Results 51 to 60 of about 658 (148)

An update on autophagy disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in post‐mitotic tissues, congenital disorders of autophagy, due to monogenic defects in key autophagy genes ...
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi‐Fakhari, Manolis Fanto, Carlo Dionisi‐Vici, Heinz Jungbluth   +6 more
wiley   +1 more source

A Rare Case of Severe Congenital RYR1‐Associated Myopathy

Case Reports in Genetics, Volume 2018, Issue 1, 2018., 2018
Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that required mechanical ventilation, clubfoot, and other ...
Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta, Balraj Mittal   +9 more
wiley   +1 more source

Additional file 1 of Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

, 2023
Additional file 1. Figure S1. Regional heat map of healthcare provider locations for all 192 patients based on the NPI Registry Practice by 5-digit zip code. Table S1. Codes for planned vs unplanned hospitalization.
Graham, Robert J., Darras, Basil T., Haselkorn, Tmirah, Fisher, Dan, Genetti, Casie A., Miller, Weston, Beggs, Alan H.   +6 more
openaire   +1 more source

Adeno‐associated viral vector gene therapy: Challenges for the paediatric hepatologist

Journal of Pediatric Gastroenterology and Nutrition, Volume 79, Issue 3, Page 485-494, September 2024.
Abstract Hepatoxicity associated with recombinant adeno‐associated virus gene therapy is being increasingly encountered by hepatologists in tertiary and quaternary referral units due to the recent increase of these therapies for neuromuscular and haematological disorders.
Barath Jagadisan, Anil Dhawan
wiley   +1 more source

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.

, 2011
Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked myotubular myopathy (XLMTM) are common to congenital myasthenic syndromes (CMS).
Pike, Michael G., Muntoni, Francesco, Abbs, Stephen, Jungbluth, Heinz; id_orcid, Mills, Kerry R., Robb, Stephanie A., Cullup, Tom, Matthew C. Pitt, Knight, Ravi K., Francesco Muntoni, Caroline A. Sewry, Sue Lillis, Heinz Jungbluth, Pitt, Matthew C., Manzur, Adnan Y., Tom Cullup, Lillis, Sue, Stephanie A. Robb, Melissa M. Lees, Kress, Wolfram, Lucy Feng, Ravi K. Knight, Jocelyn Laporte, Kerry R. Mills, Feng, Lucy, Adnan Y. Manzur, David Beeson, Michael G. Pike, Stephen Abbs, Sewry, Caroline A., James J. Dowling, Lees, Melissa M., Beeson, David, Laporte, Jocelyn, Wolfram Kress, Dowling, James J., Dowling, James, Pike, Michael, Sewry, Caroline, Robb, Stephanie, Manzur, Adnan, Lees, Melissa, Mills, Kerry, Knight, Ravi, Jungbluth, Heinz   +44 more
core   +1 more source

Current developments of gene therapy in human diseases

MedComm, Volume 5, Issue 9, September 2024.
Gene therapy has seen remarkable advancements in recent decades, demonstrating its immense potential in treating a wide range of genetic and acquired diseases. Several AAV gene therapy products have been introduced to the market, addressing various conditions.
Fanfei Liu, Ruiting Li, Zilin Zhu, Yang Yang, Fang Lu   +4 more
wiley   +1 more source

AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV‐mRNA cargo

Journal of Extracellular Vesicles, Volume 13, Issue 7, July 2024.
Abstract MPS IIIC is a lysosomal storage disease caused by mutations in heparan‐α‐glucosaminide N‐acetyltransferase (HGSNAT), for which no treatment is available. Because HGSNAT is a trans‐lysosomal‐membrane protein, gene therapy for MPS IIIC needs to transduce as many cells as possible for maximal benefits. All cells continuously release extracellular
Tierra A. Bobo, Michael Robinson, Christopher Tofade, Marina Sokolski‐Papkov, Peter Nichols, Stephen Vorobiov, Haiyan Fu   +6 more
wiley   +1 more source

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience. [PDF]

, 2021
peer reviewedX-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene.
Gangfuss, Andrea, Schara-Schmidt, Ulrike, Schmitt, Dirk, Roos, Andreas, Braun, Frederik, Annoussamy, Melanie, Servais, Laurent, Dirk Schmitt, Frederik Braun, Andrea Gangfuss, Andreas Roos, Melanie Annoussamy, Laurent Servais, Ulrike Schara-Schmidt   +13 more
core   +1 more source

Hepatitis after gene therapy, what are the possible causes?

Journal of Viral Hepatitis, Volume 31, Issue S1, Page 14-20, April 2024.
Abstract Hepatitis is a common adverse event following gene therapy for haemophilia, often associated with a loss of transgene expression. Investigating the potential causes and implications of this is crucial for the overall success of treatment. Gene therapy trials using adeno‐associated virus (AAV) vectors have demonstrated promising results marked ...
Ann Maina, Graham R. Foster
wiley   +1 more source

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy [PDF]

, 2022
BACKGROUND: X-linked myotubular myopathy (XLMTM) is a life-threatening congenital myopathy that, in most cases, is characterized by profound muscle weakness, respiratory failure, need for mechanical ventilation and gastrostomy feeding, and early death ...
Lee, Jun, MacBean, Victoria, Noursalehi, Mojtaba, Lowes, Linda P., Beggs, Alan H., Seferian, Andreea M, Muntoni, Francesco, Graham, Robert J., Pitts, Teresa, Duong, Tina, Neuhaus, Sarah, Müller-Felber, Wolfgang, Sepulveda, Bryan, James, Emma S, Vila, Maria Candida, Beggs, Alan H, INCEPTUS investigators, ., Shieh, Perry B, Kuntz, Nancy L, Kuntz, Nancy L., Servais, Laurent, James, Emma S., Smith, Barbara K, Bilder, Deborah A, Coats, Julie, Finlay, Caroline, Bilder, Deborah A., Seferian, Andreea M., Smith, Barbara K., Miller, Weston, Prasad, Suyash, Bönnemann, Carsten G., Lawlor, Michael W., Christensen, Sarah, Alfano, Lindsay N., Shieh, Perry B., Rafferty, Gerrard; id_orcid, Tsuchiya, Etsuko, Bönnemann, Carsten G, Graham, Robert J, Dowling, James J, Lowes, Linda P, Lilien, Charlotte, INCEPTUS investigators, Rico, Salvador, Jain, Minal, Blaschek, Astrid, Rafferty, Gerrard, Alfano, Lindsay N, Lawlor, Michael W, Dowling, James J., Deborah A. Bilder, Bryan Sepulveda, Sarah Christensen, Caroline Finlay, Barbara K. Smith, Linda P. Lowes, Victoria MacBean, Gerrard Rafferty, Nancy L. Kuntz, Lindsay N. Alfano, Robert J. Graham, Mojtaba Noursalehi, Etsuko Tsuchiya, Sarah Neuhaus, Carsten G. Bönnemann, Emma S. James, null null, Charlotte Lilien, Francesco Muntoni, Teresa Pitts, Michael W. Lawlor, Wolfgang Müller-Felber, Tina Duong, Maria Candida Vila, Minal Jain, Julie Coats, Suyash Prasad, Andreea M. Seferian, Perry B. Shieh, Alan H. Beggs, Astrid Blaschek, James J. Dowling, Salvador Rico, Weston Miller, Laurent Servais, Jun Lee   +86 more
core   +2 more sources