Article
Clinical Neurology
Nicolas Pons, Gorka Fernandez-Eulate, Antoine Pegat, Marie Theaudin, Regis Guieu, Paolo Ripellino, Manon Devedjian, Patrick Mace, Marion Masingue, Sarah Leonard-Louis, Philipe Petiot, Pauline Roche, Emilien Bernard, Francoise Bouhour, Jean-Marc Good, Annie Verschueren, Aude-Marie Grapperon, Emmanuelle Salort, Anais Grosset, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Anne-Laure Bedat-Millet, Ariane Choumert, Anne Barnier, Ghassen Hamdi, Gaetan Lesca, Fabienne Prieur, Arnaud Bruneel, Philippe Latour, Tanya Stojkovic, Shahram Attarian, Nathalie Bonello-Palot
Summary: This study described the phenotype and genotype landscapes of SORD-related peripheral neuropathies in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants. The results showed homogeneous clinical presentation and significantly elevated sorbitol levels in these patients, with both diagnostic and potential therapeutic implications.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Daniel Natera-de Benito, Sergio Aguilera-Albesa, Laura Costa-Comellas, Mar Garcia-Romero, Maria Concepcion Miranda-Herrero, Julia Rubies Olives, Oscar Garcia-Campos, Elena Martinez del Val, Maria Josefa Martinez Garcia, Inmaculada Medina Martinez, Ramon Cancho-Candela, Miguel A. Fernandez-Garcia, Samuel Ignacio Pascual-Pascual, David Gomez-Andres, Andres Nascimento
Summary: This study described the clinical characteristics and outcomes of COVID-19 in 29 children with neuromuscular disorders, showing that no severe complications were observed and the majority of cases were asymptomatic or mild.
JOURNAL OF NEUROLOGY
(2021)
Review
Endocrinology & Metabolism
Cunqing Yang, Xuefei Zhao, Xuedong An, Yuehong Zhang, Wenjie Sun, Yuqing Zhang, Yingying Duan, Xiaomin Kang, Yuting Sun, Linlin Jiang, Fengmei Lian
Summary: Diabetic peripheral neuropathy is a chronic metabolic disease that seriously affects patients' quality of life and can lead to amputation and neuropathic pain. Current treatment options only address symptoms and do not reverse nerve damage. Understanding the underlying mechanisms is crucial for prevention and the development of new therapies.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Zhongqiang Qiu, Aileen Park, Lianzijun Wang, Rachel Wilsey, Myeongwoo Lee
Summary: UNC-52/perlecan is a basement membrane proteoglycan essential for muscle cell attachment in C. elegans. Mutations in the RGD motif of UNC-52/perlecan affect actin filaments and integrin localization, leading to developmental defects and paralysis. The RGD motif is a potential conserved cell-binding motif in invertebrates.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Cardiac & Cardiovascular Systems
Enrico Bugiardini, Andreia M. Nunes, Ariany Oliveira-Santos, Marisela Dagda, Tatiana M. Fontelonga, Pamela Barraza-Flores, Alan M. Pittman, Jasper M. Morrow, Matthew Parton, Henry Houlden, Perry M. Elliott, Petros Syrris, Roderick P. Maas, Mohammed M. Akhtar, Benno Kusters, Joost Raaphorst, Meyke Schouten, Erik-Jan Kamsteeg, Baziel van Engelen, Michael G. Hanna, Rahul Phadke, Luis R. Lopes, Emma Matthews, Dean J. Burkin
Summary: This study describes the pathological changes caused by ITGA7 mutations in skeletal and cardiac muscle. Patients exhibited cardiac dysfunction and respiratory insufficiency, and mouse experiments also showed abnormalities related to the heart and muscles. The results suggest a critical role for integrin alpha 7 beta 1 in cardiac function.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cell Biology
Samarpita Banerjee, Wen-Cheng Lo, Payel Majumder, Debleena Roy, Mimosa Ghorai, Nusrat K. Shaikh, Nishi Kant, Mahipal S. Shekhawat, Vijaykumar Shivaji Gadekar, Suchanda Ghosh, Ercan Bursal, Faris Alrumaihi, Navneet Kumar Dubey, Sanjay Kumar, Danish Iqbal, Wael Alturaiki, Vijay Jagdish Upadhye, Niraj Kumar Jha, Abhijit Dey, Rohit Gundamaraju
Summary: Metastasis is a major challenge in cancer therapy, and the epithelial-mesenchymal transition plays a critical role in this process. Collagen, laminin, and integrin are important components involved in tumor cell metastasis and can also serve as biomarkers for metastatic cells. This review summarizes the current knowledge of therapeutics in preclinical or clinical stages.
EUROPEAN JOURNAL OF CELL BIOLOGY
(2022)
Article
Cell Biology
Brian J. Paleo, Kevin E. McElhanon, Hannah R. Bulgart, Kassidy K. Banford, Eric X. Beck, Kristina M. Sattler, Briana N. Goines, Shelby L. Ratcliff, Kelly E. Crowe, Noah Weisleder
Summary: TRIM72/MG53-mediated membrane repair can partially compensate for sarcolemmal fragility in DMD and the loss of membrane repair leads to increased pathology.
Article
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Prashant Monian, Chikdu Shivalila, Genliang Lu, Mamoru Shimizu, David Boulay, Karley Bussow, Michael Byrne, Adam Bezigian, Arindom Chatterjee, David Chew, Jigar Desai, Frank Favaloro, Jack Godfrey, Andrew Hoss, Naoki Iwamoto, Tomomi Kawamoto, Jayakanthan Kumarasamy, Anthony Lamattina, Amber Lindsey, Fangjun Liu, Richard Looby, Subramanian Marappan, Jake Metterville, Ronelle Murphy, Jeff Rossi, Tom Pu, Bijay Bhattarai, Stephany Standley, Snehlata Tripathi, Hailin Yang, Yuan Yin, Hui Yu, Cong Zhou, Luciano H. Apponi, Pachamuthu Kandasamy, Chandra Vargeese
Summary: The study describes chemically modified oligonucleotides called AIMers that can efficiently and specifically direct RNA-editing enzymes to edit endogenous transcripts. Fully chemically modified AIMers with chimeric backbones showed enhanced potency and editing efficiency compared to uniformly modified AIMers in vitro. In vivo, AIMers targeted to hepatocytes achieved significant editing without off-target effects in non-human primate liver. This study demonstrates the potential of AIMers for therapeutic applications.
NATURE BIOTECHNOLOGY
(2022)
Article
Medicine, Research & Experimental
Cedric Happi Mbakam, Joel Rousseau, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Jacques P. Tremblay
Summary: In this study, researchers used CRISPR-Cas9 prime editing technology to correct a mutation in the DMD gene, resulting in improved editing efficiency and restoration of dystrophin protein expression. Optimization of the reverse transcription template sequence led to a significant increase in the editing percentage of the target nucleotide.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Review
Biochemistry & Molecular Biology
Justin Cohen, Alec DeSimone, Monkol Lek, Angela Lek
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is a common type of muscular dystrophy, with limited therapeutic development due to complex genetics and poor mechanistic understanding; however, targeting DUX4 has shown promise in advancing clinical trials towards molecular therapies. The field is now poised to accelerate therapeutic discovery and testing with combined advances in FSHD research.
TRENDS IN MOLECULAR MEDICINE
(2021)
Review
Biology
Katarzyna Jadczyk-Sorek, Wojciech Garczorz, Beata Bubala-Stachowicz, Tomasz Francuz, Ewa Mrukwa-Kominek
Summary: Based on previous studies, this article provides a detailed assessment of the levels of matrix metalloproteinases (MMPs) in patients with recurrent corneal erosions (RCE) and their possible contribution to the development of corneal epithelial basement membrane dystrophy. The involvement of MMPs in the pathogenesis of corneal diseases is discussed, particularly their impact on the development of corneal epithelial basement membrane dystrophy. The authors hypothesize that the accumulation and activation of MMPs in the basal layers of the corneal epithelium may lead to basement membrane degradation and the development of lesions.
Article
Chemistry, Medicinal
Lizzia Raffaghello, Elisa Principi, Serena Baratto, Chiara Panicucci, Sara Pintus, Francesca Antonini, Genny Del Zotto, Andrea Benzi, Santina Bruzzone, Paolo Scudieri, Carlo Minetti, Elisabetta Gazzerro, Claudio Bruno
Summary: In this study, the therapeutic effectiveness of a selective P2X7 purinoreceptor antagonist, A438079, was evaluated in limb-girdle muscular dystrophy R3. The results showed that the P2X7 antagonist improved clinical parameters, reduced muscle inflammation and fibrosis, and upregulated immunosuppressive regulatory T cells.
Article
Biology
Hidehiko Okuma, Jeffrey M. Hord, Ishita Chandel, David Venzke, Mary E. Anderson, Ameya S. Walimbe, Soumya Joseph, Zeita Gastel, Yuji Hara, Fumiaki Saito, Kiichiro Matsumura, Kevin P. Campbell
Summary: Post-translational processing and O-glycosylation are critical for the function of Dystroglycan (DG) as a receptor for extracellular matrix (ECM) proteins. Our study demonstrates the importance of protein O-mannose kinase (POMK) and alpha-DGN in the synthesis of matriglycan by LARGE1.
Article
Biochemistry & Molecular Biology
Aleksandr Mironov, Matthew Fisher, Priya Narayanan, Randa Elsayed, Melis Karabulutoglu, Nasreen Akhtar
Summary: Cell turnover is vital for tissue homeostasis and reproductive cycle, and Rac1 controls cell turnover in the mammary gland. Lack of Rac1 delayed alveolar regression, resulting in increased cell turnover. Hyperproliferation of progenitor cells and accelerated cell death were observed in the absence of Rac1, linked to macrophageal inflammation and impaired autophagic cell death. Mammary gland reversibility was also impaired without Rac1, leading to failure of lactation upon resuckling.
Article
Urology & Nephrology
Steven D. Funk, Raymond H. Bayer, Andrew F. Malone, Karen K. McKee, Peter D. Yurchenco, Jeffrey H. Miner
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2018)
Article
Biochemistry & Molecular Biology
Peter D. Yurchenco, Karen K. McKee, Judith R. Reinhard, Markus A. Ruegg
Article
Biochemistry & Molecular Biology
Pradeep K. Singh, Masanori Kawasaki, Hanna E. Berk-Rauch, Goushi Nishida, Takeshi Yamasaki, Michael A. Foley, Erin H. Norris, Sidney Strickland, Kazuyoshi Aso, Hyung Jin Ahn
Article
Neurosciences
Dorit Farfara, Emily Feierman, Allison Richards, Alexey S. Revenko, Robert A. MacLeod, Erin H. Norris, Sidney Strickland
Article
Neurosciences
Jean C. Cruz Hernandez, Oliver Bracko, Calvin J. Kersbergen, Victorine Muse, Mohammad Haft-Javaherian, Maxime Berg, Laibaik Park, Lindsay K. Vinarcsik, Iryna Ivasyk, Daniel A. Rivera, Yiming Kang, Marta Cortes-Canteli, Myriam Peyrounette, Vincent Doyeux, Amy Smith, Joan Zhou, Gabriel Otte, Jeffrey D. Beverly, Elizabeth Davenport, Yohan Davit, Charles P. Lin, Sidney Strickland, Costantino Iadecola, Sylvie Lorthois, Nozomi Nishimura, Chris B. Schaffer
NATURE NEUROSCIENCE
(2019)
Editorial Material
Neurosciences
Hyung Jin Ahn, Sarah K. Baker, Erin H. Norris, Sidney Strickland
Article
Immunology
Sarah K. Baker, Zu-Lin Chen, Erin H. Norris, Sidney Strickland
JOURNAL OF NEUROINFLAMMATION
(2019)
Article
Cardiac & Cardiovascular Systems
Marta Cortes-Canteli, Anna Kruyer, Irene Fernandez-Nueda, Ana Marcos-Diaz, Carlos Ceron, Allison T. Richards, Odella C. Jno-Charles, Ignacio Rodriguez, Sergio Callejas, Erin H. Norris, Javier Sanchez-Gonzalez, Jesus Ruiz-Cabello, Borja Ibanez, Sidney Strickland, Valentin Fuster
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2019)
Article
Multidisciplinary Sciences
Zu-Lin Chen, Pradeep Singh, Jyen Wong, Katharina Horn, Sidney Strickland, Erin H. Norris
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2019)
Review
Immunology
Sarah K. Baker, Sidney Strickland
JOURNAL OF EXPERIMENTAL MEDICINE
(2020)
Article
Hematology
Erica M. Sparkenbaugh, Malgorzata Kasztan, Michael W. Henderson, Patrick Ellsworth, Parker Ross Davis, Kathryn J. Wilson, Brandi Reeves, Nigel S. Key, Sidney Strickland, Keith McCrae, David M. Pollock, Rafal Pawlinski
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2020)
Article
Hematology
Zu-Lin Chen, Pradeep Kumar Singh, Katharina Horn, Sidney Strickland, Erin H. Norris
Summary: Alzheimer's disease is a neurodegenerative disorder that leads to dementia. Inhibiting the activation of the plasma contact activation system may be beneficial for Alzheimer's patients, and a potential strategy has been proposed.
Article
Biochemistry & Molecular Biology
Karen K. McKee, Peter D. Yurchenco
Summary: Null mutations of the Lama2 gene lead to a severe congenital muscular dystrophy and associated neuropathy. Compensation occurs through a replacement by the Lma4 subunit, but the dystrophic phenotype is not fully rescued. Transgenes expressing synthetic laminin-binding proteins improve survival and muscle function but cannot prevent hindlimb paresis.
Article
Biochemistry & Molecular Biology
Karen K. McKee, Erhard Hohenester, Maya Aleksandrova, Peter D. Yurchenco
Summary: Laminin polymerization is a crucial step in basement membrane assembly, involving the binding of alpha, beta, and gamma N-terminal LN domains to form a polymer node. The study examined the assembly and organization of laminin-111 LN-LEa segments, revealing triskelion-like structures and the pairing of LN and LEa domains. Single amino acid substitutions were introduced to analyze the impact of mutations on beta-gamma dimerization and alpha-dependent trimerization, unveiling specific regions critical for each process.
Article
Hematology
Georgette L. Suidan, Pradeep K. Singh, Sunita Patel-Hett, Zu-Lin Chen, Dmitri Volfson, Hitomi Yamamoto-Imoto, Erin H. Norris, Robert D. Bell, Sidney Strickland