A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells
出版年份 2017 全文链接
标题
A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells
作者
关键词
-
出版物
Scientific Reports
Volume 7, Issue 1, Pages -
出版商
Springer Nature
发表日期
2017-10-12
DOI
10.1038/s41598-017-14063-y
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated with Cardiac and Skeletal Muscle Pathology
- (2016) Yohei Sato et al. Stem Cells Translational Medicine
- TFEB overexpression promotes glycogen clearance of Pompe disease iPSC-derived skeletal muscle
- (2016) Yohei Sato et al. Molecular Therapy-Methods & Clinical Development
- Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells
- (2015) Emi Shoji et al. Scientific Reports
- Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient
- (2015) Yohei Sato et al. Molecular Therapy-Methods & Clinical Development
- Suppression of mTORC1 activation in acid-α-glucosidase-deficient cells and mice is ameliorated by leucine supplementation
- (2014) Adi Shemesh et al. AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY
- Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency
- (2014) Tetsuhiko Yasuno et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Pompe Disease Results in a Golgi-based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes
- (2014) Kunil K. Raval et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Derivation of Myogenic Progenitors Directly From Human Pluripotent Stem Cells Using a Sphere-Based Culture
- (2014) Tohru Hosoyama et al. Stem Cells Translational Medicine
- Myogenic Differentiation of Muscular Dystrophy-Specific Induced Pluripotent Stem Cells for Use in Drug Discovery
- (2014) Ramzey Abujarour et al. Stem Cells Translational Medicine
- Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease
- (2013) Laura D. Osellame et al. Cell Metabolism
- A Small Molecule Screen in Stem-Cell-Derived Motor Neurons Identifies a Kinase Inhibitor as a Candidate Therapeutic for ALS
- (2013) Yin M. Yang et al. Cell Stem Cell
- Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
- (2013) Carmine Spampanato et al. EMBO Molecular Medicine
- Glycogen synthase kinase-3β positively regulates protein synthesis and cell proliferation through the regulation of translation initiation factor 4E-binding protein 1
- (2013) S Shin et al. ONCOGENE
- Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro
- (2013) Akihito Tanaka et al. PLoS One
- Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques
- (2012) Sarah P. Young et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Glycogen and its metabolism: some new developments and old themes
- (2012) Peter J. Roach et al. BIOCHEMICAL JOURNAL
- A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
- (2012) Carmine Settembre et al. EMBO JOURNAL
- Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases
- (2012) Raquel de Pablo-Latorre et al. HUMAN MOLECULAR GENETICS
- Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease
- (2012) Yurika Nishiyama et al. MOLECULAR GENETICS AND METABOLISM
- Selective Development of Myogenic Mesenchymal Cells from Human Embryonic and Induced Pluripotent Stem Cells
- (2012) Tomonari Awaya et al. PLoS One
- An Efficient Nonviral Method to Generate Integration-Free Human-Induced Pluripotent Stem Cells from Cord Blood and Peripheral Blood Cells
- (2012) Keisuke Okita et al. STEM CELLS
- The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
- (2011) Suhrad G. Banugaria et al. GENETICS IN MEDICINE
- Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
- (2011) Hsiang-Po Huang et al. HUMAN MOLECULAR GENETICS
- 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
- (2011) Shiho Kawagoe et al. MOLECULAR GENETICS AND METABOLISM
- Diseases in a dish: modeling human genetic disorders using induced pluripotent cells
- (2011) Gustavo Tiscornia et al. NATURE MEDICINE
- Myopathy caused by mammalian target of rapamycin complex 1 (mTORC1) inactivation is not reversed by restoring mitochondrial function
- (2011) K. Romanino et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- mTORC1 Senses Lysosomal Amino Acids Through an Inside-Out Mechanism That Requires the Vacuolar H+-ATPase
- (2011) R. Zoncu et al. SCIENCE
- TFEB Links Autophagy to Lysosomal Biogenesis
- (2011) C. Settembre et al. SCIENCE
- Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy
- (2010) Nina Raben et al. MOLECULAR GENETICS AND METABOLISM
- Promotion of direct reprogramming by transformation-deficient Myc
- (2010) M. Nakagawa et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- mTORC1-Mediated Cell Proliferation, But Not Cell Growth, Controlled by the 4E-BPs
- (2010) R. J. O. Dowling et al. SCIENCE
- Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy
- (2009) Valérie Risson et al. JOURNAL OF CELL BIOLOGY
- Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches
- (2009) Shoichi Takikita et al. MOLECULAR GENETICS AND METABOLISM
- Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
- (2009) Priya S. Kishnani et al. MOLECULAR GENETICS AND METABOLISM
- Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
- (2009) Y.-H. Chien et al. PEDIATRICS
- Skeletal Muscle-Specific Ablation of raptor, but Not of rictor, Causes Metabolic Changes and Results in Muscle Dystrophy
- (2008) C. Florian Bentzinger et al. Cell Metabolism
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