ArticleMolecular and cellular biology2013
Defective autophagy and mTORC1 signaling in myotubularin null mice.
Article in Molecular and cellular biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 89 citations in OpenAlex.
- Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.Journal of neuromuscular diseases · 2025Trial
- Bridging autophagy and endolysosomal dysfunction: Role of bridging integrator 1 in Alzheimer's disease.Neural regeneration research · 2026Article
- Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease.JCI insight · 2026Article
- Lysosomal phosphoinositide turnover acts upstream of RagGTPase-mTORC1 and controls muscle growth.Nature metabolism · 2026Article
- Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy.JCI insight · 2025Article
- Myotubularin 2 interacts with SEC23A and negatively regulates autophagy at ER exit sites in Arabidopsis.Autophagy · 2025Article
- MYTHO is a novel regulator of skeletal muscle autophagy and integrity.Nature communications · 2023Article
- X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.Acta neuropathologica · 2022Article
- Natural history of a mouse model of X-linked myotubular myopathy.Disease models & mechanisms · 2022Article
- Silencing of the CaInternational journal of molecular sciences · 2022Article
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.Autophagy · 2022Article
- Activation Mechanisms of the VPS34 Complexes.Cells · 2021Review
- Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.International journal of molecular sciences · 2021Review
- Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.Orphanet journal of rare diseases · 2021Article
- Autophagy in major human diseases.The EMBO journal · 2021Review
- Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.Human molecular genetics · 2021Article
- Defective lysosome reformation during autophagy causes skeletal muscle disease.The Journal of clinical investigation · 2021Article
- rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.Acta neuropathologica communications · 2020Article
- Review
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Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
Abstract
Autophagy is a vesicular trafficking pathway that regulates the degradation of aggregated proteins and damaged organelles. Initiation of autophagy requires several multiprotein signaling complexes, such as the ULK1 kinase complex and the Vps34 lipid kinase complex, which generates phosphatidylinositol 3-phosphate [PtdIns(3)P] on the forming autophagosomal membrane. Alterations in autophagy have been reported for various diseases, including myopathies. Here we show that skeletal muscle autophagy is compromised in mice deficient in the X-linked myotubular myopathy (XLMTM)-associated PtdIns(3)P phosphatase myotubularin (MTM1). Mtm1-deficient muscle displays several cellular abnormalities, including a profound increase in ubiquitin aggregates and abnormal mitochondria. Further, we show that Mtm1 deficiency is accompanied by activation of mTORC1 signaling, which persists even following starvation. In vivo pharmacological inhibition of mTOR is sufficient to normalize aberrant autophagy and improve muscle phenotypes in Mtm1 null mice. These results suggest that aberrant mTORC1 signaling and impaired autophagy are consequences of the loss of Mtm1 and may play a primary role in disease pathogenesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.