Article
Multidisciplinary Sciences
Michael Stirm, Bachuki Shashikadze, Andreas Blutke, Elisabeth Kemter, Andreas Lange, Jan B. Stoeckl, Florian Jaudas, Laeticia Laane, Mayuko Kurome, Barbara Kessler, Valeri Zakhartchenko, Andrea Baehr, Nikolai Klymiuk, Hiroshi Nagashima, Maggie C. Walter, Wolfgang Wurst, Christian Kupatt, Thomas Froehlich, Eckhard Wolf
Summary: Skipping DMD exon 51 can restore dystrophin expression and improve cardiac function in DMD patients and animal models.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biochemistry & Molecular Biology
Elena Gargaun, Sestina Falcone, Guilhem Sole, Julien Durigneux, Andoni Urtizberea, Jean Marie Cuisset, Sofia Benkhelifa-Ziyyat, Laura Julien, Anne Boland, Florian Sandron, Vincent Meyer, Jean Francois Deleuze, David Salgado, Jean-Pierre Desvignes, Christophe Beroud, Anatole Chessel, Alexia Blesius, Martin Krahn, Nicolas Levy, France Leturcq, France Pietri-Rouxel
Summary: This study found that long noncoding RNAs play important roles in Duchenne and Becker muscular dystrophy, particularly in regulating myocyte proliferation and differentiation with potential therapeutic implications. The research suggests that lncRNA44s2 may serve as an accelerator in muscle differentiation process and is associated with a favorable clinical phenotype.
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)
Article
Medicine, Research & Experimental
Flavien Bizot, Remko Goossens, Thomas Tensorer, Sergei Dmitriev, Luis Garcia, Annemieke Aartsma-Rus, Pietro Spitali, Aurelie Goyenvalle
Summary: This study found that histone deacetylase inhibitors can correct the imbalance of transcripts in patients with Duchenne muscular dystrophy, and the combined therapy with antisense oligonucleotides can significantly improve the restoration levels of dystrophin.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Health Care Sciences & Services
Saeed Anwar, Merry He, Kenji Rowel Q. Lim, Rika Maruyama, Toshifumi Yokota
Summary: This study found that five exons are associated with significantly milder phenotypes, while most exon skip-equivalent in-frame deletions were associated with a significantly milder phenotype compared to corresponding exon skip-amenable out-of-frame mutations. This highlights the importance of genotype-phenotype correlation studies in the rational design of exon-skipping therapies.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Multidisciplinary Sciences
Pablo Beckers, Jean-Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, Laurent Servais, Francois Boemer
Summary: This study developed a highly sensitive method to identify DMD patients carrying deletions that are rescuable by exon-skipping treatment. By analyzing the exons flanking the exon-skipping targets, patients who could benefit from exon-skipping treatment can be identified early on.
SCIENTIFIC REPORTS
(2021)
Article
Neurosciences
Tavisha Dama, Pratiksha Chheda, Shweta Limaye, Shailesh Pande, Sushant Vinarkar
Summary: This study revealed that variations at the multiplex ligation-dependent probe amplification (MLPA) probe binding site can lead to false positive results of single exon deletion in the detection of Duchenne muscular dystrophy/Becker muscular dystrophy. Therefore, cautious evaluation of single exon deletions is necessary, and the pathogenicity of any point mutations needs to be determined.
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
Medicine, Research & Experimental
Tabatha R. Simmons, Tatyana A. Vetter, Nianyuan Huang, Adeline Vulin-Chaffiol, Nicolas Wein, Kevin M. Flanigan
Summary: This study developed an adeno-associated virus-based exon-skipping approach targeted at duplications of exon 2 in the DMD gene, which represent 10% of all DMD duplication mutations. Deletion of exon 2 results in the utilization of an internal ribosome entry site in exon 5, allowing translation of a highly protective dystrophin protein, providing a wide therapeutic window for treatment. Both intramuscular and systemic administration of this vector in the Dup2 mouse model resulted in robust dystrophin expression and correction of muscle physiologic defects, allowing dose escalation to establish a putative minimal efficacious dose for a human clinical trial.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2021)
Article
Pharmacology & Pharmacy
Zeren Sun, Dengqiu Xu, Lei Zhao, Xihua Li, Sijia Li, Xiaofei Huang, Chunjie Li, Lixin Sun, Bing Liu, Zhenzhou Jiang, Luyong Zhang
Summary: The study found that fenofibrate can promote the differentiation of myofibers by down-regulating the expression of myostatin protein in myoblasts, significantly improving muscle function and reducing muscle damage in mdx mice, along with anti-inflammatory effects.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Medicine, Research & Experimental
Matthew Rok, Tatianna Wai Ying Wong, Eleonora Maino, Abdalla Ahmed, Grace Yang, Elzbieta Hyatt, Kyle Lindsay, Sina Fatehi, Ryan Marks, Paul Delgado-Olguin, Evgueni A. Ivakine, Ronald D. Cohn
Summary: This study demonstrates that intravenous delivery of a single-cut CRISPR-Cas9-mediated exon skipping therapy can prevent heart dysfunction in DMD in vivo.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2023)
Article
Biotechnology & Applied Microbiology
Nicolas Wein, Diane M. Dunn, Megan A. Waldrop, Liubov Gushchina, Emma C. Frair, Robert B. Weiss, Kevin M. Flanigan
Summary: Exon skipping therapies for Duchenne muscular dystrophy can be induced by modified U7snRNA delivered by an AAV vector, resulting in highly efficient exclusion of targeted exons. The study demonstrated the specificity and effectiveness of this approach in correcting gene expression errors, with minimal off-target splicing effects detected through RNA-seq analysis.
HUMAN GENE THERAPY
(2021)
Article
Clinical Neurology
Craig M. Zaidman, Crystal M. Proud, Craig M. Mcdonald, Kelly J. Lehman, Natalie L. Goedeker, Stefanie Mason, Alexander P. Murphy, Maitea Guridi, Shufang Wang, Carol Reid, Eddie Darton, Christoph Wandel, Sarah Lewis, Jyoti Malhotra, Danielle A. Griffin, Rachael A. Potter, Louise R. Rodino-Klapac, Jerry R. Mendell
Summary: The study ENDEAVOR demonstrated that the commercial process delandistrogene moxeparvovec is safe and effective in improving micro-dystrophin expression in patients with Duchenne muscular dystrophy. After 12 weeks of treatment, significant improvements were observed in micro-dystrophin expression, as well as patient's functional outcomes and quality of life at 1 year.
ANNALS OF NEUROLOGY
(2023)
Review
Cell Biology
Elisa Domi, Malvina Hoxha, Emanuela Prendi, Bruno Zappacosta
Summary: Duchenne muscular dystrophy is a muscular disease with no cure, and SIRT1 has been identified as a potential therapeutic target for the condition. Activation of SIRT1 improves muscle function, while its inhibition leads to muscle fragility.
Article
Biochemistry & Molecular Biology
Rou Xiao, Miaojin Zhou, Peiyun Wang, Baitao Zeng, Lingqian Wu, Zhiqing Hu, Desheng Liang
Summary: This study demonstrated the successful restoration of full-length dystrophin in iPSCs and iCMs through targeted exon addition using CRISPR/Cas9 technology, showing potential clinical prospects for DMD gene therapy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Dania Wojtal, Dwi U. Kemaladewi, Zeenat Malam, Sarah Abdullah, Tatianna W. Y. Wong, Elzbieta Hyatt, Zahra Baghestani, Sergio Pereira, James Stavropoulos, Vincent Mouly, Kamel Mamchaoui, Francesco Muntoni, Thomas Voit, Hernan D. Gonorazky, James J. Dowling, Michael D. Wilson, Roberto Mendoza-Londono, Evgueni A. Ivakine, Ronald D. Cohn
AMERICAN JOURNAL OF HUMAN GENETICS
(2016)
Article
Biochemistry & Molecular Biology
Dwi U. Kemaladewi, Eleonora Maino, Elzbieta Hyatt, Huayun Hou, Maylynn Ding, Kara M. Place, Xinyi Zhu, Prabhpreet Bassi, Zahra Baghestani, Amit G. Deshwar, Daniele Merico, Hui Y. Xiong, Brendan J. Frey, Michael D. Wilson, Evgueni A. Ivakine, Ronald D. Cohn
Article
Biochemistry & Molecular Biology
D. U. Kemaladewi, J. S. Benjamin, E. Hyatt, E. A. Ivakine, R. D. Cohn
HUMAN MOLECULAR GENETICS
(2018)
Article
Genetics & Heredity
Dwi U. Kemaladewi, Willem M. H. Hoogaars, Sandra H. van Heiningen, Samuel Terlouw, David J. J. de Gorter, Johan T. den Dunnen, Gert Jan B. van Ommen, Annemieke Aartsma-Rus, Peter ten Dijke, Peter A. C. 't Hoen
BMC MEDICAL GENOMICS
(2011)
Article
Biochemistry & Molecular Biology
Dwi U. Kemaladewi, David J. J. de Gorter, Annemieke Aartsma-Rus, Gert-Jan van Ommen, Peter ten Dijke, Peter A. C. 't Hoen, Willem M. Hoogaars
Article
Neurosciences
SongTing Shi, Willem M. H. Hoogaars, David J. J. de Gorter, Sandra H. van Heiningen, Herbert Y. Lin, Charles C. Hong, Dwi U. Kernaladewi, Annemieke Aartsma-Rus, Peter ten Dijke, Peter A. C. 't Hoen
NEUROBIOLOGY OF DISEASE
(2011)
Article
Multidisciplinary Sciences
SongTing Shi, Jie Cai, David J. J. de Gorter, Gonzalo Sanchez-Duffhues, Dwi U. Kemaladewi, Willem M. H. Hoogaars, Annemieke Aartsma-Rus, Peter A. C. 't Hoen, Peter ten Dijke
Article
Medicine, Research & Experimental
Sofia Karkampouna, Boudewijn P. T. Kruithof, Peter Kloen, Miryam C. Obdeijn, Annelies M. A. van der Laan, Hans J. Tanke, Dwi U. Kemaladewi, Willem M. H. Hoogaars, Peter A. C. 't Hoen, Annemieke Aartsma-Rus, Ian M. Clark, Peter ten Dijke, Marie-Jose Goumans, Marianna Kruithof-de Julio
MOLECULAR THERAPY-NUCLEIC ACIDS
(2014)
Article
Medicine, Research & Experimental
Dwi U. Kemaladewi, Svitlana Pasteuning, Joke W. van der Meulen, Sandra H. van Heiningen, Gert-Jan van Ommen, Peter ten Dijke, Annemieke Aartsma-Rus, Peter A. C. 't Hoen, Willem M. Hoogaars
MOLECULAR THERAPY-NUCLEIC ACIDS
(2014)
Article
Genetics & Heredity
Hernan D. Gonorazky, Sergey Naumenko, Arun K. Ramani, Viswateja Nelakuditi, Pouria Mashouri, Peiqui Wang, Dennis Kao, Krish Ohri, Senthuri Viththiyapaskaran, Mark A. Tarnopolsky, Katherine D. Mathews, Steven A. Moore, Andres N. Osorio, David Villanova, Dwi U. Kemaladewi, Ronald D. Cohn, Michael Brudno, James J. Dowling
AMERICAN JOURNAL OF HUMAN GENETICS
(2019)
Article
Multidisciplinary Sciences
Dwi U. Kemaladewi, Prabhpreet S. Bassi, Steven Erwood, Dhekra Al-Basha, Kinga I. Gawlik, Kyle Lindsay, Elzbieta Hyatt, Rebekah Kember, Kara M. Place, Ryan M. Marks, Madeleine Durbeej, Steven A. Prescott, Evgueni A. Ivakine, Ronald D. Cohn
Review
Biochemistry & Molecular Biology
Dwi U. Kemaladewi, Ronald D. Cohn
EMERGING TOPICS IN LIFE SCIENCES
(2019)
Review
Clinical Neurology
Dwi U. Kemaladewi, Peter A. 't Hoen, Peter ten Dijke, Gert Jan van Ommen, Willem M. Hoogaars
