Pharmacotherapy of Pompe disease

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.

(2014) K Wyatt et al.   HEALTH TECHNOLOGY ASSESSMENT

Infantile Pompe disease on ERT-Update on clinical presentation, musculoskeletal management, and exercise considerations

(2012) Laura E. Case et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

(2012) Anna Chiara Nascimbeni et al.   Autophagy

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease

(2012) Songtao Li et al.   FASEB JOURNAL

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

(2012) Suhrad G. Banugaria et al.   GENETICS IN MEDICINE

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

(2012) Yoav H. Messinger et al.   GENETICS IN MEDICINE

Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

(2012) John A. Maga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

(2012) Caroline Regnery et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI

(2012) Rosa Bartolomeo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Discovery of a Novel Noniminosugar Acid α Glucosidase Chaperone Series

(2012) Jingbo Xiao et al.   JOURNAL OF MEDICINAL CHEMISTRY

Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease

(2012) Mats I. Nilsson et al.   MOLECULAR GENETICS AND METABOLISM

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

(2012) Elfrida R Benjamin et al.   MOLECULAR THERAPY

Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine

(2012) Caterina Porto et al.   MOLECULAR THERAPY

A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes

(2012) Petra Tiels et al.   NATURE BIOTECHNOLOGY

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

Teaching tolerance

(2012) Leslie P. Cousens et al.   Human Vaccines & Immunotherapeutics

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation

(2011) Yohta Shimada et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

(2011) Diego L. Medina et al.   DEVELOPMENTAL CELL

Pompe disease gene therapy

(2011) B. J. Byrne et al.   HUMAN MOLECULAR GENETICS

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease

(2011) Caterina Porto et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

(2011) C. Angelini et al.   JOURNAL OF NEUROLOGY

Pompe disease: Design, methodology, and early findings from the Pompe Registry

(2011) Barry J. Byrne 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

Consensus treatment recommendations for late-onset Pompe disease

(2011) Edward J. Cupler et al.   MUSCLE & NERVE

Enhanced delivery of α-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders

(2011) Janet Hsu et al.   Nanomedicine-Nanotechnology Biology and Medicine

Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis

(2010) Isabelle Sermet-Gaudelus et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease

(2010) Nina Raben et al.   Autophagy

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

(2010) N. P. van Til et al.   BLOOD

Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators

(2010) Juan J. Marugan et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

(2010) Richard S. Finkel   JOURNAL OF CHILD NEUROLOGY

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience

(2010) Anupam Chakrapani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease

(2010) Karen M. Ashe et al.   MOLECULAR GENETICS AND METABOLISM

Evaluation of Systemic Follistatin as an Adjuvant to Stimulate Muscle Repair and Improve Motor Function in Pompe Mice

(2010) Joseph W Foley et al.   MOLECULAR THERAPY

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease

(2010) Marcelina Malinowska et al.   PLoS One

When more is less: Excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease

(2009) Nina Raben et al.   Autophagy

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction

(2009) S O Kyosen et al.   GENE THERAPY

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease

(2009) Gaelle Douillard-Guilloux et al.   HUMAN MOLECULAR GENETICS

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

(2009) John J. Flanagan et al.   HUMAN MUTATION

Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease

(2009) Kanako Sugawara et al.   JOURNAL OF HUMAN GENETICS

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

(2009) S. Strothotte et al.   JOURNAL OF NEUROLOGY

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

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

(2009) Richie Khanna et al.   MOLECULAR THERAPY

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

(2009) Nancy J. Mendelsohn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

A Plant-Derived Recombinant Human Glucocerebrosidase Enzyme—A Preclinical and Phase I Investigation

(2009) David Aviezer et al.   PLoS One

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid α-glucosidase (alglucosidase alfa): Insight into the complex formation mechanism

(2008) Michiru Yoshimizu et al.   CLINICA CHIMICA ACTA

Glycogen storage disease type II (Pompe disease) - influence of enzyme replacement therapy in adults

(2008) T. Merk et al.   EUROPEAN JOURNAL OF NEUROLOGY

Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II

(2008) Gaelle Douillard-Guilloux et al.   HUMAN MOLECULAR GENETICS

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

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

Management and treatment of glycogenosis type II

(2008) B. Bembi et al.   NEUROLOGY

Cardiac Remodeling After Enzyme Replacement Therapy with Acid α-Glucosidase for Infants with Pompe Disease

(2008) Jami C. Levine et al.   PEDIATRIC CARDIOLOGY