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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 33, pp. 14697 - 14702
Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male... 
Animal models | Necklaces | Phosphatases | Muscular diseases | Canines | Dogs | Muscles | Biopsies | Genetic mutation | Skeletal muscle | Congenital myopathy | Animal model | Canine myopathy | Myotubularin | Necklace fibers | myotubularin | CENTRONUCLEAR MYOPATHY | MULTIDISCIPLINARY SCIENCES | MUSCULAR-DYSTROPHY | PHENOTYPE | HOMOLOG | canine myopathy | necklace fibers | FAMILY | PHOSPHATASE MYOTUBULARIN | MUSCLE-FIBERS | DOGS | LIPID PHOSPHATASE | animal model | SURVIVORS | congenital myopathy | Haplotypes | Humans | Cercopithecus aethiops | Molecular Sequence Data | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - veterinary | Green Fluorescent Proteins - genetics | Dog Diseases - pathology | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Female | Genetic Diseases, X-Linked - genetics | Fluorescent Antibody Technique, Indirect | Amino Acid Sequence | Green Fluorescent Proteins - metabolism | Muscle, Skeletal - ultrastructure | Dog Diseases - genetics | Genotype | Microscopy, Electron | Mice, Knockout | Sequence Homology, Amino Acid | Animals | Pedigree | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Myopathies, Structural, Congenital - pathology | Genetic Diseases, X-Linked - pathology | Mice | Muscle, Skeletal - pathology | Mutation | COS Cells | Muscle diseases | Genetic aspects | Gene mutations | Properties | Identification and classification | Microtubules | MTM1 gene | Myotubes | Exons | Fetuses | X chromosome | proteasomes | Tubules | Data processing | Nuclei | Atrophy | Mitochondria | Biopsy | Protein folding | Age | Myopathy | Life Sciences | Genetics | Biological Sciences
Journal Article
Traffic, ISSN 1398-9219, 08/2008, Volume 9, Issue 8, pp. 1240 - 1249
Journal Article
Experimental Cell Research, ISSN 0014-4827, 11/2019, p. 111709
Journal Article
Cell Cycle, ISSN 1538-4101, 10/2019, Volume 18, Issue 20, pp. 2800 - 2813
Myotubularin related protein 7 (MTMR7), a key member of the MTMR family, depicts phosphatase activity and is involved in myogenesis and tumor growth. We have... 
Myotubularin related protein 7 (MTMR7) | spermatogonial stem cell (SSC) | germ cells | PI3K/AKT signaling
Journal Article
FEBS Letters, ISSN 0014-5793, 2010, Volume 584, Issue 7, pp. 1313 - 1318
Journal Article
Autophagy, ISSN 1554-8627, 02/2015, Volume 11, Issue 2, pp. 200 - 213
Protein quality control (proteostasis) depends on constant protein degradation and resynthesis, and is essential for proper homeostasis in systems from single... 
TSC, tuberous sclerosis complex | exercise | ATG, autophagy-related | BECN1, Beclin 1, autophagy related | MTMR14/hJumpy, myotubularin related protein 14 | protein breakdown | ULK1, unc-51 like autophagy activating kinase 1 | HSF1, heat shock transcription factor 1 | heat shock response | PBMC, peripheral blood mononuclear cell | FOXO, forkhead box O | EIF4EBP1, eukaryotic translation initiation factor 4E binding protein 1 | MTOR, mechanistic target of rapamycin | autophagy | HSP70 | SQSTM1/p62, sequestosome 1 | HSPA8/HSC70, heat shock 70kDa protein 8 | protein synthesis | SOD, superoxide dismutase | TPR, translocated promoter region, nuclear basket protein | PPARGC1A/PGC-1α, peroxisome proliferator-activated receptor, gamma, coactivator 1 α | LC3, MAP1LC3, microtubule-associated protein 1 light chain 3 | NR1D1/Rev-Erb-α, nuclear receptor subfamily 1, group D, member 1 | AMPK, adenosine monophosphate-activated protein kinase | AKT, v-akt murine thymoma viral oncogene homolog 1 | RHEB, Ras homolog enriched in brain | IL, interleukin | HSP, heat shock protein | humans | ER, endoplasmic reticulum | Protein breakdown | Exercise | Protein synthesis | Humans | Heat shock response | Autophagy | MAMMALIAN TARGET | CHAPERONE-MEDIATED AUTOPHAGY | MOLECULAR CHAPERONES | ESSENTIAL AMINO-ACID | EXERCISE-INDUCED INCREASE | HUMAN SKELETAL-MUSCLE | CELL BIOLOGY | MUSCLE PROTEIN-SYNTHESIS | RESISTANCE EXERCISE | ECCENTRIC EXERCISE | NF-KAPPA-B | Animals | Lysosomes - metabolism | Heat-Shock Proteins - metabolism | Metabolic Networks and Pathways - physiology | Signal Transduction - physiology | Autophagy - physiology | Heat-Shock Response - physiology
Journal Article
International journal of molecular sciences, ISSN 1422-0067, 04/2019, Volume 20, Issue 9, p. 2080
Phosphatidylinositol (PI)-related signaling plays a pivotal role in many cellular aspects, including survival, cell proliferation, differentiation, DNA damage,... 
PI5P | nucleus | PIKFyve | myotubularin | PI5P4K/PIP4K | phosphatases
Journal Article
Frontiers in Neuroscience, ISSN 1662-453X, 10/2019, Volume 13
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the... 
membrane remodeling | myotubularin-related 2 gene | Charcot-Marie-Tooth disease type 4B1 | whole-exome sequencing | phosphoinositides
Journal Article
Journal Article
Biochemical Journal, ISSN 0264-6021, 04/2009, Volume 419, Issue 1, pp. 57 - 63
The inositol phosphatase, MTMR4 (myotubularin-related protein 4), was identified as a novel interactor of the ubiquitin ligase Nedd4... 
Myotubularin-related protein 4 (MTMR4) | Muscle atrophy | Neural-precursor-cell-expressed developmentally down-regulated 4 (Nedd4) | Ubiquitin ligase | Inositol phosphatase | Myotubularin | ubiquitin ligase | LOCALIZATION | myotubularin | SPECIFICITY | EPITHELIAL NA+ CHANNEL | BIOCHEMISTRY & MOLECULAR BIOLOGY | C2 DOMAIN | neural-precursor-cell-expressed developmentally down-regulated 4 (Nedd4) | myotubularin-related protein 4 (MTMR4) | PHOSPHOINOSITIDES | SKELETAL-MUSCLE | MYOTUBULARINS | MULTIVESICULAR-BODY | muscle atrophy | MEMBRANE-TRANSPORT | ASSOCIATION | inositol phosphatase | Protein Structure, Tertiary | Cell Line | Immunoprecipitation | Endosomal Sorting Complexes Required for Transport | Humans | Ubiquitin-Protein Ligases - metabolism | Rats | Male | Blotting, Western | Ubiquitination | Animals | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Nedd4 Ubiquitin Protein Ligases | HeLa Cells | Muscles - metabolism | Protein Binding - physiology | HECT, homologous with E6-associated protein C-terminus | h, human | HEK, human embryonic kidney | ENaC, epithelial sodium channel | MTMR4, myotubularin-related protein 4 | DMEM, Dulbecco's modified Eagle's medium | DSP, dual-specificity phosphatase | GST, glutathione transferase | GFP, green fluorescent protein | LAMP, lysosome-associated membrane protein | BCA, bicinchoninic acid | PX, phox homology domain | XLMTM, X-linked myotubular myopathy | Accelerated Publication | HA, haemagglutinin | CCD, charge-coupled device | Nedd4, neural-precursor-cell-expressed developmentally down-regulated 4 | PTP, protein tyrosine phosphatase | HPRT, hypoxanthine–guanine phosphoribosyltransferase
Journal Article
Progress in Neurobiology, ISSN 0301-0082, 12/2012, Volume 99, Issue 3, pp. 191 - 225
► Intracellular traffic defects cause important human diseases. ► Mutations causing CMT often alter intracellular trafficking. ► Alterations of intracellular... 
Charcot–Marie–Tooth disease | Membrane traffic | Neurodegeneration | Intracellular traffic | Axon degeneration | Peripheral neuropathy | Polyneuropathy | Charcot-Marie-Tooth disease | DIFFERENTIATION-ASSOCIATED PROTEIN-1 | GUANINE-NUCLEOTIDE-EXCHANGE | PHOSPHATIDYLINOSITOL 3-PHOSPHATE 5-KINASE | ALPHA-B-CRYSTALLIN | NEUROSCIENCES | HEAT-SHOCK-PROTEIN | NERVE GROWTH-FACTOR | MYOTUBULARIN-RELATED PROTEIN-2 | TRANS-GOLGI NETWORK | MYELINATING SCHWANN-CELLS | TRANSFER-RNA-SYNTHETASE | Genetic Predisposition to Disease - genetics | Animals | Biological Transport | Humans | Intracellular Space - metabolism | Neurons - metabolism | Mutation - genetics | Charcot-Marie-Tooth Disease - metabolism | Charcot-Marie-Tooth Disease - diagnosis | Charcot-Marie-Tooth Disease - genetics | Heat shock proteins | Purines | Mitogens | Aquaporins | MTMRs, myotubularin-related proteins | PMP22, peripheral myelin protein 22 | Nedd4, neuronal precursor cell expressed developmentally downregulated 4 | LRSAM1, leucine repeat and sterile alpha motif containing 1 | late endosome | GDAP1, ganglioside induced differentiation associated protein-1 | NDRG1, N-myc downstream regulated gene 1 | KIF1b, kinesin family member 1β | Tsg101, tumor susceptibility gene 101 | MFN2, mitofusin 2 | SH3TC2, SH3 domain and tetratricopeptide repeats-containing protein 2 | HSPs, heat shock proteins | FYVE, Fab1p–YOTB–Vac1p–EEA1 | MVBs, multivesicular bodies | PH, pleckstrin homology | PtdIns, phosphatidylinositol | DENN, differentially expressed in neoplastic versus normal cells | SIMPLE, small integral membrane protein of lysosome | CMT, Charcot-Marie-Tooth | GEF, guanine nucleotide exchange factor | HMSN, hereditary motor and sensory neuropathy | OPA, optic atrophy proteins | DNM2, dynamin 2 | NEFL, neurofilament light polypetide | LITAF, lipopolysaccharide-induced TNF factor | PIs, phosphoinositides | SNAREs, soluble N-ethylmaleimide-sensitive factor attachment protein receptor
Journal Article