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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.
Kilian Mazaleyrat, Cherif Badja, Natacha Broucqsault, Raphaël Chevalier, Camille Laberthonnière, Camille Dion, Lyla Baldasseroni, Claire El-Yazidi, Morgane Thomas, Richard Bachelier, Alexandre Altié, Karine Nguyen, Nicolas Lévy, Jérôme D Robin, Frédérique Magdinier
Sep 09, 2020
Induced pluripotent stem cells (iPSCs) obtained by reprogramming primary somatic cells have revolutionized the fields of cell biology and disease modeling. However, the number protocols for generating mature muscle fibers with...
Duchenne muscular dystrophy Facio-Scapulo-Humeral Dystrophy Limb girdle muscular dystrophy Myotonic Dystrophy Z-lines contraction DIFFERENTIATION human induced pluripotent cells Motor Neurons Muscular Dystrophy Myoblasts myotubes satellite cells Cell Differentiation Humans Muscle Fibers Skeletal Muscular Dystrophy Duchenne Pluripotent Stem Cells
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bönnemann, J Paul Taylor
Jun 07, 2022
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA.
Massively parallel resequencing of mitochondrial DNA (mtDNA) has led to significant advances in the study of heteroplasmic mtDNA variants in health and disease, but confident resolution of very low-level variants (<2%...
Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.
Javier Torres-Torronteras, Raquel Cabrera-Pérez, Ferran Vila-Julià, Carlo Viscomi, Yolanda Cámara, Michio Hirano, Massimo Zeviani, Ramon Martí
Jul 04, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in TYMP, the gene encoding the enzyme thymidine phosphorylase (TP). TP dysfunction results in systemic accumulation of the noxious TP...
AAV MNGIE liver/metabolic Mitochondria thymidine phosphorylase Animals Carcinogenesis Deoxyuridine Dependovirus Female Gene Dosage Genetic Therapy Genetic Vectors Intestinal Pseudo-Obstruction Kaplan-Meier Estimate Liver Male Mice Mitochondria Liver Muscular Dystrophy Oculopharyngeal Ophthalmoplegia Thymidine Thymidine Phosphorylase Time Factors Transgenes
Growth pattern trajectories in boys with Duchenne muscular dystrophy.
Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni, Giovanni Baranello, NorthStar Network
Jan 28, 2022
OBJECTIVES: The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5-12 years with Duchenne muscular dystrophy (DMD). BACKGROUND: We...
EMQN best practice guidelines for genetic testing in dystrophinopathies.
Carl Fratter, Raymond Dalgleish, Stephanie K Allen, Rosário Santos, Stephen Abbs, Sylvie Tuffery-Giraud, Alessandra Ferlini
May 20, 2021
Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability of new...