Редактирование: DNM2

Dynamin-2 (EC 3.6.5.5) [DYN2]

==Publications==

{{medline-entry
|title=Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/30451843
|abstract=X-linked myotubular myopathy (XLMTM, also known as XLCNM) is a severe congenital muscular disorder due to mutations in the myotubularin gene, [[MTM1]]. It is characterized by generalized hypotonia, leading to neonatal death of most patients. No specific treatment exists. Here, we show that tamoxifen, a well-known drug used against breast cancer, rescues the phenotype of Mtm1-deficient mice. Tamoxifen increases lifespan several-fold while improving overall motor function and preventing disease progression including lower limb paralysis. Tamoxifen corrects functional, histological and molecular hallmarks of XLMTM, with improved force output, myonuclei positioning, myofibrillar structure, triad number, and excitation-contraction coupling. Tamoxifen normalizes the expression level of the XLMTM disease modifiers [[DNM2]] and PI3KC2B, likely contributing to the phenotypic rescue. Our findings demonstrate that tamoxifen is a promising candidate for clinical evaluation in XLMTM patients.
|mesh-terms=* Animals
* Class II Phosphatidylinositol 3-Kinases
* Disease Models, Animal
* Disease Progression
* Dynamin II
* Electric Stimulation
* Excitation Contraction Coupling
* Female
* Gene Expression
* Genes, Lethal
* Humans
* Longevity
* Male
* Mice
* Mice, Knockout
* Motor Activity
* Muscle, Skeletal
* Myofibrils
* Myopathies, Structural, Congenital
* Protective Agents
* Protein Tyrosine Phosphatases, Non-Receptor
* Tamoxifen

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243013
}}