|  Help  |  About  |  Contact Us

Search our database by keyword

Examples

  • Search this entire website. Enter identifiers, names or keywords for genes, diseases, strains, ontology terms, etc. (e.g. Pax6, Parkinson, ataxia)
  • Use OR to search for either of two terms (e.g. OR mus) or quotation marks to search for phrases (e.g. "dna binding").
  • Boolean search syntax is supported: e.g. Balb* for partial matches or mus AND NOT embryo to exclude a term

Search results 1 to 100 out of 218 for Mtm1

<< First    < Previous  |  Next >    Last >>
0.021s

Categories

Hits by Pathway

Hits by Strain

Hits by Category

Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Saccharomyces cerevisiae
Gene
Type: gene
Organism: Danio rerio
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication
First Author: Joubert R
Year: 2013
Journal: Hum Mol Genet
Title: Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.
Volume: 22
Issue: 9
Pages: 1856-66
Publication
First Author: Pierson CR
Year: 2012
Journal: Hum Mol Genet
Title: Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Volume: 21
Issue: 4
Pages: 811-25
Publication
First Author: Lawlor MW
Year: 2014
Journal: Am J Pathol
Title: Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
Volume: 184
Issue: 6
Pages: 1831-42
Publication
First Author: Amoasii L
Year: 2013
Journal: J Cell Sci
Title: Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Volume: 126
Issue: Pt 8
Pages: 1806-19
Publication
First Author: Hnia K
Year: 2011
Journal: J Clin Invest
Title: Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Volume: 121
Issue: 1
Pages: 70-85
Publication
First Author: Al-Qusairi L
Year: 2013
Journal: FASEB J
Title: Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
Volume: 27
Issue: 8
Pages: 3384-94
Publication
First Author: Lawlor MW
Year: 2013
Journal: Hum Mol Genet
Title: Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Volume: 22
Issue: 8
Pages: 1525-38
Publication
First Author: Royer B
Year: 2013
Journal: EMBO Rep
Title: The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
Volume: 14
Issue: 10
Pages: 907-15
Publication
First Author: Fetalvero KM
Year: 2013
Journal: Mol Cell Biol
Title: Defective autophagy and mTORC1 signaling in myotubularin null mice.
Volume: 33
Issue: 1
Pages: 98-110
Publication
First Author: Buj-Bello A
Year: 2002
Journal: Proc Natl Acad Sci U S A
Title: The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.
Volume: 99
Issue: 23
Pages: 15060-5
Publication
First Author: Agrawal PB
Year: 2014
Journal: Am J Hum Genet
Title: SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Volume: 95
Issue: 2
Pages: 218-26
Publication
First Author: Al-Qusairi L
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Volume: 106
Issue: 44
Pages: 18763-8
Publication
First Author: Amoasii L
Year: 2012
Journal: PLoS Genet
Title: Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
Volume: 8
Issue: 10
Pages: e1002965
Publication
First Author: Mansour R
Year: 2016
Journal: Biochem Biophys Res Commun
Title: Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.
Volume: 476
Issue: 3
Pages: 167-73
Publication  
First Author: Tasfaout H
Year: 2017
Journal: Nat Commun
Title: Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.
Volume: 8
Pages: 15661
Publication
First Author: Raess MA
Year: 2017
Journal: Hum Mol Genet
Title: Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Volume: 26
Issue: 19
Pages: 3736-3748
Publication
First Author: Sabha N
Year: 2016
Journal: J Clin Invest
Title: PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.
Volume: 126
Issue: 9
Pages: 3613-25
Publication  
First Author: Lionello VM
Year: 2019
Journal: Sci Transl Med
Title: Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
Volume: 11
Issue: 484
Allele
Name: transgene insertion 243, T Jake Liang
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Publication categories: ProxyCollection
Publication
First Author: Laporte J
Year: 1998
Journal: Hum Mol Genet
Title: Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
Volume: 7
Issue: 11
Pages: 1703-12
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Laporte J
Year: 2002
Journal: J Cell Sci
Title: The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.
Volume: 115
Issue: Pt 15
Pages: 3105-17
Publication
First Author: Dowling JJ
Year: 2012
Journal: Dis Model Mech
Title: Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.
Volume: 5
Issue: 6
Pages: 852-9
Publication
First Author: Childers MK
Year: 2014
Journal: Sci Transl Med
Title: Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
Volume: 6
Issue: 220
Pages: 220ra10
Publication
First Author: Mariot V
Year: 2017
Journal: Nat Commun
Title: Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.
Volume: 8
Issue: 1
Pages: 1859
Publication
First Author: Gayi E
Year: 2018
Journal: Nat Commun
Title: Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.
Volume: 9
Issue: 1
Pages: 4848
Publication
First Author: Maani N
Year: 2018
Journal: Nat Commun
Title: Tamoxifen therapy in a murine model of myotubular myopathy.
Volume: 9
Issue: 1
Pages: 4849
Publication
First Author: Chaussade C
Year: 2003
Journal: Mol Endocrinol
Title: Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport.
Volume: 17
Issue: 12
Pages: 2448-60
GXD Expression  
Probe: MGI:2061166
Assay Type: RNA in situ
Annotation Date: 2007-03-21
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1618914
Pattern: Not Specified
Stage: TS14
Assay Id: MGI:3700532
Age: embryonic day 9.0
Note: A cyclical expression pattern could not be validated.
Detected: true
Specimen Num: 1
Publication
First Author: Lawlor MW
Year: 2011
Journal: Am J Pathol
Title: Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.
Volume: 178
Issue: 2
Pages: 784-93
Publication
First Author: Lawlor MW
Year: 2012
Journal: Am J Pathol
Title: Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
Volume: 181
Issue: 3
Pages: 961-8
Publication
First Author: Zhang Y
Year: 2008
Journal: PLoS Genet
Title: Genome-wide assessments reveal extremely high levels of polymorphism of two active families of mouse endogenous retroviral elements.
Volume: 4
Issue: 2
Pages: e1000007
Publication      
First Author: Mouse Chromosome Committee
Year: 1995
Journal: Personal Communication
Title: Personal Communication to Mouse Chromosome Committee
Publication
First Author: Concepcion D
Year: 2009
Journal: PLoS Genet
Title: Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing.
Volume: 5
Issue: 5
Pages: e1000484
Publication
First Author: Buj-Bello A
Year: 2008
Journal: Hum Mol Genet
Title: AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Volume: 17
Issue: 14
Pages: 2132-43
Publication
First Author: Blewitt ME
Year: 2008
Journal: Nat Genet
Title: SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation.
Volume: 40
Issue: 5
Pages: 663-9
Publication      
First Author: Prokic I
Year: 2020
Journal: Dis Model Mech
Title: Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration.
Publication
First Author: Dequéant ML
Year: 2006
Journal: Science
Title: A complex oscillating network of signaling genes underlies the mouse segmentation clock.
Volume: 314
Issue: 5805
Pages: 1595-8
Publication
First Author: Lu BC
Year: 2009
Journal: Nat Genet
Title: Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis.
Volume: 41
Issue: 12
Pages: 1295-302
Publication        
First Author: Mouse Genome Sequence and Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Mouse Genome Sequence Project Annotation
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
Publication
First Author: Friedel RH
Year: 2007
Journal: Brief Funct Genomic Proteomic
Title: EUCOMM--the European conditional mouse mutagenesis program.
Volume: 6
Issue: 3
Pages: 180-5
Publication
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication          
First Author: MGD Nomenclature Committee
Year: 1995
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
DO Term
Transgene
Type: transgene
Organism: Mus musculus
Publication
First Author: Tsujita K
Year: 2004
Journal: J Biol Chem
Title: Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction.
Volume: 279
Issue: 14
Pages: 13817-24
Protein Domain
Type: Family
Description: Myotubularin (MTM1) is a lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) [, ]. Myotubularin is essential in adult muscle []. MTM1 is involved in sarcoplasmic reticulum (SR) remodelling and promoting SR membrane curvature in skeletal muscle []. It also controls desmin intermediate filament architecture and mitochondrial dynamics in skeletal muscle [], and functions in late endosomal trafficking and vacuolar morphology [].Mutation in MTM1 cause X-linked centronuclear myopathy (XLCNM), a congenital muscle disorder characterised by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles [, ].
Publication
First Author: de Gouyon B
Year: 1996
Journal: Mamm Genome
Title: Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.
Volume: 7
Issue: 8
Pages: 575-9
Publication
First Author: Reifler A
Year: 2014
Journal: Am J Pathol
Title: Conditional knockout of pik3c3 causes a murine muscular dystrophy.
Volume: 184
Issue: 6
Pages: 1819-30
Publication
First Author: Ketel K
Year: 2016
Journal: Nature
Title: A phosphoinositide conversion mechanism for exit from endosomes.
Volume: 529
Issue: 7586
Pages: 408-12
Publication
First Author: Cowling BS
Year: 2014
Journal: J Clin Invest
Title: Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
Volume: 124
Issue: 3
Pages: 1350-63
Publication
First Author: Chen X
Year: 2020
Journal: J Biol Chem
Title: The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy.
Volume: 295
Issue: 26
Pages: 8656-8667