Phosphoinositide phosphatases and disease
Journal of Lipid Research, 2009 The field of inositol signaling has expanded greatly in recent years. Given the many reviews on phosphoinositide kinases, we have chosen to restrict our discussion to inositol lipid hydrolysis focused on the phosphatases and a brief mention of the lipase
Philip W. Majerus, John D. York
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Caenorhabditis elegans myotubularin MTM-1 negatively regulates the engulfment of apoptotic cells. [PDF]
PLoS Genetics, 2009 During programmed cell death, apoptotic cells are recognized and rapidly engulfed by phagocytes. Although a number of genes have been identified that promote cell corpse engulfment, it is not well understood how phagocytosis of apoptotic cells is ...
Wei Zou +6 more
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X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child
Journal of the Formosan Medical Association, 2008 We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis ...
Chia-Ying Chang +5 more
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Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity. [PDF]
PLoS ONE, 2016 Myotubularin-related protein 1 (MTMR1) is a phosphatase that belongs to the tyrosine/dual-specificity phosphatase superfamily. MTMR1 has been shown to use phosphatidylinositol 3-monophosphate (PI(3)P) and/or phosphatidylinositol 3,5-bisphosphate (PI(3,5 ...
Seoung Min Bong +9 more
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Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice [PDF]
Molecular and Cellular Biology, 2013 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 ...
Kristina M, Fetalvero +16 more
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Genetic Analysis of the Myotubularin Family of Phosphatases in Caenorhabditis elegans [PDF]
Journal of Biological Chemistry, 2003 Myotubularins (MTMs) constitute a large family of lipid phosphatases that specifically dephosphorylate phosphatidylinositol (3)P. MTM1 and MTM2 are mutated in X-linked myotubular myopathy and Charcot-Marie-Tooth disease (type 4B), respectively, although the mechanisms whereby MTM dysfunction leads to these diseases is unknown.
Yingzi, Xue +6 more
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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
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Myotubularins and associated neuromuscular diseases
Clinical Lipidology, 2012 The myotubularins are a family of phosphoinositide 3-phosphatases preferentially hydrolyzing phosphatidylinositol 3-monophosphate and also phosphatidylinositol (3,5) bis-phosphate, thus generating phosphatidylinositol and phosphatidylinositol 5-monophosphate, respectively.
Tronchere, Helene +3 more
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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
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Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance. [PDF]
PLoS Genetics, 2011 Muscles must maintain cell compartmentalization when remodeled during development and use. How spatially restricted adhesions are regulated with muscle remodeling is largely unexplored.
Inês Ribeiro +4 more
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