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

Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity

(2017) Barbara K. Smith et al.   EXPERIMENTAL NEUROLOGY

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

(2017) David L. Mack et al.   MOLECULAR THERAPY

Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease

(2016) Phillip A. Doerfler et al.   HUMAN GENE THERAPY

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

77. Antigen-Specific Modulation of Capsid Immunogenicity with Tolerogenic Nanoparticles Results in Successful AAV Vector Readministration

(2016) Amine Meliani et al.   MOLECULAR THERAPY

Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge

(2016) Berendine J. Ebbink et al.   NEUROLOGY

Neuropathology in respiratory-related motoneurons in young Pompe (Gaa−/−) mice

(2016) Sara M.F. Turner et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

(2016) Elisa Masat et al.   Scientific Reports

A translationally optimized AAV-UGT1A1 vector drives safe and long-lasting correction of Crigler-Najjar syndrome

(2016) Giuseppe Ronzitti et al.   Molecular Therapy-Methods & Clinical Development

AAV liver expression of FIX-Padua prevents and eradicates FIX inhibitor without increasing thrombogenicity in hemophilia B dogs and mice

(2015) J. M. Crudele et al.   BLOOD

Efficient and Targeted Transduction of Nonhuman Primate Liver With Systemically Delivered Optimized AAV3B Vectors

(2015) Shaoyong Li et al.   MOLECULAR THERAPY

Determination of Anti-Adeno-Associated Virus Vector Neutralizing Antibody Titer with anIn VitroReporter System

(2015) Amine Meliani et al.   Human Gene Therapy Methods

Gene therapy for Duchenne muscular dystrophy

(2015) Julian Ramos et al.   Expert Opinion on Orphan Drugs

Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning

(2015) Manuela Corti et al.   Human Gene Therapy Clinical Development

Comparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe mice

(2015) Darin J Falk et al.   Molecular Therapy-Methods & Clinical Development

Life-Long Correction of Hyperbilirubinemia with a Neonatal Liver-Specific AAV-Mediated Gene Transfer in a Lethal Mouse Model of Crigler–Najjar Syndrome

(2014) Giulia Bortolussi et al.   HUMAN GENE THERAPY

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

(2014) Giancarlo Parenti et al.   MOLECULAR THERAPY

Long-Term Safety and Efficacy of Factor IX Gene Therapy in Hemophilia B

(2014) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease

(2014) Tim A Kanters et al.   Orphanet Journal of Rare Diseases

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

Immune responses to AAV vectors: overcoming barriers to successful gene therapy

(2013) F. Mingozzi et al.   BLOOD

Effective gene therapy for haemophilic mice with pathogenic factor IX antibodies

(2013) David M. Markusic et al.   EMBO Molecular Medicine

Selection and evaluation of clinically relevant AAV variants in a xenograft liver model

(2013) Leszek Lisowski et al.   NATURE

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)

(2012) A C Nascimbeni et al.   CELL DEATH AND DIFFERENTIATION

Immunodominant Liver-Specific Expression Suppresses Transgene-Directed Immune Responses in Murine Pompe Disease

(2012) Ping Zhang et al.   HUMAN GENE THERAPY

Systemic Administration of AAV8-α-galactosidase A Induces Humoral Tolerance in Nonhuman Primates Despite Low Hepatic Expression

(2011) Jennifer B Nietupski et al.   MOLECULAR THERAPY

Liver Production of Sulfamidase Reverses Peripheral and Ameliorates CNS Pathology in Mucopolysaccharidosis IIIA Mice

(2011) Albert Ruzo et al.   MOLECULAR THERAPY

SignalP 4.0: discriminating signal peptides from transmembrane regions

(2011) Thomas Nordahl Petersen et al.   NATURE METHODS

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

(2011) Federico Mingozzi et al.   NATURE REVIEWS GENETICS

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

(2011) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2010) N. P. van Til et al.   BLOOD

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

(2010) Juna M. de Vries et al.   MOLECULAR GENETICS AND METABOLISM

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

High AAV vector purity results in serotype- and tissue-independent enhancement of transduction efficiency

(2009) E Ayuso et al.   GENE THERAPY

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

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

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

Ability of Adeno-Associated Virus Serotype 8-Mediated Hepatic Expression of Acid α-Glucosidase to Correct the Biochemical and Motor Function Deficits of Presymptomatic and Symptomatic Pompe Mice

(2008) Robin J. Ziegler et al.   HUMAN GENE THERAPY

Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

(2008) N. Raben et al.   HUMAN MOLECULAR GENETICS

Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes

(2008) P. A. Gonzales et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Pompe's disease

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

Correction of Multiple Striated Muscles in Murine Pompe Disease Through Adeno-associated Virus–mediated Gene Therapy

(2008) Baodong Sun et al.   MOLECULAR THERAPY

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE