Results 71 to 80 of about 1,276 (185)

Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides

EBioMedicine, 2020
Background: Preclinical studies have shown that gene therapy is a feasible approach to treat mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Ferran Vila-Julià, Raquel Cabrera-Pérez, Yolanda Cámara, Miguel Molina-Berenguer, Silvia Lope-Piedrafita, Michio Hirano, Federico Mingozzi, Javier Torres-Torronteras, Ramon Martí   +8 more
doaj   +1 more source

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

Gene therapy for mitochondrial disorders

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 145-175, January 2024.
Abstract In this review, we detail the current state of application of gene therapy to primary mitochondrial disorders (PMDs). Recombinant adeno‐associated virus‐based (rAAV) gene replacement approaches for nuclear gene disorders have been undertaken successfully in more than ten preclinical mouse models of PMDs which has been made possible by the ...
Nandaki Keshavan, Michal Minczuk, Carlo Viscomi, Shamima Rahman   +3 more
wiley   +1 more source

The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene

Molecular Genetics and Metabolism Reports, 2016
m.3291T>C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the
E. Keilland, C.A. Rupar, Asuri N. Prasad, K.Y. Tay, A. Downie, C. Prasad   +5 more
doaj   +1 more source

Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments

Neurogastroenterology &Motility, Volume 36, Issue 1, January 2024.
Abstract Chronic intestinal pseudo‐obstruction is a rare and heterogeneous syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine with air/fluid levels in the absence of any mechanical occlusive lesion.
Guido Basilisco, Margherita Marchi, Marina Coletta   +2 more
wiley   +1 more source

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) : a consensus conference proposal for a standardized approach

, 2010
Allogeneic hematopoietic SCT (HSCT) has been proposed as a treatment for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). HSCT has been performed in nine patients using different protocols with varying success.
Schüpbach, W.M.M., Hirano, M, Fay, K., Mattle, Heinrich P., Gratwohl, Alois, Kappeler, L., Fay, K, Mandel, H, Krähenbühl, Stephan, Sue, C. M., Halter, J, Kappeler, L, J. Halter, Orchard, Kim, Lehmann, T, Sue, Carolyn M., Gratwohl, A., R. Marti, Elhasid, R., Lehmann, T., K. Fay, Hammans, S, Kappeler, Liliane, Casali, C, D. Savage, Savage, D, I. Illa, Casali, C., CASALI, Carlo, Savage, D., Gratwohl, A, Elhasid, R, Valcarcel, D., Mattle, H., H. Mattle, Savage, David, Schüpbach, W. M. Michael, Mattle, H, Illa, I, Valcarcel, David, Elhasid, Ronit, Marti, Ramon, S. Hammans, Krähenbühl, S, T. Lehmann, Marti, R, S. Krahenbuhl, L. Kappeler, C. M. Sue, K. Orchard, D. Valcarcel, A. Gratwohl, Hirano, M., Schüpbach, W M M, H. Mandel, Valcarcel, D, Krähenbühl, S., Orchard, K., R. Elhasid, Orchard, K, Sue, C M, Halter, Joerg, Hammans, S., Halter, J., Schüpbach, W. M. M., Illa, I., M. Hirano, Mandel, H., W. M. M. Schupbach, Marti, R.   +69 more
core   +1 more source

ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy

, 2016
Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP).
Cenacchi, Giovanna, Rinaldi R, Tonon C, Lodi, R, Capristo, Mariantonietta, Rinaldi, R, Caporali L, Tonon, C, Pinna Ad, Pironi, L, Gramegna, Ll, Cenacchi, G, D'Angelo R, Boschetti E, Boschetti, Elisa, Tonon, Caterina, Stanzani, M, Pinna, Antonio Daniele, Pinna, Ad, D’Angelo, Roberto, Pironi L, D'Angelo, R, Casali C, D’Alessandro, Roberto, Lodi R, Gramegna, Laura Ludovica, Carelli, V, Pironi, Loris, D'ANGELO, ROBERTO, Stanzani, Marta, Rinaldi, Rita, Carelli V, Carelli, Valerio, Capristo, M, D'Alessandro R, Cenacchi G, Lodi, Raffaele, Casali, C, Stanzani M, De Giorgio, Roberto, Gramegna Ll, Caporali, Leonardo, CASALI, Carlo, Capristo M, D'Alessandro, R, Boschetti, E, Caporali, L   +46 more
core   +1 more source

Expression and Retention of Thymidine Phosphorylase in Cultured Reticulocytes as a Novel Treatment for MNGIE

Molecular Therapy: Methods & Clinical Development, 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal metabolic disorder caused by thymidine phosphorylase (TP) deficiency. Successful therapeutic interventions for this disease rely on a means for efficient and long-lasting ...
Marjolein Meinders, Debbie Shoemark, Johannes G.G. Dobbe, Geert J. Streekstra, Jan Frayne, Ashley M. Toye   +5 more
doaj   +1 more source

Insights from the SNP analysis of TYMP gene linking MNGIE. [PDF]

Bioinformation
TYMP gene, which codes for thymidine phosphorylase (TP) is also known as platelet-derived endothelial cell growth factor (PD-ECGF). TP plays crucial roles in nucleotide metabolism and angiogenesis. Mutations in the TYMP gene can lead to Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) syndrome, a rare genetic disorder.
Sifeddine N, Elkhattabi L, Ait El Cadi C, Krami AM, Mounaji K, El Khalfi B, Barakat A.   +6 more
europepmc   +3 more sources

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Biochemical features and therapeutic approaches

, 2007
Over the last 15 years, important research has expanded our knowledge of the clinical, molecular genetic, and biochemical features of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The characterization of mitochondrial involvement in this
VALENTINO, MARIA LUCIA, Lara, M. C., Hirano, M., Torres Torronteras, J., Martí, R.   +4 more
core   +1 more source