Related references
Note: Only part of the references are listed.Sulforaphane Activates a lysosome-dependent transcriptional program to mitigate oxidative stress
Dan Li et al.
AUTOPHAGY (2021)
The rapidly evolving view of lysosomal storage diseases
Giancarlo Parenti et al.
EMBO MOLECULAR MEDICINE (2021)
Impaired autophagy: The collateral damage of lysosomal storage disorders
Rachel Myerowitz et al.
EBIOMEDICINE (2021)
Lysosomes as dynamic regulators of cell and organismal homeostasis
Andrea Ballabio et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2020)
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease
Dwight D. Koeberl et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase
Umut Cagin et al.
MOLECULAR THERAPY (2020)
Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients
Esther Poelman et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2020)
Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease
Naresh Kumar Meena et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2020)
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder
Naresh K. Meena et al.
BIOMOLECULES (2020)
Edaravone for the treatment of amyotrophic lateral sclerosis
Hiide Yoshino
EXPERT REVIEW OF NEUROTHERAPEUTICS (2019)
An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond
Aditi Korlimarla et al.
ANNALS OF TRANSLATIONAL MEDICINE (2019)
Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy
Barry J. Byrne et al.
ANNALS OF TRANSLATIONAL MEDICINE (2019)
AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the Hypoglossal Motor System of Pompe Mice
Brendan M. Doyle et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2019)
Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease
Laurike Harlaar et al.
NEUROLOGY (2019)
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis
O. Musumeci et al.
EUROPEAN JOURNAL OF NEUROLOGY (2019)
Idebenone Alleviates Neuroinflammation and Modulates Microglial Polarization in LPS-Stimulated BV2 Cells and MPTP-Induced Parkinson's Disease Mice
Aijuan Yan et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2019)
Improved efficacy of a next-generation ERT in murine Pompe disease
Su Xu et al.
JCI INSIGHT (2019)
FOXO1, a Potential Therapeutic Target, Regulates Autophagic Flux, Oxidative Stress, Mitochondria! Dysfunction, and Apoptosis in Human Cholangiocarcinoma QBC939 Cells
Wei He et al.
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2018)
Protein phosphatase 2A stimulates activation of TFEB and TFE3 transcription factors in response to oxidative stress
Jose A. Martina et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapyKeywords
Jan C. van der Meijden et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Overview on the Effects of N-Acetylcysteine in Neurodegenerative Diseases
Giuseppe Tardiolo et al.
MOLECULES (2018)
Carotenoids in fresh and processed tomato (Solanum lycopersicum) fruits protect cells from oxidative stress injury
Rita Del Giudice et al.
JOURNAL OF THE SCIENCE OF FOOD AND AGRICULTURE (2017)
Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated With Cardiac and Skeletal Muscle Pathology
Yohei Sato et al.
STEM CELLS TRANSLATIONAL MEDICINE (2017)
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology
Elisa Goina et al.
MOLECULAR THERAPY (2017)
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α
Priya Kishnani et al.
MOLECULAR THERAPY (2017)
Long-term benefit of enzyme replacement therapy in Pompe disease A 5-year prospective study
Esther Kuperus et al.
NEUROLOGY (2017)
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Barry J. Byrne et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Lysosomes as Oxidative Targets for Cancer Therapy
Rebecca F. Dielschneider et al.
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY (2017)
Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase
Francesco Puzzo et al.
SCIENCE TRANSLATIONAL MEDICINE (2017)
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease
Veronique Roig-Zamboni et al.
NATURE COMMUNICATIONS (2017)
Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease
Erik van der Wal et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2017)
Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease
Manuela Corti et al.
HUMAN GENE THERAPY CLINICAL DEVELOPMENT (2017)
Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders
Karolina M. Stepien et al.
JOURNAL OF CLINICAL MEDICINE (2017)
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease
Francesca Gatto et al.
SCIENTIFIC REPORTS (2017)
N-Acetylcysteine Influence on Oxidative Stress and Cardiac Remodeling in Rats During Transition from Compensated Left Ventricular Hypertrophy to Heart Failure
David R. A. Reyes et al.
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2017)
MCOLN1 is a ROS sensor in lysosomes that regulates autophagy
Xiaoli Zhang et al.
NATURE COMMUNICATIONS (2016)
Inhibition of the Mechanistic Target of Rapamycin (mTOR)-Rapamycin and Beyond
Dudley W. Lamming
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2016)
Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease
Jeong-A Lim et al.
AUTOPHAGY (2015)
The molecular targets of resveratrol
Sameer S. Kulkarni et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2015)
Up-regulation of lysosomal TRPML1 channels is essential for lysosomal adaptation to nutrient starvation
Wuyang Wang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Oxidative stress and autophagy: the clash between damage and metabolic needs
G. Filomeni et al.
CELL DEATH AND DIFFERENTIATION (2015)
Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease
J. C. van der Meijden et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease
Carin M. van Gelder et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
Sodium arsenite induces ROS-dependent autophagic cell death in pancreatic β-cells
Xue-Xin Zhu et al.
FOOD AND CHEMICAL TOXICOLOGY (2014)
The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.
K Wyatt et al.
HEALTH TECHNOLOGY ASSESSMENT (2014)
Lentiviral Hematopoietic Stem Cell Gene Therapy in Inherited Metabolic Disorders
Gerard Wagemaker
HUMAN GENE THERAPY (2014)
A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy
Giancarlo Parenti et al.
MOLECULAR THERAPY (2014)
N-Acetylcysteine Attenuates Ischemia-Reperfusion-Induced Apoptosis and Autophagy in Mouse Liver via Regulation of the ROS/JNK/Bcl-2 Pathway
Chengfen Wang et al.
PLOS ONE (2014)
The Nutrient-Responsive Transcription Factor TFE3 Promotes Autophagy, Lysosomal Biogenesis, and Clearance of Cellular Debris
Jose A. Martina et al.
SCIENCE SIGNALING (2014)
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV
Cheng-Chang Chen et al.
NATURE COMMUNICATIONS (2014)
Pompe disease: from pathophysiology to therapy and back again
Jeong-A Lim et al.
FRONTIERS IN AGING NEUROSCIENCE (2014)
The chemistry and biological activities of N-acetylcysteine
Yuval Samuni et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2013)
Vitamin E Prevents Hyperoxia-Induced Loss of Soluble N-Ethylmaleimide-Sensitive Fusion Protein Attachment Protein Receptor Proteins in the Rat Neuronal Cytoplasm
Nozomi Kaneai et al.
BIOLOGICAL & PHARMACEUTICAL BULLETIN (2013)
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
Carmine Spampanato et al.
EMBO MOLECULAR MEDICINE (2013)
The Efficacy of Edaravone (Radicut), a Free Radical Scavenger, for Cardiovascular Disease
Kiyoshi Kikuchi et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2013)
Pompe Disease: Early Diagnosis and Early Treatment Make a Difference
Yin-Hsiu Chien et al.
PEDIATRICS AND NEONATOLOGY (2013)
Infantile Pompe disease on ERT-Update on clinical presentation, musculoskeletal management, and exercise considerations
Laura E. Case et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten
Nina Raben et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients
Anna Chiara Nascimbeni et al.
AUTOPHAGY (2012)
Oxidative Stress Triggers Ca2+-Dependent Lysosome Trafficking and Activation of Acid Sphingomyelinase
Xiang Li et al.
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2012)
The emerging phenotype of long-term survivors with infantile Pompe disease
Sean N. Prater et al.
GENETICS IN MEDICINE (2012)
Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
Frances M. Platt et al.
JOURNAL OF CELL BIOLOGY (2012)
Improvements in skeletal muscle strength and cardiac function induced by resveratrol during exercise training contribute to enhanced exercise performance in rats
Vernon W. Dolinsky et al.
JOURNAL OF PHYSIOLOGY-LONDON (2012)
Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine
Caterina Porto et al.
MOLECULAR THERAPY (2012)
Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release
Dongbiao Shen et al.
NATURE COMMUNICATIONS (2012)
Insights into the fate of the N-terminal amyloidogenic polypeptide of ApoA-I in cultured target cells
Angela Arciello et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2011)
Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease
N. A. M. E. van der Beek et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle
Dwight D. Koeberl et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: Results from a 12 month, double-blind, randomized placebo-controlled trial
Gunnar M. Buyse et al.
NEUROMUSCULAR DISORDERS (2011)
Under the ROS ... Thiol network is the principal suspect for autophagy commitment
Giuseppe Filomeni et al.
AUTOPHAGY (2010)
Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype
Niek P. van Til et al.
BLOOD (2010)
Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders
Alessandro Fraldi et al.
EMBO JOURNAL (2010)
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
Priya S. Kishnani et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Molecular Imaging of Lipid Peroxyl Radicals in Living Cells with a BODIPY-α-Tocopherol Adduct
Armen Khatchadourian et al.
BIOCHEMISTRY (2009)
The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts
Caterina Porto et al.
MOLECULAR THERAPY (2009)
Glycoengineered Acid alpha-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease
Yunxiang Zhu et al.
MOLECULAR THERAPY (2009)
The novel antioxidant edaravone: From bench to bedside
Toshiaki Watanabe et al.
CARDIOVASCULAR THERAPEUTICS (2008)
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II
Gaelle Douillard-Guilloux et al.
HUMAN MOLECULAR GENETICS (2008)
Lysosomal storage disease 2 - Pompe's disease
Ans T. van der Ploeg et al.
LANCET (2008)
Mitochondrial dysfunction and molecular pathways of disease
Steve R. Pieczenik et al.
EXPERIMENTAL AND MOLECULAR PATHOLOGY (2007)
Reactive oxygen species are essential for autophagy and specifically regulate the activity of Atg4
Ruth Scherz-Shouval et al.
EMBO JOURNAL (2007)
The use of differential scanning fluorimetry to detect ligand interactions that promote protein stability
Frank H. Niesen et al.
NATURE PROTOCOLS (2007)
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease
Beth L. Thurberg et al.
LABORATORY INVESTIGATION (2006)
Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease
Tokiko Fukuda et al.
MOLECULAR THERAPY (2006)
Development by self-digestion: Molecular mechanisms and biological functions of autophagy
B Levine et al.
DEVELOPMENTAL CELL (2004)
Long term intravenous treatment of Pompe disease with recombinant human α-glucosidase from milk
JMP Van den Hout et al.
PEDIATRICS (2004)
Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia
P Rustin et al.
FREE RADICAL RESEARCH (2002)
SNAREs are concentrated in cholesterol-dependent clusters that define docking and fusion sites for exocytosis
T Lang et al.
EMBO JOURNAL (2001)
Cell biology - Autophagy as a regulated pathway of cellular degradation
DJ Klionsky et al.
SCIENCE (2000)
Recombinant human α-glucosidase from rabbit milk in Pompe patients
H Van den Hout et al.
LANCET (2000)