X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

[1]  J. Laporte,et al.  Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy , 2022, Disease models & mechanisms.

[2]  J. Dowling,et al.  Natural history of a mouse model of X-linked myotubular myopathy , 2021, bioRxiv.

[3]  J. Dowling,et al.  X-linked myotubular myopathy , 2021, Neuromuscular Disorders.

[4]  B. Kamath,et al.  Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report , 2021, Journal of neuromuscular diseases.

[5]  C. Cytrynbaum,et al.  Anatomy of DNA methylation signatures: Emerging insights and applications. , 2021, American journal of human genetics.

[6]  S. Scherer,et al.  Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature , 2021, American journal of human genetics.

[7]  S. Scherer,et al.  DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes , 2020, American journal of human genetics.

[8]  Yohann Couté,et al.  Proline: an efficient and user-friendly software suite for large-scale proteomics , 2020, Bioinform..

[9]  P. Roy,et al.  Identification of drug modifiers for RYR1 related myopathy using a multi-species discovery pipeline , 2019, bioRxiv.

[10]  J. Dowling,et al.  Mouse model of severe recessive RYR1-related myopathy. , 2019, Human molecular genetics.

[11]  J. Dowling,et al.  The expanding spectrum of neurological disorders of phosphoinositide metabolism , 2019, Disease Models & Mechanisms.

[12]  P. Koutakis,et al.  Role of Transforming Growth Factor-β in Skeletal Muscle Fibrosis: A Review , 2019, International journal of molecular sciences.

[13]  Y. Hérault,et al.  Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice , 2019, Science Translational Medicine.

[14]  P. Calabresi,et al.  Valproic Acid and Epilepsy: From Molecular Mechanisms to Clinical Evidences , 2019, Current neuropharmacology.

[15]  Arun K. Ramani,et al.  Tamoxifen therapy in a murine model of myotubular myopathy , 2018, Nature Communications.

[16]  L. Decosterd,et al.  Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy , 2018, Nature Communications.

[17]  Yanbao Yu,et al.  S-Trap, an Ultrafast Sample-Preparation Approach for Shotgun Proteomics. , 2018, Journal of proteome research.

[18]  N. Perrimon,et al.  Efficient proximity labeling in living cells and organisms with TurboID , 2018, Nature Biotechnology.

[19]  I. Sumara,et al.  The MTM1–UBQLN2–HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle , 2018, Nature Cell Biology.

[20]  B. Byrne,et al.  A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study , 2017, Muscle & nerve.

[21]  J. Dowling,et al.  A natural history study of X-linked myotubular myopathy , 2017, Neurology.

[22]  J. Kleinjans,et al.  Nuclear and Mitochondrial DNA Methylation Patterns Induced by Valproic Acid in Human Hepatocytes , 2017, Chemical research in toxicology.

[23]  Shuling Guo,et al.  Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice , 2017, Nature Communications.

[24]  Andrei L. Turinsky,et al.  CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions , 2017, American journal of human genetics.

[25]  F. Muntoni,et al.  Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations , 2016, Human molecular genetics.

[26]  M. Noble,et al.  Lysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular Toxicity , 2016, PLoS biology.

[27]  J. Dowling,et al.  PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. , 2016, The Journal of clinical investigation.

[28]  T. Arányi,et al.  From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research , 2016, Front. Neurosci..

[29]  J. Dowling,et al.  Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons , 2016, Journal of neuropathology and experimental neurology.

[30]  V. Haucke,et al.  A phosphoinositide conversion mechanism for exit from endosomes , 2016, Nature.

[31]  T. Bottiglieri,et al.  Quantitation of S-Adenosylmethionine and S-Adenosylhomocysteine in Plasma Using Liquid Chromatography-Electrospray Tandem Mass Spectrometry. , 2016, Methods in molecular biology.

[32]  A L Turinsky,et al.  NSD1 mutations generate a genome-wide DNA methylation signature , 2015, Nature Communications.

[33]  Kevin Bishop,et al.  High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9 , 2015, Genome research.

[34]  Z. Shah,et al.  The Basal Transcription Complex Component TAF3 Transduces Changes in Nuclear Phosphoinositides into Transcriptional Output , 2015, Molecular cell.

[35]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[36]  S. Dell’Orso,et al.  The NAD(+)-dependent SIRT1 deacetylase translates a metabolic switch into regulatory epigenetics in skeletal muscle stem cells. , 2015, Cell stem cell.

[37]  A. E. Rossi,et al.  Excess SMAD signaling contributes to heart and muscle dysfunction in muscular dystrophy. , 2014, Human molecular genetics.

[38]  H. Bjornsson,et al.  Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. , 2014, Annual review of genomics and human genetics.

[39]  O. Pertz,et al.  Phosphatidylinositol 5-phosphate regulates invasion through binding and activation of Tiam1 , 2014, Nature Communications.

[40]  N. Romero,et al.  Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. , 2014, The Journal of clinical investigation.

[41]  R. Grange,et al.  Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy , 2014, Science Translational Medicine.

[42]  Susan R. Wente,et al.  Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system , 2013, Proceedings of the National Academy of Sciences.

[43]  J. Mandel,et al.  Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin‐proteasome pathways , 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[44]  M. Sandri,et al.  Cellular and molecular mechanisms of muscle atrophy , 2013, Disease Models & Mechanisms.

[45]  Jeffrey A. Porter,et al.  Defective Autophagy and mTORC1 Signaling in Myotubularin Null Mice , 2012, Molecular and Cellular Biology.

[46]  Jian Ye,et al.  Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction , 2012, BMC Bioinformatics.

[47]  J. Uney,et al.  Down-Regulation of Myogenin Can Reverse Terminal Muscle Cell Differentiation , 2012, PloS one.

[48]  Rashid Bashir,et al.  Patterning the differentiation of C2C12 skeletal myoblasts. , 2011, Integrative biology : quantitative biosciences from nano to macro.

[49]  Tetsuo Kobayashi,et al.  Follistatin improves skeletal muscle healing after injury and disease through an interaction with muscle regeneration, angiogenesis, and fibrosis. , 2011, The American journal of pathology.

[50]  A. Kiger,et al.  Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance , 2011, PLoS genetics.

[51]  A. Beggs,et al.  Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. , 2011, The Journal of clinical investigation.

[52]  A. Guidotti,et al.  Valproate induces DNA demethylation in nuclear extracts from adult mouse brain , 2010, Epigenetics.

[53]  J. Dowling,et al.  Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy. , 2010, Human molecular genetics.

[54]  K. Takegawa,et al.  Valproic Acid Affects Membrane Trafficking and Cell-Wall Integrity in Fission Yeast , 2007, Genetics.

[55]  M. Szyf,et al.  Valproate induces widespread epigenetic reprogramming which involves demethylation of specific genes. , 2007, Carcinogenesis.

[56]  O. Lorenzo,et al.  The Myotubularin Family of Lipid Phosphatases , 2005, Traffic.

[57]  Heinz Schwarz,et al.  Zebrafish penner/lethal giant larvae 2 functions in hemidesmosome formation, maintenance of cellular morphology and growth regulation in the developing basal epidermis , 2005, Development.

[58]  M. Bialer,et al.  Histone deacetylases inhibition and tumor cells cytotoxicity by CNS-active VPA constitutional isomers and derivatives. , 2005, Biochemical pharmacology.

[59]  L. Liaubet,et al.  Production of Phosphatidylinositol 5-Phosphate by the Phosphoinositide 3-Phosphatase Myotubularin in Mammalian Cells* , 2004, Journal of Biological Chemistry.

[60]  M. Szyf,et al.  Valproate Induces Replication-independent Active DNA Demethylation* , 2003, Journal of Biological Chemistry.

[61]  Hala G. Zahreddine,et al.  The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[62]  G. Superti-Furga,et al.  Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. , 2000, Human molecular genetics.

[63]  J. Dixon,et al.  Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[64]  R. Derynck,et al.  Smad3 and Smad4 cooperate with c-Jun/c-Fos to mediate TGF-β-induced transcription , 1998, Nature.

[65]  M. Cleary,et al.  Association of SET domain and myotubularin-related proteins modulates growth control , 1998, Nature Medicine.

[66]  S. Klauck,et al.  A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast , 1996, Nature Genetics.

[67]  G. Wilding,et al.  Transforming growth factor beta 1 induces cachexia and systemic fibrosis without an antitumor effect in nude mice. , 1991, Cancer research.