Cell type-selective targeted delivery of a recombinant lysosomal enzyme for enzyme therapies

Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in mice

(2020) Julie C. Ullman et al.   Science Translational Medicine

Challenges in treating Pompe disease: an industry perspective

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

Antigen-selective modulation of AAV immunogenicity with tolerogenic rapamycin nanoparticles enables successful vector re-administration

(2018) Amine Meliani et al.   Nature Communications

A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice

(2017) Ni-Chung Lee et al.   MOLECULAR NEUROBIOLOGY

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

(2017) Francesco Puzzo et al.   Science Translational Medicine

Activin A more prominently regulates muscle mass in primates than does GDF8

(2017) Esther Latres et al.   Nature Communications

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

Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease

(2017) J. Hordeaux et al.   Acta Neuropathologica Communications

Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth

(2015) Yin-Hsiu Chien et al.   JOURNAL OF PEDIATRICS

Therapies for the bone in mucopolysaccharidoses

(2015) Shunji Tomatsu et al.   MOLECULAR GENETICS AND METABOLISM

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Liver-Specific Transcriptional Modules Identified by Genome-Wide In Silico Analysis Enable Efficient Gene Therapy in Mice and Non-Human Primates

(2014) Marinee K Chuah et al.   MOLECULAR THERAPY

Precise and in situ genetic humanization of 6 Mb of mouse immunoglobulin genes

(2014) L. E. Macdonald et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mice with megabase humanization of their immunoglobulin genes generate antibodies as efficiently as normal mice

(2014) A. J. Murphy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effective gene therapy for haemophilic mice with pathogenic factor IX antibodies

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

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

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

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

(2012) Sean N. Prater 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

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

Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction

(2011) Maria Francisca Coutinho et al.   MOLECULAR GENETICS AND METABOLISM

Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression

(2009) Baodong Sun et al.   JOURNAL OF GENE MEDICINE

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

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

Trafficking and function of the tetraspanin CD63

(2008) Maaike S. Pols et al.   EXPERIMENTAL CELL RESEARCH

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

Deficiency of the Tetraspanin CD63 Associated with Kidney Pathology but Normal Lysosomal Function

(2008) J. Schroder et al.   MOLECULAR AND CELLULAR BIOLOGY

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

Gene Delivery to the Juvenile Mouse Liver Using AAV2/8 Vectors

(2008) Sharon C Cunningham et al.   MOLECULAR THERAPY