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Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2017, Volume 127, Issue 2, pp. 549 - 563
Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the... 
MEDICINE, RESEARCH & EXPERIMENTAL | SKELETAL-MUSCLE | MESSENGER-RNA | RYANODINE RECEPTOR | PROTEIN-KINASE | EXPANDED CUG REPEATS | MUSCULAR-DYSTROPHIES | BINDING PROTEIN | AMPK ACTIVATION | MOUSE MODELS | CHLORIDE CHANNELOPATHY | AMP-Activated Protein Kinases - metabolism | TOR Serine-Threonine Kinases - metabolism | Humans | Middle Aged | Male | Multiprotein Complexes - genetics | Aminoimidazole Carboxamide - pharmacology | Mechanistic Target of Rapamycin Complex 1 | Multiprotein Complexes - antagonists & inhibitors | Ribonucleotides - pharmacology | TOR Serine-Threonine Kinases - antagonists & inhibitors | Multiprotein Complexes - metabolism | TOR Serine-Threonine Kinases - genetics | Mice, Mutant Strains | Myotonic Dystrophy - genetics | Adult | Female | Myotonic Dystrophy - enzymology | Disease Models, Animal | Myotonin-Protein Kinase - metabolism | Signal Transduction - genetics | Sirolimus - pharmacokinetics | Sirolimus - pharmacology | Myotonin-Protein Kinase - genetics | Myotonic Dystrophy - physiopathology | Animals | Aminoimidazole Carboxamide - analogs & derivatives | Signal Transduction - drug effects | Muscle Relaxation - genetics | Myotonic Dystrophy - drug therapy | Mice | Muscle Relaxation - drug effects | AMP-Activated Protein Kinases - genetics | Muscle Fibers, Skeletal - enzymology | Care and treatment | Myotonic dystrophy | Development and progression | Genetic aspects | Cellular signal transduction | Gene expression | Health aspects | Protein kinases | Phosphorylation | Disease | Genes | Colleges & universities | Kinases | Metabolism | Proteins | Pathology | Musculoskeletal system | Microscopy | Biopsy | Rodents | Fibroblasts
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2008, Volume 105, Issue 7, pp. 2646 - 2651
Severe skeletal muscle wasting is the most debilitating symptom experienced by individuals with myotonic dystrophy type 1 (DM1). We present a DM1 mouse model... 
Alternative splicing | Messenger RNA | Splicing | RNA | Myotonic dystrophy | Tissue samples | Exons | Muscles | Gene expression regulation | Skeletal muscle | CUG-binding protein 1 | Muscle atrophy | Microsatellite expansion | Muscleblind-like 1 | alternative splicing | MULTIDISCIPLINARY SCIENCES | RECEPTOR | muscleblind-like 1 | BINDING PROTEIN | CUGBP1 | PRE-MESSENGER-RNA | OVEREXPRESSION | IN-VIVO | microsatellite expansion | NUCLEAR FOCI | MICE | muscle atrophy | STRIATED-MUSCLE | TYPE-1 | Muscle, Skeletal - enzymology | Myotonin-Protein Kinase | Protein-Serine-Threonine Kinases - genetics | 3' Untranslated Regions - genetics | CELF1 Protein | Disease Progression | Gene Expression Regulation, Enzymologic | Myotonic Dystrophy - pathology | Animals | Base Sequence | RNA Splicing - genetics | Sensitivity and Specificity | Myotonic Dystrophy - genetics | Mice | Myotonic Dystrophy - enzymology | Protein-Serine-Threonine Kinases - metabolism | RNA-Binding Proteins - metabolism | Disease Models, Animal | Influence | Models | Genetic aspects | Genetic engineering | Properties | Binding proteins | Muscular dystrophy | Myotonic Dystrophy | Protein-Serine-Threonine Kinases | Biochemistry, Molecular Biology | RNA-Binding Proteins | Life Sciences | RNA Splicing | Muscle, Skeletal | 3' Untranslated Regions | Molecular biology | Biological Sciences
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, Issue 6, pp. 378 - 385
Sarcoplasmic/endoplasmic reticulum Ca(2+) ATPase (SERCA) pumps play the major role in lowering cytoplasmic calcium concentration in skeletal muscle by... 
Hypothyroidism - pathology | Muscle, Skeletal - enzymology | Sarcoplasmic Reticulum Calcium-Transporting ATPases - metabolism | Isoenzymes | Humans | Middle Aged | Male | Young Adult | Myotonic Dystrophy - pathology | Adult | Female | Hypothyroidism - enzymology | Muscle, Skeletal - pathology | Myotonic Dystrophy - enzymology
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2013, Volume 110, Issue 33, pp. 13570 - 13575
Journal Article
Journal Article