocelli, Ziad S. Mahmassani, Thomas D. Green, Joseph M. McClung, James E. Cox, Micah J. Drummond, Katsuhiko Funai
Summary: Obesity-induced alterations in skeletal muscle lipidome may contribute to reduced muscle contractile force. A study found a strong positive correlation between lysophosphatidylcholine (lyso-PC) abundance and maximal tetanic force production in mouse skeletal muscle, regulated by lyso-PC acyltransferase 3 (LPCAT3). Overexpression of LPCAT3 led to reduced lyso-PC content in muscles, but also weaker force-generating capacity, particularly under high-fat diet conditions. Further research is needed to explore how LPCAT3 may affect protein turnover and promote myopathy.
Article
Neurosciences
Valerie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Melanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, Francois Jerome Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Pereon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Megane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Faure, Johann Bohm
Summary: The recurrent RYR1 mutation previously classified as VUS was found in thirteen patients from nine unrelated congenital myopathy families with consistent clinical presentation, providing evidence of its pathogenicity. This mutation causes an atypical congenital myopathy with slowly improving motor function over the first decades of life, indicating a potential for directing molecular diagnosis for patients with similar clinical presentation.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2021)
Article
Biology
Arian Mansur, Remi Joseph, Euri S. Kim, Pierre M. Jean-Beltran, Namrata D. Udeshi, Cadence Pearce, Hanjie Jiang, Reina Iwase, Miroslav P. Milev, Hashem A. Almousa, Elyshia McNamara, Jeffrey Widrick, Claudio Perez, Gianina Ravenscroft, Michael Sacher, Philip A. Cole, Steven A. Carr, Vandana A. Gupta
Summary: Dysfunction of the ubiquitin-proteasome system (UPS) is associated with various human diseases. This study focuses on understanding the regulation of protein turnover during skeletal muscle development and disease progression. By analyzing the KLHL40-regulated ubiquitin-modified proteome in zebrafish, the researchers identified the role of KLHL40 in ER-Golgi anterograde trafficking and its impact on muscle development. The findings suggest that the muscle proteome is finely regulated by ubiquitylation and uncover new disease mechanisms.
Article
Cell Biology
Alexander Sonne, Lorenzo Peverelli, Aurelio Hernandez-Lain, Cristina Dominguez-Gonzalez, Jesper L. Andersen, Margherita Milone, Alan H. Beggs, Julien Ochala
Summary: In this study, we investigated the effects of MYH2 truncating mutations on the presence and post-translational modifications of myosin heavy chains, as well as the functionality of myosin molecules. We found that these mutations resulted in the presence of type IIa myosin heavy chains with an additional acetylated lysine in patients, accompanied by increased ATP demand, faster actomyosin kinetics, and reduced muscle fiber force.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2023)
Review
Physiology
Walter C. Thompson, Paul H. Goldspink
Summary: This review focuses on the crucial role of 14-3-3 proteins in regulating excitation-contraction coupling in muscle, highlighting the need for further investigation into their mechanistic actions in force generation.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
(2022)
Article
Biochemical Research Methods
Tripti Gupta, Gregory D. Marquart, Eric J. Horstick, Kathryn M. Tabor, Sinisa Pajevic, Harold A. Burgess
Review
Pharmacology & Pharmacy
Jeremy W. Linsley, Terry Reisine, Steven Finkbeiner
EXPERT OPINION ON DRUG DISCOVERY
(2019)
Article
Neurosciences
Mark Y. Fang, Sebastian Markmiller, Anthony Q. Vu, Ashkan Javaherian, William E. Dowdle, Philippe Jolivet, Paul J. Bushway, Nicholas A. Castello, Ashmita Baral, Michelle Y. Chan, Jeremy W. Linsley, Drew Linsley, Mark Mercola, Steven Finkbeiner, Eric Lecuyer, Joseph W. Lewcock, Gene W. Yeo
Article
Multidisciplinary Sciences
Eric J. Horstick, Yared Bayleyen, Harold A. Burgess
NATURE COMMUNICATIONS
(2020)
Article
Multidisciplinary Sciences
Jeremy W. Linsley, Kevan Shah, Nicholas Castello, Michelle Chan, Dominik Haddad, Zak Doric, Shijie Wang, Wiktoria Leks, Jay Mancini, Viral Oza, Ashkan Javaherian, Ken Nakamura, David Kokel, Steven Finkbeiner
Summary: Cell death is a critical process in health and disease, and the genetically encoded death indicators (GEDIs) are able to mark an irreversible stage of cell death earlier than previously possible, providing a new definition and method for studying cell death.
NATURE COMMUNICATIONS
(2021)
Article
Toxicology
Travon Cooman, Sadie A. Bergeron, Rebecca Coltogirone, Eric Horstick, Luis Arroyo
Summary: The study evaluated the effects of fentanyl on the development and metabolism of zebrafish, finding significant impacts on survival and development, as well as notable defects to the tail, yolk, and pericardium. Metabolites of fentanyl were detected in zebrafish larvae, presenting a single in vivo model for assessing the toxicity and metabolism of fentanyl exposure in a vertebrate system.
JOURNAL OF APPLIED TOXICOLOGY
(2022)
Article
Behavioral Sciences
John Hageter, Matthew Waalkes, Jacob Starkey, Haylee Copeland, Heather Price, Logan Bays, Casey Showman, Sean Laverty, Sadie A. Bergeron, Eric J. Horstick
Summary: Innate behavioral biases like human handedness are common forms of inter-individual variation, influenced by genetic and environmental factors. Research on larval zebrafish shows significant individual variation in turning preference, impacted by factors like temperature and pharmacological manipulation of Notch signaling. Results suggest larval zebrafish is a valuable vertebrate model for studying inter-individual variation in behavior and neural development.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2021)
Article
Multidisciplinary Sciences
Jeremy W. Linsley, Drew A. Linsley, Josh Lamstein, Gennadi Ryan, Kevan Shah, Nicholas A. Castello, Viral Oza, Jaslin Kalra, Shijie Wang, Zachary Tokuno, Ashkan Javaherian, Thomas Serre, Steven Finkbeiner
Summary: Optimized convolutional neural networks (BO-CNNs) improve the detection accuracy and speed of cell death, while also revealing a previously unnoticed intranuclear cell signal that reliably indicates death. These models are essential for analyzing live microscopy and interpreting high-throughput experiments.
Article
Biology
Fatimah Matalkah, Bohye Jeong, Macie Sheridan, Eric Horstick, Visvanathan Ramamurthy, Peter Stoilov
Summary: RNA-binding proteins Musashi 1 and 2 play important roles in the survival and function of photoreceptor cells, regulating splicing and protein expression. Their roles in stem cells are opposite to their roles in mature photoreceptor cells, but they are still essential.
COMMUNICATIONS BIOLOGY
(2022)
Review
Neurosciences
Jacob Starkey, Eric J. Horstick, Sarah D. Ackerman
Summary: Animal behavior relies on the accurate wiring of neurons into neural circuits, which undergo significant remodeling during critical periods. Environmental experiences during these periods can have lasting effects on circuit function and behavior. Understanding the mechanisms that regulate critical period timing is crucial for studying neurodevelopmental disorders, and glial cells may play a role in this process.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Article
Biochemical Research Methods
John Hageter, Jacob Starkey, Allison Barr, Johnathon R. Huff, Eric J. Horstick
Summary: This article describes a minimally invasive protocol for immobilizing zebrafish during early development to control visual experience. The authors provide detailed instructions on preparing and embedding larvae, building a behavior rig, and analyzing behavioral data.
Article
Multidisciplinary Sciences
I-Uen Hsu, Jeremy W. Linsley, Xiaoli Zhang, Jade E. Varineau, Drew A. Berkhoudt, Lilly E. Reid, Miranda C. Lum, Allison M. Orzel, Ari Leflein, Haoxing Xu, Catherine A. Collins, Richard I. Hume, Edwin S. Levitan, John Y. Kuwada
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Biology
Jeremy W. Linsley, Atmiyata Tripathi, Irina Epstein, Galina Schmunk, Elliot Mount, Matthew Campioni, Viral Oza, Mariya Barch, Ashkan Javaherian, Tomasz J. Nowakowski, Siddharth Samsi, Steven Finkbeiner
COMMUNICATIONS BIOLOGY
(2019)
Proceedings Paper
Computer Science, Information Systems
Drew Linsley, Jeremy W. Linsley, Tarun Sharma, Nathan Meyers, Thomas Serre
2018 52ND ANNUAL CONFERENCE ON INFORMATION SCIENCES AND SYSTEMS (CISS)
(2018)
