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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 | 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
Nature Biotechnology, ISSN 1087-0156, 12/2012, Volume 30, Issue 12, pp. 1225 - 1231
Lysosomal storage diseases are treated with human lysosomal enzymes produced in mammalian cells. Such enzyme therapeutics contain relatively low levels of... 
N-LINKED OLIGOSACCHARIDES | POMPE-DISEASE | YARROWIA-LIPOLYTICA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | STORAGE DISORDERS | ACID ALPHA-GLUCOSIDASE | PICHIA-PASTORIS | FABRY-DISEASE | SACCHAROMYCES-CEREVISIAE | MANNOSE 6-PHOSPHATE RECEPTORS | Biotechnology | Lysosomal Storage Diseases - enzymology | Glycoside Hydrolases - genetics | Humans | Lysosomes - enzymology | Molecular Sequence Data | Glycogen Storage Disease Type II - drug therapy | Pichia - enzymology | Glycogen Storage Disease Type II - enzymology | Arthrobacter - genetics | Biological Transport, Active | Lysosomal Storage Diseases - drug therapy | Glycoside Hydrolases - chemistry | Yarrowia - enzymology | Arthrobacter - enzymology | Yarrowia - genetics | Disease Models, Animal | Recombinant Proteins - metabolism | Mutagenesis, Site-Directed | Glycogen Storage Disease Type II - genetics | Bacterial Proteins - genetics | Catalytic Domain - genetics | Lysosomal Storage Diseases - genetics | Models, Molecular | Recombinant Proteins - genetics | Mice, Knockout | alpha-Glucosidases - genetics | Animals | Mannosephosphates - metabolism | alpha-Glucosidases - deficiency | Pichia - genetics | Bacterial Proteins - metabolism | Protein Conformation | Mice | Glycoside Hydrolases - metabolism | alpha-Glucosidases - metabolism | Physiological aspects | Lysosomes | Enzymes | Glycosidases | Bacteria | Biosynthesis | Biochemistry | Yeast | Metabolic disorders
Journal Article
Journal of Neurology, ISSN 0340-5354, 1/2010, Volume 257, Issue 1, pp. 91 - 97
Journal Article
Journal of Neurology, ISSN 0340-5354, 08/2005, Volume 252, Issue 8, pp. 875 - 884
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 05/2013, Volume 5, Issue 5, pp. 691 - 706
A recently proposed therapeutic approach for lysosomal storage disorders (LSDs) relies upon the ability of transcription factor EB (TFEB) to stimulate... 
Pompe disease | TFEB | autophagy | acid alpha‐glucosidase | lysosomal storage | Acid alpha-glucosidase | Lysosomal storage | Autophagy | MEDICINE, RESEARCH & EXPERIMENTAL | EXOCYTOSIS | CHOLESTEROL ACCUMULATION | SATELLITE CELLS | LYSOSOMAL STORAGE DISORDERS | acid alpha-glucosidase | SKELETAL-MUSCLE | BIOGENESIS | MOUSE MODEL | ENZYME REPLACEMENT THERAPY | Cells, Cultured | Muscle, Skeletal - ultrastructure | Genetic Vectors - metabolism | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - chemistry | Muscle, Skeletal - metabolism | Exocytosis | Muscle, Skeletal - cytology | Glycogen Storage Disease Type II - pathology | Genetic Vectors - genetics | Mice, Knockout | Glycogen Storage Disease Type II - enzymology | alpha-Glucosidases - genetics | Animals | Glycogen - metabolism | Lysosomes - metabolism | alpha-Glucosidases - deficiency | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Adenoviridae - genetics | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - metabolism | Mice | alpha-Glucosidases - metabolism | Disease Models, Animal | Glucose metabolism | Enzymes | Glycogen | Analysis | Stem cells | Muscles | Health aspects | Cell culture | Animal models | Transcription factors | Disease | Therapeutic applications | Lysosomal storage diseases | Metabolism | Experiments | Skeletal muscle | Storage diseases | Musculoskeletal system | Pathology | Laboratory animals | Vacuoles | Phagocytosis | Myopathy
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 88 - 88
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 | Physical Activity and Inactivity | Obesity, Diabetes and Energy Homeostasis
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. 85 - 91
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2009, Volume 360, Issue 2, pp. 194 - 195
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 305 - 314
Journal Article