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Journal of Biological Chemistry, ISSN 0021-9258, 10/2008, Volume 283, Issue 41, pp. 27410 - 27417
Journal Article
American journal of physiology. Regulatory, integrative and comparative physiology, ISSN 0363-6119, 11/2014, Volume 307, Issue 10, pp. R1251 - R1259
Pompe disease is due to a deficiency in acid-alpha-glucosidase (GAA) and results in debilitating skeletal muscle wasting, characterized by the accumulation of... 
leucine | Pompe disease | α-glucosidase | lysosome | mTORC1 | muscle | DISEASE TYPE-II | POMPE-DISEASE | PHYSIOLOGY | STORAGE-DISEASE | AUTOPHAGY | DIET-INDUCED OBESITY | SKELETAL-MUSCLE | 3-METHYLHISTIDINE | alpha-glucosidase | AMINO-ACIDS | RHEB BINDS | S6 KINASE | Fibroblasts - enzymology | TOR Serine-Threonine Kinases - metabolism | Humans | Lysosomes - enzymology | Motor Activity - drug effects | Glycogen Storage Disease Type II - drug therapy | Muscular Atrophy - enzymology | Glycogen Storage Disease Type II - pathology | Mechanistic Target of Rapamycin Complex 1 | Dose-Response Relationship, Drug | Glycogen Storage Disease Type II - enzymology | Multiprotein Complexes - metabolism | Myoblasts - drug effects | Glycogen - metabolism | Muscular Atrophy - physiopathology | Transfection | RNA Interference | Muscle, Skeletal - drug effects | Muscular Atrophy - prevention & control | Disease Models, Animal | Lysosomes - drug effects | Cell Line | Insulin - pharmacology | Muscle, Skeletal - enzymology | Glycogen Storage Disease Type II - genetics | Dipeptides - pharmacology | Mice, Inbred C57BL | Muscular Atrophy - pathology | Glycogen Storage Disease Type II - physiopathology | Mice, Knockout | Kyphosis - enzymology | Kyphosis - prevention & control | alpha-Glucosidases - genetics | Animals | Kyphosis - physiopathology | alpha-Glucosidases - deficiency | Fibroblasts - drug effects | Muscle, Skeletal - physiopathology | Muscle, Skeletal - pathology | Dietary Supplements | Kyphosis - pathology | Myoblasts - enzymology | Index Medicus | Physical Activity and Inactivity | Obesity, Diabetes and Energy Homeostasis
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2018, Volume 13, Issue 5, pp. e0197254 - e0197254
Ankyrin repeat and kinase domain containing 1 (ANKK1) gene has been widely related to neuropsychiatry disorders. The localization of ANKK1 in neural... 
RIP KINASES | PROGENITOR CELLS | MIGRATION | SKELETAL-MUSCLE | CELL-ADHESION MOLECULE | MULTIDISCIPLINARY SCIENCES | GROWTH | MYOBLASTS | SATELLITE CELLS | DEATH | DIFFERENTIATION | Cell Hypoxia - physiology | Cell Proliferation | Humans | Middle Aged | Infant | Male | Stem Cells - cytology | Muscle Cells - enzymology | Muscle, Skeletal - cytology | Cell Nucleus - enzymology | Stem Cells - enzymology | Muscular Dystrophies - enzymology | Adult | Female | Child | Protein-Serine-Threonine Kinases - metabolism | Cell Line | Cytoplasm - enzymology | Muscle, Skeletal - enzymology | Muscle Cells - pathology | Muscle, Skeletal - growth & development | Mice, Inbred C57BL | Muscular Dystrophies - pathology | Muscle Cells - cytology | Animals | Stem Cells - pathology | Mice, Inbred BALB C | Muscle, Skeletal - pathology | Care and treatment | Abnormalities | Cell metabolism | Bones | Development and progression | Genetic aspects | Health aspects | Protein kinases | Laboratories | Neuropsychiatry | Gene regulation | mRNA | Satellite cells | Kinases | Muscular dystrophy | Cell adhesion & migration | Fibers | Proteins | Precursors | Rodents | Penicillin | Cell cycle | Bioindicators | Localization | Age | Berberine | Myotubes | Muscles | Metabolism | Gene expression | Embryos | Myogenesis | Myoblasts | Medicine | Musculoskeletal system | Isoforms | Cells (biology) | Glycolysis | Biomarkers | Neural stem cells | Hypoxia | Nuclei (cytology) | Mice | Ankyrin | Position (location) | Cytoplasm | Index Medicus
Journal Article
American Journal of Physiology - Cell Physiology, ISSN 0363-6143, 04/2018, Volume 314, Issue 4, pp. C415 - C427
Fibrosis is a common feature of several chronic diseases and is characterized by exacerbated accumulation of ECM. An understanding of the cellular and... 
Extracellular matrix | Skeletal muscle dystrophy | CTGF/CCN2 | Fibrosis | Integrins | skeletal muscle dystrophy | PHYSIOLOGY | TGF-BETA | LUNG INJURY | CELL BIOLOGY | DYSTROPHIC MUSCLE | integrins | TISSUE GROWTH-FACTOR | INHIBITION | LYSOPHOSPHATIDIC ACID | MOUSE MODEL | fibrosis | FOCAL ADHESION KINASE | DIFFERENTIATION | extracellular matrix | Fibroblasts - enzymology | Phosphorylation | Myoblasts - drug effects | Muscle, Skeletal - drug effects | Lysophospholipids - pharmacology | Mice, Inbred mdx | Focal Adhesion Kinase 1 - metabolism | Integrin alphaV - genetics | Integrin alphaV - metabolism | Disease Models, Animal | Cell Line | Muscle, Skeletal - enzymology | Extracellular Matrix - drug effects | Mice, Inbred C57BL | Muscular Dystrophy, Duchenne - enzymology | Muscular Dystrophy, Duchenne - pathology | Fibroblasts - pathology | Myoblasts - pathology | Extracellular Matrix - enzymology | Animals | Signal Transduction - drug effects | Cell Differentiation - drug effects | Fibroblasts - drug effects | Connective Tissue Growth Factor - genetics | Mice | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Extracellular Matrix - pathology | Connective Tissue Growth Factor - metabolism | Myoblasts - enzymology | Genetic aspects | Gene expression | Health aspects | Phosphotransferases | Index Medicus
Journal Article
JOURNAL OF BIOLOGICAL CHEMISTRY, ISSN 0021-9258, 01/2013, Volume 288, Issue 3, pp. 1428 - 1438
We have used a peptide-based targeting system to improve lysosomal delivery of acid alpha-glucosidase (GAA), the enzyme deficient in patients with Pompe... 
INSULIN | STORAGE | ALGLUCOSIDASE ALPHA | ENZYME | RECOMBINANT | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | DISEASE | II BINDING-SITE | MANNOSE 6-PHOSPHATE RECEPTOR | INFANTILE | Humans | Mutant Chimeric Proteins - genetics | Half-Life | Lysosomes - enzymology | Glycogen Storage Disease Type II - drug therapy | Receptor, IGF Type 2 - metabolism | Glycogen Storage Disease Type II - enzymology | Myoblasts - drug effects | Glycogen - metabolism | Insulin-Like Growth Factor II - genetics | Transfection | Muscle, Skeletal - drug effects | Mutant Chimeric Proteins - metabolism | HEK293 Cells | Biological Transport - drug effects | Disease Models, Animal | Lysosomes - drug effects | Glucan 1,4-alpha-Glucosidase - genetics | Muscle, Skeletal - enzymology | Glycogen Storage Disease Type II - genetics | Glycosylation | Myoblasts - pathology | Insulin-Like Growth Factor II - metabolism | Receptor, IGF Type 2 - agonists | Enzyme Replacement Therapy - methods | Animals | Plasmids | Glucan 1,4-alpha-Glucosidase - metabolism | Mice | Kinetics | Muscle, Skeletal - pathology | Drug Delivery Systems - methods | Myoblasts - enzymology | Index Medicus | Molecular Bases of Disease | Enzyme Replacement Therapy | Glycogen | CI-MPR | Pompe | Muscle | Receptor Endocytosis | Lysosomal Storage Disease | Muscular Dystrophy | Glycogen Storage Disease | IGF-II
Journal Article
Journal Article
Experimental Cell Research, ISSN 0014-4827, 2005, Volume 304, Issue 2, pp. 365 - 379
The bifunctional enzyme UDP- -acetylglucosamine-2-epimerase/ -acetylmannosamine kinase (GNE) is essential for early embryonic development and catalyzes the... 
Nocodazole | UDP- N-acetylglucosamine-2-epimerase/ N-acetylmannosamine kinase | Subcellular localization | Brefeldin A | Golgi | Hereditary inclusion body myopathy | HIBM | GNE | UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine | RAT-LIVER | UDP-N-ACETYLGLUCOSAMINE-2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | subcellular localization | hereditary inclusion body myopathy | nocodazole | CELL BIOLOGY | BIFUNCTIONAL ENZYME CATALYZES | ACETYLNEURAMINIC ACID BIOSYNTHESIS | ONCOLOGY | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | brefeldin A | MOLECULAR-CLONING | FIRST 2 STEPS | SIALIC ACIDS | BINDING | EXPRESSION | Golgi Apparatus - enzymology | Active Transport, Cell Nucleus - physiology | Humans | N-Acetylneuraminic Acid - biosynthesis | Myositis, Inclusion Body - congenital | Nocodazole - pharmacology | Multienzyme Complexes - metabolism | Brefeldin A - pharmacology | Protein Transport - physiology | Protein Transport - drug effects | Cell Nucleus - enzymology | Myositis, Inclusion Body - enzymology | Pluripotent Stem Cells | Antineoplastic Agents - pharmacology | Neoplasms - physiopathology | Protein Synthesis Inhibitors - pharmacology | Cytoplasm - enzymology | Muscle, Skeletal - enzymology | Muscle, Skeletal - growth & development | Jurkat Cells | Glycoconjugates - biosynthesis | Neoplasms - enzymology | Cell Compartmentation - physiology | Animals | Active Transport, Cell Nucleus - drug effects | K562 Cells | Mice | HeLa Cells | Myoblasts - enzymology | Embryonic development | Enzymes | Agglutinins | Physiological aspects | Universities and colleges | Sialic acids | Organic acids | Index Medicus | NEOPLASMS | ONTOGENESIS | MYOBLASTS | AGGLUTININS | IN VIVO | ANIMAL CELLS | WHEAT | 60 APPLIED LIFE SCIENCES | DISULFIDES | SIALIC ACID | PATHOGENESIS | BIOSYNTHESIS | ENZYMES | DRUGS | LIVER | CYTOPLASM | GENE REGULATION | MUTATIONS
Journal Article
American Journal of Physiology - Endocrinology And Metabolism, ISSN 0193-1849, 01/2010, Volume 298, Issue 1, pp. 117 - 126
In mammals, nicotinamide phosphoribosyltransferase (NAMPT) is responsible for the first and rate-limiting step in the conversion of nicotinamide to... 
Mitochondria | Adenosine monophosphate-activated protein kinase | Visfatin | Nicotinamide phosphoribosyltransferase | Pre-B cell colony-enhancing factor | Primary myotubes | CELLS | CAPACITY | nicotinamide phosphoribosyltransferase | primary myotubes | ENERGY | PHYSIOLOGY | ACTIVATED PROTEIN-KINASE | mitochondria | BIOGENESIS | INSULIN-RESISTANCE | ENDOCRINOLOGY & METABOLISM | COLONY-ENHANCING FACTOR | FAT | pre-B cell colony-enhancing factor | adenosine monophosphate-activated protein kinase | SERUM VISFATIN | visfatin | MITOCHONDRIAL OXIDATIVE-PHOSPHORYLATION | Mitochondria - enzymology | Life Style | Humans | Middle Aged | Diabetes Mellitus, Type 2 - metabolism | Muscle, Skeletal - cytology | Physical Endurance - physiology | RNA, Messenger - metabolism | Exercise Therapy | Young Adult | Myoblasts - drug effects | Nicotinamide Phosphoribosyltransferase - metabolism | Adenosine Triphosphate - metabolism | Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha | Diabetes Mellitus, Type 2 - therapy | Myoblasts - cytology | Adult | Cytokines - genetics | Sports | Muscle, Skeletal - enzymology | Cross-Sectional Studies | Cytokines - metabolism | Colforsin - pharmacology | Heat-Shock Proteins - metabolism | Cells, Cultured | Obesity - physiopathology | Obesity - metabolism | Transcription Factors - metabolism | Nicotinamide Phosphoribosyltransferase - genetics | Diabetes Mellitus, Type 2 - physiopathology | Signal Transduction - drug effects | Obesity - therapy | Signal Transduction - physiology | Exercise - physiology | Myoblasts - enzymology | Physiological aspects | Niacinamide | Exercise | Research | Transferases | Proteins | Musculoskeletal system | Signal transduction | T cell receptors | Gene expression | Athletes | Adenosine triphosphatase | Index Medicus
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 01/2014, Volume 1842, Issue 1, pp. 56 - 64
Mitochondrial aminoacyl-tRNA synthetases (aaRSs) are essential enzymes in protein synthesis since they charge tRNAs with their cognate amino acids. Mutations... 
Mitochondria | Aminoacylation | Aminoacyl-tRNA synthetase | Protein synthesis | Mitochondrial disease | Mitochondrial translation | HUMAN-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | BRAIN-STEM | SIDEROBLASTIC ANEMIA | MISSENSE MUTATIONS | PERRAULT SYNDROME | HEARING-LOSS | LEUKOENCEPHALOPATHY | BIOPHYSICS | CAUSES MYOPATHY | LACTIC-ACIDOSIS | DNA MUTATIONS | Mitochondria - enzymology | Humans | Child, Preschool | Molecular Sequence Data | Male | RNA, Messenger - metabolism | Electron Transport Complex IV - metabolism | Myoblasts - metabolism | Mitochondria - genetics | Cyclooxygenase 2 - genetics | RNA, Transfer - genetics | Epilepsy - genetics | Cytochrome-c Oxidase Deficiency - enzymology | Amino Acyl-tRNA Synthetases - metabolism | Fibroblasts - metabolism | Amino Acyl-tRNA Synthetases - genetics | Epilepsy - enzymology | Amino Acid Sequence | Cytochrome-c Oxidase Deficiency - pathology | Cyclooxygenase 1 - genetics | Cytochrome-c Oxidase Deficiency - complications | Gene Expression | Muscle, Skeletal - enzymology | RNA, Transfer - metabolism | RNA, Messenger - genetics | Electron Transport Complex IV - genetics | Mitochondria - pathology | Myoblasts - pathology | Epilepsy - complications | Cyclooxygenase 2 - metabolism | Fibroblasts - cytology | Cyclooxygenase 1 - metabolism | Muscle, Skeletal - pathology | Mutation | Cytochrome-c Oxidase Deficiency - genetics | Epilepsy - pathology | Cytochrome c | Phenylalanine | Analysis | Epilepsy | Cytochrome oxidase | Protein biosynthesis | Genetic aspects | Aminoacyl-tRNA synthetases | Transfer RNA | Protein binding
Journal Article
Cell Cycle, ISSN 1538-4101, 05/2015, Volume 14, Issue 9, pp. 1389 - 1402
Rhadomyosarcoma (RMS) is the most common soft tissue sarcoma of childhood. RMS cells resemble fetal myoblasts but are unable to complete myogenic... 
differentiation therapy | metabolism and cancer | miR-206 | Rhabdomyosarcoma | Differentiation therapy | MiR-206 | Metabolism and cancer | HMT, Histone MethylTransferase | PPP, Pentose Phosphate Pathway | MYOBLAST DIFFERENTIATION | MREs, MicroRNA Responsive Elements | DHEA, Dehydroepiandrosterone | DCA, Dichloroacetate | MRFs, Myogenic Regulatory Factors | DICHLOROACETATE DCA | CYCLIN D1 | G6PD, Glucose 6 Phosphate Dehydrogenase | myomiRs, muscle-specific microRNAs | MIR-206 | PDK, Pyruvate Dehydrogenase Kinase | CELL BIOLOGY | GLUCOSE-6-PHOSPHATE-DEHYDROGENASE | TARGET GENES | RMS, Rhabdomyosarcoma | ALVEOLAR RHABDOMYOSARCOMA | SKELETAL | TCA cycle, TriCarboxylic Acid cycle | PDH, Pyruvate Dehydrogenase | EXPRESSION | SMYD1, SET and MYND domain-containing protein 1 | HISTONE METHYLTRANSFERASE | Cell Proliferation | Humans | Gene Expression Regulation, Neoplastic | MicroRNAs - metabolism | DNA-Binding Proteins - metabolism | Rhabdomyosarcoma, Embryonal - genetics | Transfection | RNA Interference | Time Factors | Cell Transformation, Neoplastic - genetics | Muscle Proteins - metabolism | Rhabdomyosarcoma, Alveolar - pathology | Transcription, Genetic | Rhabdomyosarcoma, Embryonal - pathology | Rhabdomyosarcoma, Alveolar - drug therapy | Rhabdomyosarcoma, Alveolar - genetics | Rhabdomyosarcoma, Embryonal - enzymology | Signal Transduction | Rhabdomyosarcoma, Embryonal - drug therapy | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Myoblasts - pathology | Cell Transformation, Neoplastic - metabolism | Muscle Proteins - genetics | Transcription Factors - metabolism | Phenotype | Muscle Development - drug effects | Energy Metabolism | Rhabdomyosarcoma, Alveolar - enzymology | Cell Differentiation - drug effects | Dichloroacetic Acid - pharmacology | Muscle Fibers, Skeletal - pathology | Cell Line, Tumor | Glucosephosphate Dehydrogenase - metabolism | MicroRNAs - genetics | Glucosephosphate Dehydrogenase - genetics | Cell Transformation, Neoplastic - pathology | Myoblasts - enzymology | Muscle Fibers, Skeletal - enzymology | Index Medicus
Journal Article