Article
Cell Biology
Qi Zhu, Feng Liang, Shufang Cai, Xiaorong Luo, Tianqi Duo, Ziyun Liang, Zuyong He, Yaosheng Chen, Delin Mo
Summary: KDM4A deficiency in skeletal muscle impairs muscle formation and regeneration, and inhibits myogenic cell proliferation and differentiation.
CELL DEATH & DISEASE
(2021)
Article
Biology
Zhenzhen Xiong, Mengni Wang, Shanshan You, Xiaoyan Chen, Jiangguo Lin, Jianhua Wu, Xiaozhong Shi
Summary: In this study, we identified the mechanism regulating the dynamic expression of Tceal7 during skeletal muscle regeneration, and demonstrated the interaction between the triple complex of Mef2c, Creb1, and Myod and the Mef2#3-CRE#3-E#4 motifs in the Tceal7 promoter, which drives Tceal7 expression.
Article
Cell Biology
Jeong Ho Lim, Mirza Masroor Ali Beg, Khurshid Ahmad, Sibhghatulla Shaikh, Syed Sayeed Ahmad, Hee Jin Chun, Dukhwan Choi, Woo-Jong Lee, Jun-O Jin, Jihoe Kim, Arif Tasleem Jan, Eun Ju Lee, Inho Choi
Summary: The study shows that IgLON5 plays a crucial role in myogenesis and muscle regeneration by interacting with extracellular matrix and cell membrane proteins, creating an essential microenvironment for muscle stem cell survival.
Review
Biochemistry & Molecular Biology
HoTae Lim, In Young Choi, Sang-Hwan Hyun, Hyesoo Kim, Gabsang Lee
Summary: Using hPSCs to generate skeletal muscle tissues in vitro provides a valuable model for understanding molecular functions and gene regulatory networks involved in muscle differentiation and disease pathology. The combination of established myogenesis protocols and molecular profiling techniques offers insights into normal and disease skeletal muscle development.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Article
Sport Sciences
Michaela Wehrstein, Axel Schoeffel, Nadine Weiberg, Thomas Gwechenberger, Theresa Betz, Mareike Rittweg, Mario Parstorfer, Maximilian Pilz, Birgit Friedmann-Bette
Summary: The study aimed to assess if one bout of concentric/eccentric exercise with damaging eccentric overload provides a sufficient stimulus to induce satellite cell (SC) activation, proliferation, and differentiation. The results showed that eccentric overload during leg extension exercise induced significant SC activation and increases in SC content, but there were no signs of increased SC differentiation or formation of new myofibers.
MEDICINE & SCIENCE IN SPORTS & EXERCISE
(2022)
Review
Cell Biology
Tomohiko Shirakawa, Takashi Toyono, Asako Inoue, Takuma Matsubara, Tatsuo Kawamoto, Shoichiro Kokabu
Summary: This review summarizes the myogenic regulatory factors (MRFs) and their regulatory factors and target genes, discussing their roles and potential applications in stem cell differentiation and muscle-related disease treatment.
Review
Biochemistry & Molecular Biology
Shoichiro Tani, Hiroyuki Okada, Ung-il Chung, Shinsuke Ohba, Hironori Hojo
Summary: Skeletal disorders, such as osteoarthritis and bone fractures, can greatly impact the quality of life for elderly individuals. Regenerative therapies using skeletal cells are a promising treatment option, with two main strategies for cell sources: induced pluripotent stem cells or extraction from skeletal tissues. These cells have the potential for differentiation into various skeletal cell types and offer applications for skeletal regeneration.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Junyu Yan, Yalan Yang, Xinhao Fan, Yijie Tang, Zhonglin Tang
Summary: This study revealed the expression and function of circHipk2 in skeletal myogenesis, showing that circHipk2 can inhibit ribosome translation, and is regulated by the transcription factor Sp1, playing an important role in ribosome biogenesis and muscle cell proliferation and differentiation.
Article
Cell Biology
Kira Mitchel, Jenna M. Bergmann, Ava E. Brent, Tova M. Finkelstein, Kyra A. Schindler, Miriam A. Holzman, Lucie Jeannotte, Jennifer H. Mansfield
Summary: The skeletal system originates from multiple embryonic sources and must develop in coordination, particularly across the lateral somitic frontier. Hox genes play a regulatory role in skeletal pattern, but there are still questions about the genetic control of this coordination, especially in structures like the sternum. The embryology of the presternum, a recently identified structure, is not well described in mouse models.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Cell & Tissue Engineering
Takamitsu Tatsukawa, Kohei Kano, Kei-ichi Nakajima, Takashi Yazawa, Ryoji Eguchi, Maki Kabara, Kiwamu Horiuchi, Taiki Hayasaka, Risa Matsuo, Naoyuki Hasebe, Nobuyoshi Azuma, Jun-ichi Kawabe
Summary: This study finds that microvascular pericytes (PCs) have myogenic potential and can act as myogenic stem cells for the homeostatic maintenance of slow-type muscles under steady conditions.
STEM CELL RESEARCH & THERAPY
(2023)
Article
Developmental Biology
Eric Paulissen, Benjamin L. Martin
Summary: The development of the vertebrate embryonic midline vasculature is closely related to the development of skeletal muscle. During development, angioblasts migrate from bilateral positions along the ventral edge of the somites to the midline and differentiate into the dorsal aorta and the cardinal vein. The absence of skeletal myogenesis leads to the migration of angioblasts to the midline but only the formation of the cardinal vein, not the dorsal aorta. This is due to the failure to activate the expression of vascular endothelial growth factor ligand vegfaa in the somites, which is required for the specification of the adjacent angioblasts into the dorsal aorta. Myod and Myf5 cooperate with Hedgehog signaling to activate and maintain vegfaa expression in the medial somites, which is necessary for angiogenic sprouting from the dorsal aorta.
DEVELOPMENTAL BIOLOGY
(2022)
Article
Geriatrics & Gerontology
Rianne D. W. Vaes, David P. J. van Dijk, Elham Aida Farshadi, Steven W. M. Olde Damink, Sander S. Rensen, Ramon C. Langen
Summary: The study revealed that factors derived from pancreatic tumor organoids alter the kinetics of myogenesis, potentially contributing to impaired muscle mass maintenance in cancer cachexia.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Cell Biology
Osvaldo Contreras, Adriana Cordova-Casanova, Enrique Brandan
Summary: The study revealed differential expression of PDGF ligands and receptors by myogenic progenitors and muscle stem cells during myogenesis. Adult muscle stem cells and myoblasts preferentially express PDGFRβ over PDGFRα. In myoblasts, PDGF-AB and PDGF-BB treatments activate downstream transducers promoting migration and proliferation, and PDGFRs inhibitor AG1296 inhibits these effects.
CELLULAR SIGNALLING
(2021)
Article
Multidisciplinary Sciences
Eleonora Maniscalco, Giuliana Abbadessa, Magali Giordano, Loredana Grasso, Paolo Borrione, Silvia Racca
Summary: This study aims to investigate the effects of Metformin (Met) on muscle tissue by evaluating its impact on the proliferation, differentiation, and metabolic activity of C2C12 cells. The study also explores the role of AMPK in the mechanism of action of Met. The results show that Met inhibits cell differentiation and cell cycle progression in C2C12 cells, accompanied by activation of AMPK.
Article
Biochemistry & Molecular Biology
Tomohiko Shirakawa, Thira Rojasawasthien, Asako Inoue, Takuma Matsubara, Tatsuo Kawamoto, Shoichiro Kokabu
Summary: The TNF-alpha and NF-kappa B signaling pathways are crucial in promoting muscle degradation, inhibiting muscle differentiation, and enhancing myoblast proliferation.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Genetics & Heredity
Richard J. L. F. Lemmers, Patrick J. van der Vliet, Ana Blatnik, Judit Balog, Janez Zidar, Don Henderson, Rianne Goselink, Stephen J. Tapscott, Nicol C. Voermans, Rabi Tawil, George W. A. M. Padberg, Baziel G. M. van Engelen, Silvere M. van der Maarel
Summary: This study identified two FSHD families in which the disease is caused by a de novo D4Z4 repeat exchange between chromosomes 4 and 10, leading to repeat contraction and DUX4 expression from chromosome 10. The genetic lesion causal to FSHD in these families is physically separated from other candidate genes on chromosome 4. Muscle cell cultures from affected family members exhibited the characteristic molecular features of FSHD, indicating that DUX4 derepression is the dominant disease pathway for FSHD.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Neurosciences
Monique Marylin Alves de Almeida, Francesca Pieropan, Tim Footz, Jorge Mauricio David, Juceni Pereira David, Victor Diogenes Amaral da Silva, Cleide dos Santos Souza, Anastassia Voronova, Arthur Morgan Butt, Silvia Lima Costa
Summary: The study showed that FAB significantly increased the proportion of MBP + / NF + axons, without affecting the overall number of oligodendroglia or axons, or the expression of oligodendroglial proteins CNPase and MBP. Additionally, FAB was found to modulate microglial responses, leading to decreased activation and increased Iba1 protein expression.
JOURNAL OF NEUROIMMUNE PHARMACOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Chao-Jen Wong, Leo Wang, V. Michael Holers, Ashley Frazer-Abel, Silvere M. van der Maarel, Rabi Tawil, Jeffrey M. Statland, Stephen J. Tapscott
Summary: Advances in understanding the pathophysiology of facioscapulohumeral dystrophy (FSHD) have led to the development of therapeutic approaches and the need for biomarkers of disease activity and progression. This study found elevated complement components in plasma from FSHD patients, suggesting the potential use of complement activation measurements as a non-invasive assessment of FSHD disease activity, progression, and response to therapies.
HUMAN MOLECULAR GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Chao-Jen Wong, Jennifer L. Whiddon, Ashlee T. Langford, Andrea E. Belleville, Stephen J. Tapscott
Summary: Mis-expression of DUX4 in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). Dogs have a DUXC gene that is similar to DUX4 and Dux, and the expression of DUXC in canine cells induces a pluripotent program similar to DUX4 and Dux. The conservation of homeodomains and transcriptional program activation between human DUX4 and canine DUXC suggests the potential use of DUXC-containing mammals for preclinical models of FSHD.
HUMAN MOLECULAR GENETICS
(2022)
Article
Multidisciplinary Sciences
Cameron Condylis, Abed Ghanbari, Nikita Manjrekar, Karina Bistrong, Shenqin Yao, Zizhen Yao, Thuc Nghi Nguyen, Hongkui Zeng, Bosiljka Tasic, Jerry L. Chen
Summary: Functional and molecular investigation of cortical circuits using two-photon calcium imaging combined with spatial transcriptomics. Identification of an excitatory cell type with high tactile feature selectivity that maintains stimulus responsiveness during altered experience. The cell type preferentially interacts with inhibitory neurons, defining a circuit hub for local sensory processing in superficial layers of the neocortex.
Article
Multidisciplinary Sciences
Anita van den Heuvel, Saskia Lassche, Karlien Mul, Anna Greco, David San Leon Granado, Arend Heerschap, Benno Kusters, Stephen J. Tapscott, Nicol C. Voermans, Baziel G. M. van Engelen, Silvere M. van der Maarel
Summary: This study investigates FSHD-associated transcriptome signatures in FSHD skeletal muscle biopsies and explores their correlation with various disease-associated factors. It also analyzes the predictive power of imaging-based biomarkers for detecting FSHD signatures in clinical trials. Additionally, the study examines the role of infiltrating non-muscle cell types in FSHD signature expression.
SCIENTIFIC REPORTS
(2022)
Correction
Cell Biology
Sarah B. Crist, Travis Nemkov, Ruth F. Dumpit, Jinxiang Dai, Stephen J. Tapscott, Lawrence D. True, Alexander Swarbrick, Lucas B. Sullivan, Peter S. Nelson, Kirk C. Hansen, Cyrus M. Ghajar
NATURE CELL BIOLOGY
(2022)
Article
Cell Biology
Sarah B. Crist, Travis Nemkov, Ruth F. Dumpit, Jinxiang Dai, Stephen J. Tapscott, Lawrence D. True, Alexander Swarbrick, Lucas B. Sullivan, Peter S. Nelson, Kirk C. Hansen, Cyrus M. Ghajar
Summary: This study reveals that skeletal muscle imposes oxidative stress on disseminated tumour cells (DTCs), which inhibits their proliferation and prevents metastatic colonization. The findings suggest new vulnerabilities of DTCs that can be targeted to prevent metastasis in susceptible tissues.
NATURE CELL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Saez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M. Krawitz, Gholson J. Lyon
Summary: KBG syndrome is a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. This study reports the findings of genetic variants and deletions in individuals with KBG syndrome, and introduces the use of videoconference and artificial intelligence in data collection and analysis. Common traits include short stature, macrodontia, and wide nasal bridge. Neurologic abnormalities and behavioral issues are widely present. Based on the data, recommendations for diagnostic and treatment approaches for KBG syndrome are provided.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Yee Nip, Sean R. Bennett, Andrew A. Smith, Takako Jones, Peter L. Jones, Stephen J. Tapscott
Summary: Human DUX4 and its mouse ortholog Dux are normally expressed in the early embryo and activate a portion of the first wave of zygotic gene expression. FSHD-causing mutations result in aberrant expression of DUX4 in skeletal muscle, leading to muscle pathology. This study identifies pig DUXC mRNA expressed in early development and shows that both pig DUXC and human DUX4 activate a similar early embryonic program in pig muscle cells, suggesting pig models for FSHD research.
HUMAN MOLECULAR GENETICS
(2023)
Article
Cell & Tissue Engineering
Monique M. A. de Almeida, Adrianne E. S. Watson, Sana Bibi, Nicole L. Dittmann, Kara Goodkey, Pedram Sharafodinzadeh, Danny Galleguillos, Maryam Nakhaei-Nejad, Jayasankar Kosaraju, Noam Steinberg, Beatrix S. Wang, Tim Footz, Fabrizio Giuliani, Jing Wang, Simonetta Sipione, Julia M. Edgar, Anastassia Voronova
Summary: Demyelinating disorders of the CNS can be improved by introducing fractalkine into the damaged murine brain, which promotes the formation of new oligodendrocytes, enhances remyelination, and reduces activation of microglia/macrophages. This pro-regenerative effect is achieved through increased OPC proliferation, OPC differentiation, and modulation of microglia biology. These findings highlight the potential of fractalkine as a therapeutic target for demyelinating disorders.
Article
Cell Biology
Andrew A. Smith, Yee Nip, Sean R. Bennett, Danielle C. Hamm, Richard J. L. F. Lemmers, Patrick J. van der Vliet, Manu Setty, Silvere M. van der Maarel, Stephen J. Tapscott
Summary: The transcription factor DUX4 plays a role in regulating the early embryonic stem cell program in cancer cells. It is expressed transiently in a small subset of cells, activating the gene expression program associated with early embryonic lineages while suppressing certain proteins. Changes in growth conditions or DNA damage can increase the expression of DUX4.
Article
Biochemistry & Molecular Biology
Danielle C. Hamm, Ellen M. Paatela, Sean R. Bennett, Chao-Jen Wong, Amy E. Campbell, Cynthia L. Wladyka, Andrew A. Smith, Sujatha Jagannathan, Andrew C. Hsieh, Stephen J. Tapscott
Summary: The transcription factor DUX4 regulates translation to change the cellular proteome, and its misexpression is associated with muscular dystrophy and immune evasion in cancer.
Article
Cell & Tissue Engineering
Nicole L. L. Dittmann, Pouria Torabi, Adrianne E. S. Watson, Scott A. A. Yuzwa, Anastassia Voronova
Summary: The mammalian adult brain contains two neural stem and precursor (NPC) niches: the subventricular zone [SVZ] lining the lateral ventricles and the subgranular zone [SGZ] in the hippocampus. SVZ NPCs are important for generating neurons, astrocytes, and oligodendrocytes, particularly for myelination. In this study, a streamlined protocol for culturing SVZ NPCs and OPCs was presented, and their purity, differentiation potential, and RNA-sequencing profiles were characterized. The results showed that primary neurosphere cells generated from postnatal and adult SVZ can differentiate into neurons, astrocytes, and oligodendrocytes at comparable levels, and SVZ OPCs can differentiate into oligodendrocytes in the absence and presence of thyroid hormone T3. Transcriptomic analysis revealed novel immune and signaling pathways specific to different ages and cell types.
STEM CELL REVIEWS AND REPORTS
(2023)
Article
Neurosciences
Yutong Li, Nicole Leanne Dittmann, Adrianne Eve Scovil Watson, Monique Marylin Alves de Almeida, Tim Footz, Anastassia Voronova
Summary: In this study, we found that exogenous Hepatoma Derived Growth Factor (HDGF) enhances the generation of oligodendrocytes from neural stem cells in the subventricular zone (SVZ) of postnatal mice. This effect is achieved by increasing the proliferation of neural stem cells and oligodendrocyte precursor cells (OPCs), as well as promoting OPC differentiation into oligodendrocytes, both in vitro and in vivo.