Tamoxifen therapy in a murine model of myotubular myopathy

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

[2]  N. Messaddeq,et al.  Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice. , 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

[3]  E. Spangenburg,et al.  Deletion of estrogen receptor α in skeletal muscle results in impaired contractility in female mice. , 2018, Journal of applied physiology.

[4]  Sapana N. Shah,et al.  Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy. , 2018, The American journal of pathology.

[5]  Francesco Muntoni,et al.  Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction , 2018, Nature Reviews Neurology.

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

[7]  K. Mamchaoui,et al.  Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy , 2017, EMBO molecular medicine.

[8]  A. Roux,et al.  Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation , 2017, The Journal of clinical investigation.

[9]  E. Eugster,et al.  Treatment of Girls and Boys with McCune-Albright Syndrome with Precocious Puberty - Update 2017. , 2017, Pediatric endocrinology reviews : PER.

[10]  F. Muntoni,et al.  Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches , 2017, Nature Communications.

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

[12]  A. Ishimine,et al.  Tamoxifen-induced Lung Injury , 2017, Internal medicine.

[13]  A. Michelucci,et al.  Estrogens Protect Calsequestrin-1 Knockout Mice from Lethal Hyperthermic Episodes by Reducing Oxidative Stress in Muscle , 2017, Oxidative medicine and cellular longevity.

[14]  L. Zambonin,et al.  Glycosides from Stevia rebaudiana Bertoni Possess Insulin-Mimetic and Antioxidant Activities in Rat Cardiac Fibroblasts , 2017, Oxidative medicine and cellular longevity.

[15]  J. Dowling,et al.  A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy , 2017, Neurology: Genetics.

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

[17]  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.

[18]  A. Thorburn,et al.  Therapeutic Targeting of Autophagy☆ , 2016, EBioMedicine.

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

[20]  R. Wassersug,et al.  Tamoxifen in men: a review of adverse events , 2016, Andrology.

[21]  C. Schwarzer,et al.  Restricting calcium currents is required for correct fiber type specification in skeletal muscle , 2016, Development.

[22]  A. Hevener,et al.  Skeletal muscle action of estrogen receptor α is critical for the maintenance of mitochondrial function and metabolic homeostasis in females , 2016, Science Translational Medicine.

[23]  I. Jourdain,et al.  The Exocyst Complex in Health and Disease , 2016, Front. Cell Dev. Biol..

[24]  C. Koumenis,et al.  AMPK Activation and Metabolic Reprogramming by Tamoxifen through Estrogen Receptor-Independent Mechanisms Suggests New Uses for This Therapeutic Modality in Cancer Treatment. , 2016, Cancer research.

[25]  M. Marino,et al.  Dynamin II is required for 17β-estradiol signaling and autophagy-based ERα degradation , 2016, Scientific Reports.

[26]  V. Haucke,et al.  Phosphatidylinositol 3‐phosphates—at the interface between cell signalling and membrane traffic , 2016, The EMBO journal.

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

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

[29]  A. Hevener,et al.  Impaired estrogen receptor action in the pathogenesis of the metabolic syndrome , 2015, Molecular and Cellular Endocrinology.

[30]  A. Beggs,et al.  Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs. , 2015, Annals of translational medicine.

[31]  S. Hsieh,et al.  Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation. , 2015, Human molecular genetics.

[32]  Frank Noé,et al.  Crystal structure of the dynamin tetramer , 2015, Nature.

[33]  C. Caldas,et al.  Corrigendum: Progesterone receptor modulates ERα action in breast cancer , 2015, Nature.

[34]  H. Kuperman,et al.  Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up , 2015, Hormone Research in Paediatrics.

[35]  E. Zanoteli,et al.  DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy , 2015, Genetics and molecular biology.

[36]  Jianming Xu,et al.  Tamoxifen Inhibits ER-negative Breast Cancer Cell Invasion and Metastasis by Accelerating Twist1 Degradation , 2015, International journal of biological sciences.

[37]  P. Bassereau,et al.  BIN1/M-Amphiphysin2 induces clustering of phosphoinositides to recruit its downstream partner dynamin , 2014, Nature Communications.

[38]  M. Gautel,et al.  Pathogenic Mechanisms in Centronuclear Myopathies , 2014, Front. Aging Neurosci..

[39]  V. Giguère,et al.  Estrogen-related receptor-α coordinates transcriptional programs essential for exercise tolerance and muscle fitness. , 2014, Molecular endocrinology.

[40]  T. Baumgart,et al.  BIN1 Membrane Curvature Sensing and Generation Show Autoinhibition Regulated by Downstream Ligands and PI(4,5)P2 , 2014, Biochemistry.

[41]  S. Bodine,et al.  Skeletal muscle atrophy and the E3 ubiquitin ligases MuRF1 and MAFbx/atrogin-1. , 2014, American journal of physiology. Endocrinology and metabolism.

[42]  J. Dowling,et al.  Triadopathies: An Emerging Class of Skeletal Muscle Diseases , 2014, Neurotherapeutics.

[43]  Stephen C Martinkovich,et al.  Selective estrogen receptor modulators: tissue specificity and clinical utility , 2014, Clinical interventions in aging.

[44]  Paul Theodor Pyl,et al.  HTSeq—a Python framework to work with high-throughput sequencing data , 2014, bioRxiv.

[45]  B. Picard,et al.  Myostatin and the skeletal muscle atrophy and hypertrophy signaling pathways , 2014, Cellular and Molecular Life Sciences.

[46]  D. Drubin,et al.  Actin and dynamin2 dynamics and interplay during clathrin-mediated endocytosis , 2014, The Journal of cell biology.

[47]  E. Levin,et al.  Membrane-localized estrogen receptor α is required for normal organ development and function. , 2014, Developmental cell.

[48]  S. Khosla,et al.  Dissection of Estrogen Receptor Alpha Signaling Pathways in Osteoblasts Using RNA-Sequencing , 2014, PloS one.

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

[50]  E. McNally,et al.  Dynamin 2 the rescue for centronuclear myopathy. , 2014, The Journal of clinical investigation.

[51]  Susan C. Brown,et al.  Adenovirus-mediated expression of myogenic differentiation factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes , 2014, Neuromuscular Disorders.

[52]  I. Barone,et al.  Estrogen receptor beta as a novel target of androgen receptor action in breast cancer cell lines , 2014, Breast Cancer Research.

[53]  R. Main,et al.  Female Mice Lacking Estrogen Receptor‐Alpha in Osteoblasts Have Compromised Bone Mass and Strength , 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[54]  N. Hah,et al.  Hormone-regulated transcriptomes: Lessons learned from estrogen signaling pathways in breast cancer cells , 2014, Molecular and Cellular Endocrinology.

[55]  C. Caputo,et al.  The excitation–contraction coupling mechanism in skeletal muscle , 2014, Biophysical Reviews.

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

[57]  Weizhu Wu,et al.  The therapeutic target of estrogen receptor-alpha36 in estrogen-dependent tumors , 2014, Journal of Translational Medicine.

[58]  H. Billig,et al.  The elusive and controversial roles of estrogen and progesterone receptors in human endometriosis. , 2014, American journal of translational research.

[59]  T. Kunoh,et al.  A novel tamoxifen derivative, ridaifen-F, is a nonpeptidic small-molecule proteasome inhibitor. , 2014, European journal of medicinal chemistry.

[60]  M. Egerman,et al.  Signaling pathways controlling skeletal muscle mass , 2013, Critical reviews in biochemistry and molecular biology.

[61]  J. Laporte,et al.  The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies , 2013, EMBO reports.

[62]  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.

[63]  N. Romero,et al.  Extensive morphological and immunohistochemical characterization in myotubular myopathy , 2013, Brain and behavior.

[64]  P. Vanhoutte,et al.  Differential Ligand Binding Affinities of Human Estrogen Receptor-α Isoforms , 2013, PloS one.

[65]  B. Payrastre,et al.  Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo , 2013, Journal of Cell Science.

[66]  R. Grange,et al.  Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. , 2013, Human molecular genetics.

[67]  A. Kaminska,et al.  A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy , 2013, Neuromuscular Disorders.

[68]  L. Decosterd,et al.  The anticancer drug tamoxifen counteracts the pathology in a mouse model of duchenne muscular dystrophy. , 2013, The American journal of pathology.

[69]  A. Brunello,et al.  Treatment of estrogen receptor-positive breast cancer. , 2013, Current medicinal chemistry.

[70]  K. Petersen,et al.  Cellular mechanism by which estradiol protects female ovariectomized mice from high-fat diet-induced hepatic and muscle insulin resistance. , 2013, Endocrinology.

[71]  A. Goldberg Development of proteasome inhibitors as research tools and cancer drugs , 2012, The Journal of cell biology.

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

[73]  B. Klaholz,et al.  Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice , 2012, PLoS genetics.

[74]  J. Dowling,et al.  Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models , 2012, Disease Models & Mechanisms.

[75]  Min Jae Lee,et al.  Emerging roles of the ubiquitin-proteasome system in the steroid receptor signaling , 2012, Archives of pharmacal research.

[76]  J. Laporte,et al.  Myotubularins and associated neuromuscular diseases , 2012 .

[77]  U. Suter,et al.  Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination. , 2012, Brain : a journal of neurology.

[78]  J. Dowling,et al.  Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. , 2012, Human molecular genetics.

[79]  H. Goebel,et al.  Protein aggregation in congenital myopathies. , 2011, Seminars in pediatric neurology.

[80]  Christos C. Petrou,et al.  Insights into ectopic estrogen receptor expression, nucleocytoplasmic distribution and interaction with chromatin obtained with new antibodies to estrogen receptors α and β , 2011, Steroids.

[81]  B. Al-Ayadhy,et al.  Analysis of estrogen receptor isoforms and variants in breast cancer cell lines. , 2011, Experimental and therapeutic medicine.

[82]  Jeroen F. J. Laros,et al.  LOVD v.2.0: the next generation in gene variant databases , 2011, Human mutation.

[83]  J. Hartwig,et al.  Direct dynamin–actin interactions regulate the actin cytoskeleton , 2010, The EMBO journal.

[84]  A. Kiger,et al.  Drosophila Mtm and class II PI3K coregulate a PI(3)P pool with cortical and endolysosomal functions , 2010, The Journal of cell biology.

[85]  D. Price,et al.  Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism , 2010, Proceedings of the National Academy of Sciences.

[86]  R. Karas,et al.  Rapid progress for non-nuclear estrogen receptor signaling. , 2010, The Journal of clinical investigation.

[87]  P. Novick,et al.  Phosphatidylinositol 4-phosphate controls both membrane recruitment and a regulatory switch of the Rab GEF Sec2p. , 2010, Developmental cell.

[88]  Gordon L. Warren,et al.  Estrogen Regulates Estrogen Receptors and Antioxidant Gene Expression in Mouse Skeletal Muscle , 2010, PloS one.

[89]  Roger E. Taylor,et al.  The addition of high-dose tamoxifen to standard radiotherapy does not improve the survival of patients with diffuse intrinsic pontine glioma , 2010, Journal of Neuro-Oncology.

[90]  N. Mizushima,et al.  Methods in Mammalian Autophagy Research , 2010, Cell.

[91]  Matthew D. Young,et al.  Gene ontology analysis for RNA-seq: accounting for selection bias , 2010, Genome Biology.

[92]  A. Hevener,et al.  Impaired oxidative metabolism and inflammation are associated with insulin resistance in ERalpha-deficient mice. , 2010, American journal of physiology. Endocrinology and metabolism.

[93]  Davis J. McCarthy,et al.  edgeR: a Bioconductor package for differential expression analysis of digital gene expression data , 2009, Bioinform..

[94]  A. Buj-Bello,et al.  T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase , 2009, Proceedings of the National Academy of Sciences.

[95]  Adrian V. Lee,et al.  Proteasome inhibition represses ERα gene expression in ER+ cells- a new link between proteasome activity and estrogen signaling in breast cancer , 2009, Oncogene.

[96]  C. Dieli-Conwright,et al.  Oestradiol and SERM treatments influence oestrogen receptor coregulator gene expression in human skeletal muscle cells , 2009, Acta physiologica.

[97]  F. Muntoni,et al.  Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies , 2009, Neuromuscular Disorders.

[98]  Andrew P. Vreede,et al.  Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy , 2009, PLoS genetics.

[99]  M. Esbjörnsson,et al.  Expression of both oestrogen receptor alpha and beta in human skeletal muscle tissue , 2009, Histochemistry and Cell Biology.

[100]  Eun-Chang Lee,et al.  Tamoxifen Suppresses Clusterin Level through Akt Inactivation and Proteasome Degradation in Human Prostate Cancer Cells , 2009 .

[101]  Thomas D. Schmittgen,et al.  Analyzing real-time PCR data by the comparative CT method , 2008, Nature Protocols.

[102]  H. Chao,et al.  The role of selective estrogen receptor modulators on breast cancer: from tamoxifen to raloxifene. , 2008, Taiwanese journal of obstetrics & gynecology.

[103]  Jang-Yang Chang,et al.  Tamoxifen accelerates proteasomal degradation of O6‐methylguanine DNA methyltransferase in human cancer cells , 2007, International journal of cancer.

[104]  C. Wallgren‐Pettersson,et al.  Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy , 2007, Nature Genetics.

[105]  S. Tapscott,et al.  Reciprocal inhibition between Pax7 and muscle regulatory factors modulates myogenic cell fate determination , 2007, The Journal of cell biology.

[106]  M. Brielmeier,et al.  Optimization of spatiotemporal gene inactivation in mouse heart by oral application of tamoxifen citrate , 2007, Genesis.

[107]  Chin-Yo Lin,et al.  Gene expression preferentially regulated by tamoxifen in breast cancer cells and correlations with clinical outcome. , 2006, Cancer research.

[108]  Yosuke Nagata,et al.  Pax7 and myogenic progression in skeletal muscle satellite cells , 2006, Journal of Cell Science.

[109]  I. Nishino,et al.  Gene expression analyses in X-linked myotubular myopathy , 2005, Neurology.

[110]  Maria Sjöberg,et al.  Mechanisms of estrogen receptor signaling: convergence of genomic and nongenomic actions on target genes. , 2005, Molecular endocrinology.

[111]  G. Leclercq,et al.  Role of the proteasome in the regulation of estrogen receptor α turnover and function in MCF-7 breast carcinoma cells , 2005, The Journal of Steroid Biochemistry and Molecular Biology.

[112]  P. Visca,et al.  S-palmitoylation modulates human estrogen receptor-α functions , 2004 .

[113]  M. Krawczak,et al.  Genotype–phenotype correlations in X-linked myotubular myopathy , 2002, Neuromuscular Disorders.

[114]  D. Shapiro,et al.  Estrogen Receptor-dependent and Estrogen Receptor-independent Pathways for Tamoxifen and 4-Hydroxytamoxifen-induced Programmed Cell Death* , 2002, The Journal of Biological Chemistry.

[115]  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.

[116]  A. Howell,et al.  Fulvestrant, formerly ICI 182,780, is as effective as anastrozole in postmenopausal women with advanced breast cancer progressing after prior endocrine treatment. , 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[117]  J. Vonesch,et al.  The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. , 2002, Journal of cell science.

[118]  K. Patel,et al.  Muscle development genes: their relevance in neuromuscular disorders , 2002, Neuromuscular Disorders.

[119]  G. Iwamoto,et al.  Increased adipose tissue in male and female estrogen receptor-α knockout mice , 2000 .

[120]  C. Wallgren‐Pettersson,et al.  MTM1 mutations in X‐linked myotubular myopathy , 2000, Human mutation.

[121]  R. Clarke,et al.  Identification of twenty alternatively spliced estrogen receptor alpha mRNAs in breast cancer cell lines and tumors using splice targeted primer approach , 2000, The Journal of Steroid Biochemistry and Molecular Biology.

[122]  T Reilly,et al.  Changes in muscle strength in women following the menopause: a longitudinal assessment of the efficacy of hormone replacement therapy. , 1999, Clinical science.

[123]  B. O’Malley,et al.  Proteasome-dependent degradation of the human estrogen receptor. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[124]  S. Jukić,et al.  Effects of tamoxifen on steroid hormone receptors and hormone concentration and the results of DNA analysis by flow cytometry in endometrial carcinoma. , 1999, Gynecologic oncology.

[125]  Wei Zhao,et al.  Medical complications in long-term survivors with X-linked myotubular myopathy. , 1999, The Journal of pediatrics.

[126]  A. Fattorossi,et al.  Tamoxifen induces oxidative stress and apoptosis in oestrogen receptor-negative human cancer cell lines , 1999, British Journal of Cancer.

[127]  W. Bursch,et al.  Active cell death induced by the anti-estrogens tamoxifen and ICI 164 384 in human mammary carcinoma cells (MCF-7) in culture: the role of autophagy. , 1996, Carcinogenesis.

[128]  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.

[129]  M. Karasek,et al.  A method for the isolation and serial propagation of keratinocytes, endothelial cells, and fibroblasts from a single punch biopsy of human skin , 1995, In Vitro Cellular & Developmental Biology - Animal.

[130]  N. Webster,et al.  The human estrogen receptor has two independent nonacidic transcriptional activation functions , 1989, Cell.

[131]  T. Munsat,et al.  Centronuclear ("myotubular") myopathy. , 1969, Archives of neurology.

[132]  S. Friant,et al.  WANTED - Dead or alive: Myotubularins, a large disease-associated protein family. , 2017, Advances in biological regulation.

[133]  H. Hwang,et al.  Drug affinity responsive target stability (DARTS) for small-molecule target identification. , 2015, Methods in molecular biology.

[134]  R. Vohra,et al.  Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. , 2014, The American journal of pathology.

[135]  Thomas R. Gingeras,et al.  STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..

[136]  I. Nishino,et al.  Molecular Pathogenesis of Genetic and Inherited Diseases Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness , 2011 .

[137]  which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. MAnorm: a robust model for quantitative comparison of ChIP-Seq data sets , 2011 .

[138]  P. Tiidus,et al.  The Influence of Estrogen on Skeletal Muscle , 2010, Sports medicine.

[139]  A. Beggs,et al.  Mutations in dynamin 2 cause dominant centronuclear myopathy. , 2005, Nature genetics.

[140]  M. McNiven,et al.  Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion. , 2004, Nature cell biology.

[141]  E. Lam,et al.  Expression of estrogen receptor beta isoforms in normal breast epithelial cells and breast cancer: regulation by methylation. , 2003, Oncogene.

[142]  R. Woledge,et al.  Muscle weakness in women occurs at an earlier age than in men, but strength is preserved by hormone replacement therapy. , 1993, Clinical science.

[143]  P. D. White The long follow-up. , 1956, Journal of chronic diseases.