Results 41 to 50 of about 7,553,951 (168)
Gene therapy for X-linked myotubular myopathy: the challenges
The Lancet Neurology, 2023 01 december ...
Voermans, N.C. +3 more
openaire +3 more sources
Respiratory care in myotubular myopathy
ERJ Open Research, 2021 X-linked myotubular myopathy is a neuromuscular condition caused by pathogenic variants in the MTM1 gene, which encodes for myotubularin, a phosphatidylinositol 3-phosphate phosphatase.
Hui-leng Tan, Elaine Chan
doaj +1 more source
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
Nature Communications, 2017 X-linked myotubular myopathy is caused by mutations in the gene coding for myotubularin 1, and is characterized by overexpression of dynamin 2. Here the authors develop antisense oligonucleotides to dynamin 2, and show that systemic injection leads to ...
Hichem Tasfaout +9 more
doaj +1 more source
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
Molecular Therapy: Methods & Clinical Development, 2020 Myotubular myopathy, also called X-linked centronuclear myopathy (XL-CNM), is a severe congenital disease targeted for therapeutic trials. To date, biomarkers to monitor disease progression and therapy efficacy are lacking.
Catherine Koch +27 more
doaj +1 more source
JCI Insight, 2023 Phosphoinositides (PIs) are membrane lipids that regulate signal transduction and vesicular trafficking. X-linked centronuclear myopathy (XLCNM), also called myotubular myopathy, results from loss-of-function mutations in the MTM1 gene, which encodes the
Xènia Massana-Muñoz +8 more
doaj +1 more source
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations
, 2001 Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1 mutations may present with limb girdle and facial weakness.
Winer, John +4 more
core +4 more sources
A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]
, 2011 the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core +1 more source
Anti-AAV Antibodies in AAV Gene Therapy: Current Challenges and Possible Solutions
Frontiers in Immunology, 2021 Adeno-associated virus (AAV) vector-based gene therapy is currently the only in vivo gene therapy approved in the US and Europe. The recent tragic death of three children in a clinical trial to treat X-Linked Myotubular Myopathy by delivering ...
Thomas Weber, Thomas Weber
doaj +1 more source
[Cousins with X-linked recessive myotubular myopathy].
No to hattatsu = Brain and development, 1997 We describe two cousins with severe infantile form of myotubular myopathy. In Japan this disease has previously been reported in only three families. Case 1. The propositus, a 2-year-5-month-old boy, had been on a respirator since birth. He had a history of severe neonatal asphyxia and sequential hypotonia with dyspnea.
Mori, Yosuke +10 more
openaire +2 more sources
Structural rationale to understand the effect of disease-associated mutations on Myotubularin
Current Research in Structural Biology, 2023 Myotubularin or MTM1 is a lipid phosphatase that regulates vesicular trafficking in the cell. The MTM1 gene is mutated in a severe form of muscular disease, X-linked myotubular myopathy or XLMTM, affecting 1 in 50,000 newborn males worldwide.
Teerna Bhattacharyya +4 more
doaj +1 more source