Angela Roger

Journal Article Am J Physiol Lung Cell Mol Physiol · September 1, 2023 Pompe disease is an autosomal recessive glycogen storage disease caused by mutations in the gene that encodes acid alpha-glucosidase (GAA)-an enzyme responsible for hydrolyzing lysosomal glycogen. GAA deficiency results in systemic lysosomal glycogen accum ... Full text Link to item Cite

Cross-species evolution of a highly potent AAV variant for therapeutic gene transfer and genome editing.

Journal Article Nat Commun · October 10, 2022 Recombinant adeno-associated viral (AAV) vectors are a promising gene delivery platform, but ongoing clinical trials continue to highlight a relatively narrow therapeutic window. Effective clinical translation is confounded, at least in part, by difference ... Full text Link to item Cite

Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7.

Journal Article Dis Model Mech · July 1, 2021 Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) and exh ... Full text Link to item Cite

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.

Journal Article Hum Gene Ther · April 2021 Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effects of ... Full text Link to item Cite

Glycogen accumulation in smooth muscle of a Pompe disease mouse model.

Journal Article J Smooth Muscle Res · 2021 Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)-an enzyme necessary for lysosomal glycogen degradation. A lack of GAA results in an accumulation of glycogen in cardiac and skeleta ... Full text Link to item Cite

Respiratory pathology in the Optn-/- mouse model of Amyotrophic Lateral Sclerosis.

Journal Article Respir Physiol Neurobiol · November 2020 Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disorder that results in death due to respiratory failure. Many genetic defects are associated with ALS; one such defect is a mutation in the gene encoding optineurin (OPTN). Using an o ... Full text Link to item Cite

Intralingual Administration of AAVrh10-miRSOD1 Improves Respiratory But Not Swallowing Function in a Superoxide Dismutase-1 Mouse Model of Amyotrophic Lateral Sclerosis.

Journal Article Hum Gene Ther · August 2020 Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by degeneration of motor neurons and muscles, and death is usually a result of impaired respiratory function due to loss of motor neurons that control upper airway muscles and/or the diap ... Full text Link to item Cite

Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease.

Journal Article Mol Ther Methods Clin Dev · June 12, 2020 Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA). It is expected that gene therapy to replace GAA with adeno-associated virus (AAV) vectors will be less effective early in life because of the rapid loss of vector genomes. AAV ... Full text Open Access Link to item Cite

Motor axonopathies in a mouse model of Duchenne muscular dystrophy.

Journal Article Sci Rep · June 2, 2020 Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by deleterious mutations in the DMD gene which encodes the dystrophin protein. Skeletal muscle weakness and eventual muscle degradation due to loss of dystrophin are well-documented ... Full text Open Access Link to item Cite

The Respiratory Phenotype of Pompe Disease Mouse Models.

Journal Article Int J Mol Sci · March 24, 2020 Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which causes respi ... Full text Link to item Cite

The Respiratory Phenotype of Pompe Disease Rodent Models

Preprint · 2020 Full text Cite

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

Journal Article Ann Transl Med · July 2019 Pompe disease is a neuromuscular disease caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase leading to lysosomal and cytoplasmic glycogen accumulation in neurons and striated muscle. In the decade since availability of first-generation e ... Full text Link to item Cite

Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

Journal Article Int J Mol Sci · February 11, 2019 The authors of the recently published, "Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases", provide an important review of the various mechanisms of lysosomal storage diseases (LSD) and how they culminate in similar clinical path ... Full text Link to item Cite

Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease.

Journal Article Hum Gene Ther · January 2019 Pompe disease is an autosomal recessive glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in systemic lysosomal glycogen accumulation and cellular disruption in muscle and the centra ... Full text Link to item Cite

Reduction of Autophagic Accumulation in Pompe Disease Mouse Model Following Gene Therapy.

Journal Article Curr Gene Ther · 2019 BACKGROUND: Pompe disease is a fatal neuromuscular disorder caused by a deficiency in acid α-glucosidase, an enzyme responsible for glycogen degradation in the lysosome. Currently, the only approved treatment for Pompe disease is enzyme replacement therapy ... Full text Link to item Cite

The Respiratory Phenotype of Rodent Models of Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia.

Journal Article J Neuroinflamm Neurodegener Dis · 2019 Amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia (SCA) are neurodegenerative disorders that result in progressive motor dysfunction and ultimately lead to respiratory failure. Rodent models of neurodegenerative disorders provide a means to st ... Link to item Cite

The impact of Pompe disease on smooth muscle: a review.

Journal Article J Smooth Muscle Res · 2018 Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in the gene encoding acid α-glucosidase (GAA) (EC 3.2.1.20), the enzyme responsible for hydrolyzing lysosomal glycogen. The primary cellular pathology is lysosomal glycogen ... Full text Link to item Cite

Adeno-associated virus-mediated gene therapy for metabolic myopathy.

Journal Article Human gene therapy · November 2013 Metabolic myopathies are a diverse group of rare diseases in which impaired breakdown of stored energy leads to profound muscle dysfunction ranging from exercise intolerance to severe muscle wasting. Metabolic myopathies are largely caused by functional de ... Full text Cite

Production, purification and preliminary X-ray crystallographic studies of adeno-associated virus serotype 9.

Journal Article Acta Crystallogr Sect F Struct Biol Cryst Commun · July 1, 2009 Adeno-associated virus (AAV) serotype 9, which is under development for gene-delivery applications, shows significantly enhanced capsid-associated transduction efficiency in muscle compared with other AAV serotypes. With the aim of characterizing the struc ... Full text Link to item Cite