| scholarly article | Q13442814 |
| P50 | author | Robert J. Mattaliano | Q117864906 |
| P2093 | author name string | Evelyn Ralston | |
| Nina Raben | |||
| Ashley Roberts | |||
| Tokiko Fukuda | |||
| Paul H Plotz | |||
| Kristien Zaal | |||
| Meghan Ahearn | |||
| P2860 | cites work | Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients | Q34554310 |
| The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature | Q35191008 | ||
| Autophagy: a regulated bulk degradation process inside cells | Q35610897 | ||
| Enzyme replacement therapy for lysosomal storage disorders: successful transition from concept to clinical practice. | Q35760950 | ||
| Oxidative stress and autophagy | Q36399782 | ||
| Oxidative stress, accumulation of biological 'garbage', and aging | Q36399803 | ||
| Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up | Q39218884 | ||
| Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. | Q40483409 | ||
| Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk | Q40534571 | ||
| Photo-Oxidative Disruption of Lysosomal Membranes Causes Apoptosis of Cultured Human Fibroblasts | Q41138991 | ||
| A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease | Q44312356 | ||
| Enzyme replacement therapy in the mouse model of Pompe disease | Q44624370 | ||
| Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor | Q45133882 | ||
| Relationship between muscle fiber types and sizes and muscle architectural properties in the mouse hindlimb | Q46864051 | ||
| Disease severity in children and adults with Pompe disease related to age and disease duration | Q47772980 | ||
| Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial | Q47869064 | ||
| Expression of the insulin-like growth factor-II/mannose-6-phosphate receptor in multiple human tissues during fetal life and early infancy | Q48451733 | ||
| Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. | Q50736816 | ||
| Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice | Q51837409 | ||
| Endocytosis in Skeletal Muscle Fibers | Q57274193 | ||
| Culturing satellite cells from living single muscle fiber explants | Q70906074 | ||
| Uptake and stability of human and bovine acid α-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients | Q72827634 | ||
| Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy | Q73437316 | ||
| Age-related morphological changes in skeletal muscle cells of acid alpha-glucosidase knockout mice | Q82056971 | ||
| In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker | Q24633015 | ||
| Autophagy: molecular machinery for self-eating | Q24678361 | ||
| Mannose 6-phosphate receptors: new twists in the tale | Q28213265 | ||
| Human lysosomal alpha-glucosidase. Characterization of the catalytic site | Q28284324 | ||
| Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease | Q28509950 | ||
| Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II | Q28592264 | ||
| Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation | Q28637574 | ||
| Autophagy as a regulated pathway of cellular degradation | Q29547914 | ||
| The biogenesis of lysosomes | Q29617860 | ||
| Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial | Q33941289 | ||
| Lipofuscin: mechanisms of age-related accumulation and influence on cell function | Q34147322 | ||
| Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors | Q34236758 | ||
| Lipofuscin | Q34321294 | ||
| P433 | issue | 6 | |
| P921 | main subject | autophagy | Q288322 |
| P304 | page(s) | 831-839 | |
| P577 | publication date | 2006-09-27 | |
| P1433 | published in | Molecular Therapy | Q15762400 |
| P1476 | title | Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease | |
| P478 | volume | 14 |
| Q37610585 | "Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders |
| Q42677230 | A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells |
| Q44403697 | AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease |
| Q43188193 | Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts |
| Q36705466 | Acid alpha-glucosidase deficiency (Pompe disease). |
| Q84577956 | Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases |
| Q53811463 | Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease. |
| Q45882322 | Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease |
| Q90380343 | Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases |
| Q35570319 | Assessment of the effect of laser irradiations at different wavelengths (660, 810, 980, and 1064 nm) on autophagy in a rat model of mucositis. |
| Q37784816 | Autophagy Shapes Inflammation |
| Q27015911 | Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten |
| Q26866165 | Autophagy in cardiovascular biology |
| Q24601671 | Autophagy in lysosomal storage disorders |
| Q34170362 | Autophagy in skeletal muscle: implications for Pompe disease |
| Q27860558 | Autophagy in the Pathogenesis of Disease |
| Q36808427 | Autophagy mediated CoCrMo particle-induced peri-implant osteolysis by promoting osteoblast apoptosis |
| Q37414571 | Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease |
| Q90293280 | Biomedical Implications of Autophagy in Macromolecule Storage Disorders |
| Q51771787 | Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. |
| Q24620532 | Clarifying lysosomal storage diseases |
| Q92191095 | DeepNEU: Artificially Induced Stem Cell (aiPSC) and Differentiated Skeletal Muscle Cell (aiSkMC) Simulations of Infantile Onset POMPE Disease (IOPD) for Potential Biomarker Identification and Drug Discovery |
| Q35853122 | Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease |
| Q34349099 | Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy |
| Q38877509 | Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. |
| Q28486167 | Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease |
| Q54310178 | Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up. |
| Q45873897 | Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation |
| Q33824545 | Exercise ameliorates the detrimental effect of chloroquine on skeletal muscles in mice via restoring autophagy flux |
| Q33778251 | Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle |
| Q84443035 | Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells |
| Q38356012 | Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease |
| Q42817633 | Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification |
| Q33946163 | Immunomodulatory gene therapy in lysosomal storage disorders |
| Q36754605 | Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression |
| Q64122273 | Improved efficacy of a next-generation ERT in murine Pompe disease |
| Q36633022 | Induced pluripotent stem cell technology for disease modeling and drug screening with emphasis on lysosomal storage diseases |
| Q64244491 | Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease |
| Q91580705 | Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments |
| Q61063601 | Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report |
| Q64042342 | Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II |
| Q36771137 | Lysosomal Storage Diseases-Regulating Neurodegeneration |
| Q37739706 | Lysosomal storage disease: revealing lysosomal function and physiology. |
| Q38793219 | Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease |
| Q33722241 | Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated with Cardiac and Skeletal Muscle Pathology |
| Q37159173 | Monitoring autophagy in lysosomal storage disorders |
| Q24647307 | Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches |
| Q45855941 | Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction |
| Q26851649 | New insights into therapeutic options for Pompe disease |
| Q35214286 | Pharmacological chaperone therapy for lysosomal storage diseases |
| Q41912890 | Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine |
| Q36934500 | Pompe disease: current state of treatment modalities and animal models. |
| Q84575770 | Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients |
| Q34054935 | Pompe disease: from pathophysiology to therapy and back again |
| Q37302098 | Pompe's disease |
| Q45857382 | Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. |
| Q92487772 | Pros and cons of different ways to address dysfunctional autophagy in Pompe disease |
| Q30438813 | Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. |
| Q47301525 | Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase. |
| Q43230362 | Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease. |
| Q34171689 | Role of autophagy in the pathogenesis of Pompe disease. |
| Q58085848 | Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II) |
| Q38165741 | Skeletal muscle, autophagy, and physical activity: the ménage à trois of metabolic regulation in health and disease. |
| Q48733264 | Spinal fusion as a viable treatment option for scoliosis management in Pompe disease: a postoperative 3-year follow-up |
| Q42645986 | Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease. |
| Q37089630 | Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease |
| Q34577206 | Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease |
| Q34519309 | Suppression of mTORC1 activation in acid-α-glucosidase-deficient cells and mice is ameliorated by leucine supplementation |
| Q83081312 | Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease |
| Q64976486 | Targeting autophagy using metallic nanoparticles: a promising strategy for cancer treatment. |
| Q42403394 | The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa |
| Q43253618 | The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase |
| Q39508157 | The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts |
| Q44468327 | The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry |
| Q37479842 | The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients |
| Q88876397 | Therapeutic Benefit of Autophagy Modulation in Pompe Disease |
| Q37127561 | Therapeutic advances in the management of Pompe disease and other metabolic myopathies |
| Q37329535 | Therapeutic approaches in glycogen storage disease type II/Pompe Disease. |
| Q36870093 | Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease |
| Q37668227 | Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics |
| Q38046227 | Treatment options for lysosomal storage disorders: developing insights |
| Q93028566 | Vacuolar hydrolysis and efflux: current knowledge and unanswered questions |
| Q36941481 | WITHDRAWN: Clearance of lysosomal glycogen accumulation by Transcription factor EB (TFEB) in muscle cells from lysosomal alpha-glucosidase deficient mice |
| Q35670670 | When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease |
| Q26851723 | Why should autophagic flux be assessed? |
| Q58100730 | Zidovudine-mediated autophagy inhibition enhances mitochondrial toxicity in muscle cells |
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