Article
Clinical Neurology
Yo-Suke Nishii, Yu-ichi Noto, Rei Yasuda, Takamasa Kitaoji, Shinji Ashida, Eijirou Tanaka, Narihiro Minami, Ichizo Nishino, Toshiki Mizuno
Summary: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy commonly caused by the short expansion of a trinucleotide repeat in the PABPN1 gene. This case report describes a 78-year-old woman and her son with OPMD, diagnosed based on physical examination, muscle imaging, and genetic analysis. The presence of a PABPN1 point mutation in this Japanese case suggests a similar causative role in Asians as seen in Europeans.
Article
Biochemistry & Molecular Biology
Xiaokai Li, Zhining Zhong, Ruowei Zhang, Jiaman Zhang, Yu Zhang, Sha Zeng, Qinjiao Du, Haoming Wang, Songling Zhang, Lu Lu, Mingzhou Li, Keren Long
Summary: In this study, a muscular dystrophy mouse model was created by Ptrf knockout, and single-nucleus RNA sequencing was used to investigate the transcriptional changes in skeletal muscle. The study revealed significant alterations in the transcriptome of different types of muscle fibers and mononuclear cells in response to muscular dystrophy, providing valuable insights into the molecular mechanisms of muscular dystrophy.
Article
Biochemistry & Molecular Biology
Zsofia Onodi, Petra Lujza Szabo, Daniel Kucsera, Peter Pokreisz, Christopher Dostal, Karlheinz Hilber, Gavin Y. Oudit, Bruno K. Podesser, Peter Ferdinandy, Zoltan V. Varga, Attila Kiss
Summary: Duchenne muscular dystrophy (DMD) is a muscle wasting disease characterized by difficulty moving and premature death, mainly due to heart failure. Inflammation is thought to play a role in the disease progression, but the specific mechanisms are not well understood.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Yu Zhang, Takahiko Nishiyama, Eric N. Olson, Rhonda Bassel-Duby
Summary: Muscular dystrophies are a group of neuromuscular disorders with genetic causes that lead to muscle loss and degeneration. The CRISPR/Cas system offers a new path for treatment, potentially correcting genetic mutations permanently and benefiting skeletal muscle due to its post-mitotic and multinucleated features. However, challenges remain for translating CRISPR/Cas genome editing into a viable therapy for muscular dystrophies.
EXPERIMENTAL CELL RESEARCH
(2021)
Article
Multidisciplinary Sciences
Michael J. Stec, Qi Su, Christina Adler, Lance Zhang, David R. Golann, Naveen P. Khan, Lampros Panagis, S. Armando Villalta, Min Ni, Yi Wei, Johnathon R. Walls, Andrew J. Murphy, George D. Yancopoulos, Gurinder S. Atwal, Sandra Kleiner, Gabor Halasz, Mark W. Sleeman
Summary: Using spatial transcriptomics and single-cell RNA sequencing datasets, a high-resolution cellular and molecular spatial atlas of the severely dystrophic D2-mdx mouse model was generated. Clustering analysis revealed the nonuniform distribution of unique cell populations associated with multiple regenerative timepoints, faithfully recapitulating the asynchronous regeneration observed in human DMD muscle. Through spatiotemporal gene expression signatures, it was found that propagation of inflammatory and fibrotic signals from locally damaged areas contributes to widespread pathology and identifying targetable pathways for DMD therapy within discrete microenvironments. Overall, this spatial atlas of dystrophic muscle provides a valuable resource for studying DMD disease biology and therapeutic target discovery.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Cell Biology
Yu Zhang, Christopher Zeuthen, Carol Zhu, Fang Wu, Allison T. Mezzell, Thomas J. Whitlow, Hyojung J. Choo, Katherine E. Vest
Summary: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset dominant disease primarily affecting craniofacial muscles with no current pharmacologic treatments available. Using a mouse model, this study discovered pathology in pharyngeal muscles and satellite cells, suggesting aberrant gain of PABPN1 function contributes to the craniofacial pathology in OPMD.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biology
Arantxa Baraibar-Churio, Miriam Bobadilla, Florencio J. D. Machado, Neira Sainz, Carmen Roncal, Gloria Abizanda, Felipe Prosper, Josune Orbe, Ana Perez-Ruiz
Summary: The study reveals that MMP-10 plays a role in the progression of severe muscular dystrophy, and its loss affects the pathological condition of muscles, leading to reduced survival rates in aged mdx mice.
Article
Immunology
Laura Yedigaryan, Ester Martinez-Sarra, Giorgia Giacomazzi, Nefele Giarratana, Bernard K. van der Veer, Alessio Rotini, Silvia Querceto, Hanne Grosemans, Alvaro Cortes-Calabuig, Sara Salucci, Michela Battistelli, Elisabetta Falcieri, Rik Gijsbers, Mattia Quattrocelli, Kian Peng Koh, Liesbeth De Waele, Gunnar M. Buyse, Rita Derua, Maurilio Sampaolesi
Summary: This study identifies an extracellular vesicle-derived miRNA signature that enhances the myogenic potential of myogenic stem cells, leading to improvements in muscle degeneration and muscle wasting related diseases.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Nobuyuki Eura, Satoru Noguchi, Masashi Ogasawara, Theerawat Kumutpongpanich, Shinichiro Hayashi, Ichizo Nishino
Summary: This study identified a diagnostic muscle involvement pattern in OPDM reflecting its natural history, which will help in appropriate intervention based on the diagnosis of OPDM.
JOURNAL OF NEUROLOGY
(2023)
Review
Cell Biology
Shanshan Yao, Zihao Chen, Yuanyuan Yu, Ning Zhang, Hewen Jiang, Ge Zhang, Zongkang Zhang, Baoting Zhang
Summary: Duchenne muscular dystrophy is a lethal neuromuscular disorder caused by the absence of dystrophin protein, with no cure currently available. The standard of care involves glucocorticoids treatments for symptom relief. Therapeutic strategies focus on restoring dystrophin function and targeting downstream pathological changes like inflammation and fibrosis.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Health Care Sciences & Services
Charis L. Himeda, Peter L. Jones
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is a challenging genetic disease caused by epigenetic dysregulation. Therapeutic strategies for FSHD include small molecules, oligonucleotide therapeutics, and CRISPR-based approaches. This article evaluates the progress of each approach in preclinical studies.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Sport Sciences
Kathryn A. Vera, Mary Mcconville, Aline Glazos, William Stokes, Michael Kyba, Manda Keller-Ross
Summary: This study investigated the exercise intolerance in adults with facioscapulohumeral muscular dystrophy (FSHD) and explored the specific mechanisms contributing to exercise intolerance in FSHD. The results showed that FSHD patients had lower peak oxygen consumption (V?O-2peak) and lower power output at submaximal intensity. They also reported higher ratings of perceived exertion and dyspnea at absolute intensity. These findings suggest that muscle loss in FSHD is a significant factor contributing to exercise intolerance.
MEDICINE & SCIENCE IN SPORTS & EXERCISE
(2022)
Article
Biochemistry & Molecular Biology
Sharon Mordechay, Shaun Smullen, Paul Evans, Olga Genin, Mark Pines, Orna Halevy
Summary: The study showed that the enantiomers of halofuginone had differential effects on motor coordination and muscle histopathology in mdx mice, with (+)-halofuginone being the most effective. These findings suggest a potential use for (+)-halofuginone as a therapy for DMD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Physiology
Angus Lindsay, Bailey Kemp, Alexie A. Larson, Cory W. Baumann, Preston M. McCourt, John Holm, Peter Karachunski, Dawn A. Lowe, James M. Ervasti
Summary: The study found that levels of tetrahydrobiopterin were low in Duchenne muscular dystrophy patients and mdx mice, but could be restored to normal levels by overexpressing dystrophin. Tetrahydrobiopterin deficiency in mdx mice was likely due to lower levels of sepiapterin reductase in skeletal muscle. Supplementation with tetrahydrobiopterin improved skeletal muscle function and cardiac pathology in mdx mice.
Article
Immunology
Brigida Boccanegra, Ornella Cappellari, Paola Mantuano, Daniela Trisciuzzi, Antonietta Mele, Lisamaura Tulimiero, Michela De Bellis, Santa Cirmi, Francesca Sanarica, Alessandro Giovanni Cerchiara, Elena Conte, Ramona Meanti, Laura Rizzi, Elena Bresciani, Severine Denoyelle, Jean-Alain Fehrentz, Gabriele Cruciani, Orazio Nicolotti, Antonella Liantonio, Antonio Torsello, Annamaria De Luca
Summary: Growth hormone secretagogues (GHSs) have multiple actions including activation of GHS-receptor 1a, control of inflammation and metabolism, enhancement of GH/IGF-1-mediated myogenesis, and inhibition of angiotensin-converting enzyme. This study provides preclinical evidence for the potential benefits of GHSs in Duchenne muscular dystrophy (DMD). The results show that GHSs can improve muscle strength, reduce fibrosis-related parameters, and improve muscle metabolism in mdx mice, suggesting that GHSs have potential as therapeutic agents for DMD.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Ayan Banerjee, Brittany L. Phillips, Quidong Deng, Nicholas T. Seyfried, Grace K. Pavlath, Katherine E. Vest, Anita H. Corbett
JOURNAL OF BIOLOGICAL CHEMISTRY
(2019)
Article
Multidisciplinary Sciences
Brenda Janice Sanchez, Anne-Marie K. Tremblay, Jean-Philippe Leduc-Gaudet, Derek T. Hall, Erzsebet Kovacs, Jennifer F. Ma, Souad Mubaid, Patricia L. Hallauer, Brittany L. Phillips, Katherine E. Vest, Anita H. Corbett, Dimitris L. Kontoyiannis, Sabah N. A. Hussain, Kenneth E. M. Hastings, Sergio Di Marco, Imed-Eddine Gallouzi
NATURE COMMUNICATIONS
(2019)
Meeting Abstract
Biochemistry & Molecular Biology
Anita Corbett, Sara Leung, Maria Sterrett, Julia de Amorim, Liz Enyenihi, Derrick Morton, Ambro van Hoof, Milo Fasken
Meeting Abstract
Biochemistry & Molecular Biology
Julia de Amorim, Sara Leung, Ambro van Hoof, Anita Corbett
Article
Biochemistry & Molecular Biology
Anne Slavotinek, Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman, Jennifer E. Hurtig, Liz Enyenihi, Maria C. Sterrett, Sara W. Leung, Dina Schneidman-Duhovny, Juvianee Estrada-Veras, Jacque L. Duncan, Charlotte A. Haaxma, Erik-Jan Kamsteeg, Vivian Xia, Daniah Beleford, Yue Si, Ganka Douglas, Hans Einar Treidene, Ambro van Hoof, Milo B. Fasken, Anita H. Corbett
HUMAN MOLECULAR GENETICS
(2020)
Article
Cell Biology
Allison Lange, Milo B. Fasken, Murray Stewart, Anita H. Corbett
Article
Genetics & Heredity
Derrick J. Morton, Binta Jalloh, Lily Kim, Isaac Kremsky, Rishi J. Nair, Khuong B. Nguyen, J. Christopher Rounds, Maria C. Sterrett, Brianna Brown, Thalia Le, Maya C. Karkare, Kathryn D. McGaughey, Shaoyi Sheng, Sara W. Leung, Milo B. Fasken, Kenneth H. Moberg, Anita H. Corbett
Article
Genetics & Heredity
Wei-Hsuan Lee, Edwin Corgiat, J. Christopher Rounds, Zenyth Shepherd, Anita H. Corbett, Kenneth H. Moberg
G3-GENES GENOMES GENETICS
(2020)
Article
Biochemistry & Molecular Biology
Samih Alqawlaq, Izhar Livne-Bar, Declan Williams, Joseph D'Ercole, Sara W. Leung, Darren Chan, Alessandra Tuccitto, Alessandro Datti, Jeffrey L. Wrana, Anita H. Corbett, Gerold Schmitt-Ulms, Jeremy M. Sivak
Summary: Astrocytes secrete signals that support neuronal survival by protecting against neurotoxicity, oxidative stress, and apoptotic cascades, with PI3K identified as a central player in this neuroprotective process. Proteomic analysis revealed PI3K interactors, including PDGFRA, ZC3H14, and THOC1, with ZC3H14 playing a crucial role in promoting PDGF-induced neuroprotection and presenting a potential strategy for astrocyte-secreted prosurvival signals.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Biochemistry & Molecular Biology
Jennifer M. Spangle, Homa Ghalei, Anita H. Corbett
Summary: The ASBMB Leadership Awards were introduced in 2020 to recognize individuals dedicated to advancing women's careers in biochemistry and molecular biology, while also excelling in research, discovery, and service. The commentary focuses on the importance of mentoring and diverse expertise for success in STEM careers, beyond formal mentoring committees.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Biochemistry & Molecular Biology
Edwin B. Corgiat, Sara M. List, J. Christopher Rounds, Anita H. Corbett, Kenneth H. Moberg
Summary: The study identified roles for Nab2 in controlling the dynamic growth of axons in the developing brain mushroom bodies and regulating abundance of a small fraction of brain proteome. The Nab2-regulated brain proteins have functions related to brain morphogenesis, neuroblast proliferation, circadian sleep/wake cycles, and synaptic development.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2021)
Article
Genetics & Heredity
Edwin B. Corgiat, Sara M. List, J. Christopher Rounds, Dehong Yu, Ping Chen, Anita H. Corbett, Kenneth H. Moberg
Summary: Nab2 RNA-binding protein restricts dendrite growth and branching in Drosophila sensory neurons and is linked to the planar cell polarity pathway.
G3-GENES GENOMES GENETICS
(2022)
Editorial Material
Biology
Karena H. Nguyen, Kyle Thomas, Robert C. Liu, Anita H. Corbett
Summary: This article presents specific approaches utilized in a recent faculty search process to contribute to an inclusive hiring process, while also addressing the challenges and opportunities presented by a global pandemic. The detailed description of each step in the search provides guidance for institutions planning their own faculty searches and insights for applicants in understanding the process.
COMMUNICATIONS BIOLOGY
(2022)
Article
Genetics & Heredity
Maria C. Sterrett, Daniela Farchi, Sarah E. Strassler, Lawrence H. Boise, Milo B. Fasken, Anita H. Corbett
Summary: A rare missense mutation in the EXOSC2 gene was identified in a multiple myeloma patient, which affects the function of the RNA exosome and provides insights into the critical interaction between the RNA exosome and Mtr4.
G3-GENES GENOMES GENETICS
(2023)
Editorial Material
Biochemistry & Molecular Biology
Anita H. Corbett, Milo B. Fasken
Summary: Akey et al. utilize complementary experimental approaches and AI-based structure prediction to uncover new details of the yeast nuclear pore complex structure, providing crucial insights into its evolution, assembly, and nucleocytoplasmic transport mechanisms.