Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Airway abnormalities in very early treated infantile‐onset Pompe disease: A large‐scale survey by flexible bronchoscopy

(2020) Chia‐Feng Yang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SnapShot: Lysosomal Storage Diseases

(2020) José A. Martina et al.   CELL

Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease

(2020) Stefan Hintze et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Rescue of advanced Pompe disease in mice with hepatic expression of secretable acid α-glucosidase

(2020) Umut Cagin et al.   MOLECULAR THERAPY

Pompe disease: pathogenesis, molecular genetics and diagnosis

(2020) Simona Taverna et al.   Aging-US

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

(2020) Stijn L.M. in ’t Groen et al.   Molecular Therapy-Methods & Clinical Development

Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease

(2020) Naresh Kumar Meena et al.   Molecular Therapy-Methods & Clinical Development

A genetic modifier of symptom onset in Pompe disease

(2019) Atze J. Bergsma et al.   EBioMedicine

Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease

(2019) Priya Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

Identification of serum microRNAs as potential biomarkers in Pompe disease

(2019) Ana Carrasco‐Rozas et al.   Annals of Clinical and Translational Neurology

Challenges in treating Pompe disease: an industry perspective

(2019) Hung V. Do et al.   Annals of Translational Medicine

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects

(2019) Antonio Toscano et al.   Annals of Translational Medicine

Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy

(2019) Barry J. Byrne et al.   Annals of Translational Medicine

Molecular genetics of Pompe disease: a comprehensive overview

(2019) Paolo Peruzzo et al.   Annals of Translational Medicine

Pompe disease: what are we missing?

(2019) Benedikt Schoser   Annals of Translational Medicine

Progress and challenges of gene therapy for Pompe disease

(2019) Giuseppe Ronzitti et al.   Annals of Translational Medicine

Long-term outcome and unmet needs in infantile-onset Pompe disease

(2019) Andreas Hahn et al.   Annals of Translational Medicine

Liver depot gene therapy for Pompe disease

(2019) Priya S. Kishnani et al.   Annals of Translational Medicine

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease

(2019) Jousef Alandy-dy et al.   Annals of Translational Medicine

An integrative correlation of myopathology, phenotype, and genotype in late onset Pompe disease

(2019) Martin Kulessa et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

(2019) Laurike Harlaar et al.   NEUROLOGY

Discontinuation of enzyme replacement therapy in adults with Pompe disease: evaluating the European POmpe Consortium stop criteria.

(2019) H.A. van Kooten et al.   NEUROMUSCULAR DISORDERS

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

(2018) Berendine J Ebbink et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

microRNAs as biomarkers in Pompe disease

(2018) Antonietta Tarallo et al.   GENETICS IN MEDICINE

Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy

(2018) Paul T. McIntosh et al.   MOLECULAR GENETICS AND METABOLISM

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease

(2018) Dwight D. Koeberl et al.   MOLECULAR THERAPY

Therapeutic Benefit of Autophagy Modulation in Pompe Disease

(2018) Jeong-A Lim et al.   MOLECULAR THERAPY

Pompe Disease: From Basic Science to Therapy

(2018) Lara Kohler et al.   Neurotherapeutics

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: a phase 1, open-label, multicenter, multinational, ascending dose study

(2018) Loren D.M. Pena et al.   NEUROMUSCULAR DISORDERS

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

(2018) Gerben J. Schaaf et al.   Acta Neuropathologica Communications

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II)

(2018) Lydie Lagalice et al.   Acta Neuropathologica Communications

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience

(2017) A. T. van der Ploeg et al.   EUROPEAN JOURNAL OF NEUROLOGY

Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease

(2017) Haiqing Yi et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

(2017) Mugdha V. Rairikar et al.   MOLECULAR GENETICS AND METABOLISM

The emerging phenotype of late-onset Pompe disease: A systematic literature review

(2017) Justin Chan et al.   MOLECULAR GENETICS AND METABOLISM

Newborn Screening for Pompe Disease

(2017) Olaf A. Bodamer et al.   PEDIATRICS

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase

(2017) Francesco Puzzo et al.   Science Translational Medicine

Autophagy dysregulation in Danon disease

(2017) Anna Chiara Nascimbeni et al.   Cell Death & Disease

Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease

(2017) Véronique Roig-Zamboni et al.   Nature Communications

mTOR as a Key Regulator in Maintaining Skeletal Muscle Mass

(2017) Mee-Sup Yoon   Frontiers in Physiology

Overcoming the Host Immune Response to Adeno-Associated Virus Gene Delivery Vectors: The Race Between Clearance, Tolerance, Neutralization, and Escape

(2017) Federico Mingozzi et al.   Annual Review of Virology

Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease

(2017) Manuela Corti et al.   Human Gene Therapy Clinical Development

Low-Dose Liver-Targeted Gene Therapy for Pompe Disease Enhances Therapeutic Efficacy of ERT via Immune Tolerance Induction

(2017) Sang-oh Han et al.   Molecular Therapy-Methods & Clinical Development

A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells

(2017) Takeshi Yoshida et al.   Scientific Reports

Immunomodulatory, liver depot gene therapy for Pompe disease

(2017) J.E. Bond et al.   CELLULAR IMMUNOLOGY

Long-term, high-level hepatic secretion of acid α-glucosidase for Pompe disease achieved in non-human primates using helper-dependent adenovirus

(2016) D P W Rastall et al.   GENE THERAPY

Muscle memory and a new cellular model for muscle atrophy and hypertrophy

(2016) Kristian Gundersen   JOURNAL OF EXPERIMENTAL BIOLOGY

Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis

(2016) Benedikt Schoser et al.   JOURNAL OF NEUROLOGY

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

(2016) Karolina M. Stepien et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal recruitment of TSC2 is a universal response to cellular stress

(2016) Constantinos Demetriades et al.   Nature Communications

Targeted approaches to induce immune tolerance for Pompe disease therapy

(2016) Phillip A Doerfler et al.   Molecular Therapy-Methods & Clinical Development

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II

(2015) Anna Chiara Nascimbeni et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

DNA-dependent targeting of cell nuclei by a lupus autoantibody

(2015) Richard H. Weisbart et al.   Scientific Reports

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

(2015) Gerben J. Schaaf et al.   Acta Neuropathologica Communications

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

Spatial Control of the TSC Complex Integrates Insulin and Nutrient Regulation of mTORC1 at the Lysosome

(2014) Suchithra Menon et al.   CELL

Induction of autophagy supports the bioenergetic demands of quiescent muscle stem cell activation

(2014) Ann H Tang et al.   EMBO JOURNAL

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease

(2014) Dwight D. Koeberl et al.   FASEB JOURNAL

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study

(2014) L. J. Anderson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

(2014) Giancarlo Parenti et al.   MOLECULAR THERAPY

Regulation of mTORC1 by amino acids

(2014) Liron Bar-Peled et al.   TRENDS IN CELL BIOLOGY

Pompe disease: from pathophysiology to therapy and back again

(2014) Jeong-A Lim et al.   Frontiers in Aging Neuroscience

Phase I/II Trial of Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV1-CMV-GAA) Gene Vector in Patients with Pompe Disease

(2014) Barry J. Byrne et al.   Human Gene Therapy Clinical Development

How to describe the clinical spectrum in Pompe disease?

(2013) Deniz Güngör et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

Phase I/II Trial of Adeno-Associated Virus–Mediated Alpha-Glucosidase Gene Therapy to the Diaphragm for Chronic Respiratory Failure in Pompe Disease: Initial Safety and Ventilatory Outcomes

(2013) Barbara K. Smith et al.   HUMAN GENE THERAPY

Misregulation of autophagy and protein degradation systems in myopathies and muscular dystrophies

(2013) M. Sandri et al.   JOURNAL OF CELL SCIENCE

Enzyme replacement therapy and fatigue in adults with Pompe disease

(2013) Deniz Güngör et al.   MOLECULAR GENETICS AND METABOLISM

Pain in adult patients with Pompe disease

(2013) D. Güngör et al.   MOLECULAR GENETICS AND METABOLISM

Sustained Correction of Motoneuron Histopathology Following Intramuscular Delivery of AAV in Pompe Mice

(2013) Mai K ElMallah et al.   MOLECULAR THERAPY

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

(2013) A. Dardis et al.   NUCLEIC ACIDS RESEARCH

Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

(2013) Yin-Hsiu Chien et al.   Pediatrics and Neonatology

Satellite Cells and the Muscle Stem Cell Niche

(2013) Hang Yin et al.   PHYSIOLOGICAL REVIEWS

Differential response of skeletal muscles to mTORC1 signaling during atrophy and hypertrophy

(2013) C Bentzinger et al.   Skeletal Muscle

The emerging phenotype of long-term survivors with infantile Pompe disease

(2012) Sean N. Prater et al.   GENETICS IN MEDICINE

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy

(2012) J. K. Ching et al.   HUMAN MOLECULAR GENETICS

A Cell-Penetrating Bispecific Antibody for Therapeutic Regulation of Intracellular Targets

(2012) R. H. Weisbart et al.   MOLECULAR CANCER THERAPEUTICS

The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease

(2012) Richie Khanna et al.   PLoS One

AMPK and mTOR in Cellular Energy Homeostasis and Drug Targets

(2011) Ken Inoki et al.   Annual Review of Pharmacology and Toxicology

The autophagy initiating kinase ULK1 is regulated via opposing phosphorylation by AMPK and mTOR

(2011) Dan Egan et al.   Autophagy

An absolute requirement for Pax7-positive satellite cells in acute injury-induced skeletal muscle regeneration

(2011) C. Lepper et al.   DEVELOPMENT

Autophagy in skeletal muscle: implications for Pompe disease

(2011) L. Shea et al.   INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

(2011) Dwight D. Koeberl et al.   MOLECULAR GENETICS AND METABOLISM

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease

(2011) Dwight D. Koeberl et al.   MOLECULAR GENETICS AND METABOLISM

AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1

(2011) Joungmok Kim et al.   NATURE CELL BIOLOGY

Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges

(2011) Federico Mingozzi et al.   NATURE REVIEWS GENETICS

mTORC1 Senses Lysosomal Amino Acids Through an Inside-Out Mechanism That Requires the Vacuolar H+-ATPase

(2011) R. Zoncu et al.   SCIENCE

Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles

(2010) Eva Masiero et al.   Autophagy

Ragulator-Rag Complex Targets mTORC1 to the Lysosomal Surface and Is Necessary for Its Activation by Amino Acids

(2010) Yasemin Sancak et al.   CELL

Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease

(2010) Sengen Xu et al.   JOURNAL OF APPLIED PHYSIOLOGY

Gel-mediated Delivery of AAV1 Vectors Corrects Ventilatory Function in Pompe Mice With Established Disease

(2010) Cathryn S Mah et al.   MOLECULAR THERAPY

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

(2010) Paolo Grumati et al.   NATURE MEDICINE

Autophagy Is Required to Maintain Muscle Mass

(2009) Eva Masiero et al.   Cell Metabolism

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

(2009) Marc Nicolino et al.   GENETICS IN MEDICINE

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

(2009) Caterina Porto et al.   MOLECULAR THERAPY

Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

(2009) Yunxiang Zhu et al.   MOLECULAR THERAPY

Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease

(2009) Baodong Sun et al.   MOLECULAR THERAPY

Neural deficits contribute to respiratory insufficiency in Pompe disease

(2009) L. R. DeRuisseau et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Biochemical and pharmacological characterization of different recombinant acid α-glucosidase preparations evaluated for the treatment of Pompe disease

(2008) A.J. McVie-Wylie et al.   MOLECULAR GENETICS AND METABOLISM

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS