Search Results - "Crowe, Kelly E."
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Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans
Published in Molecular and cellular biology (01-05-2017)“…Sarcopenia, the loss of muscle mass and strength during normal aging, involves coordinate changes in skeletal myofibers and the cells that contact them,…”
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Comparison of Lectins as Staining Biomarkers for GNE Myopathy Gene Therapy
Published in The FASEB journal (01-05-2022)“…GNE myopathy (GNEM) is an autosomal recessive disease in which mutations in the GNEgene lead to skeletal muscle weakness and progressive wasting. GNE encodes…”
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Lectin Staining for the Detection of In Vitro Sialic Acid Alterations
Published in The FASEB journal (01-05-2022)“…GNE Myopathy (GNEM) is a rare disease caused by a mutation in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) gene, which catalyzes…”
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Reduced Sarcolemmal Membrane Repair Exacerbates Striated Muscle Pathology in a Mouse Model of Duchenne Muscular Dystrophy
Published in Cells (Basel, Switzerland) (22-04-2022)“…Duchenne muscular dystrophy (DMD) is a common X-linked degenerative muscle disorder that involves mutations in the DMD gene that frequently reduce the…”
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An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque
Published in Molecular therapy. Methods & clinical development (21-09-2018)“…Recombinant adeno-associated virus (rAAV)rh74.MCK.GALGT2 is a muscle-specific gene therapy that is being developed to treat forms of muscular dystrophy. Here…”
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Lectin Biomarker Development in a Mouse Model of GNE Myopathy
Published in The FASEB journal (01-05-2022)“…GNE Myopathy (GNEM) is a rare autosomal recessive disease that causes progressive muscle wasting. GNEM occurs due to mutations in the GNE gene that encodes a…”
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C. elegansAttraction Learning in casy‐1Mutants
Published in The FASEB journal (01-05-2022)“…C. eleganshave a simple nervous system with approximately 300 neurons and exhibit well‐documented learning‐specific behaviors. Several genetic mutations, such…”
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Assessment of Sialic Acid Levels in an In Vitro Model of Muscle Atrophy
Published in The FASEB journal (01-05-2022)“…Muscular atrophy is a loss of muscle tissue that can occur due to inactivity or underlying disease processes. Studies have shown that muscle pathology may be…”
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Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy
Published in Human gene therapy (01-09-2017)“…Recombinant adeno-associated virus (rAAV) is a commonly used gene therapy vector for the delivery of therapeutic transgenes in a variety of human diseases, but…”
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Serum Antibodies to N-Glycolylneuraminic Acid Are Elevated in Duchenne Muscular Dystrophy and Correlate with Increased Disease Pathology in Cmah−/−mdx Mice
Published in The American journal of pathology (01-08-2021)“…Humans cannot synthesize the common mammalian sialic acid N -glycolylneuraminic acid (Neu5Gc) because of an inactivating deletion in the…”
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Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches
Published in Journal of neuromuscular diseases (2022)“…GNE myopathy (GNEM) is a rare, adult-onset, inclusion body myopathy that results from mutations in the GNE gene. GNE encodes UDP-GlcNAc epimerase/ManNAc-6…”
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N-terminal α Dystroglycan (αDG-N): A Potential Serum Biomarker for Duchenne Muscular Dystrophy
Published in Journal of neuromuscular diseases (27-05-2016)“…Duchenne Muscular Dystrophy (DMD) is a severe, progressive, neuromuscular disorder of childhood. While a number of serum factors have been identified as…”
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Lectin Staining Biomarkers for Gene Therapy in GNE Myopathy
Published in The FASEB journal (01-04-2020)“…Abstract only GNE myopathy (GNEM) is an autosomal recessive disease characterized by muscle wasting and weakness. This disease is caused by mutations in the…”
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C. elegans Attraction Learning in casy‐1 Mutants
Published in The FASEB journal (01-05-2022)“…Abstract only C. elegans have a simple nervous system with approximately 300 neurons and exhibit well‐documented learning‐specific behaviors. Several genetic…”
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Assessing Sialic Acid Uptake in an In Vitro Model of GNE Myopathy
Published in The FASEB journal (01-04-2020)“…Abstract only Mutations in the GNE gene leads to GNE myopathy (GNEM), a rare autosomal disease that causes skeletal muscle weakness. The GNE gene encodes an…”
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Assessing the Degree of Differentiation in Myotubes derived from Patients with GNE Myopathy
Published in The FASEB journal (01-04-2020)“…Abstract only GNE Myopathy (GNEM) is an extremely rare autosomal recessive disease that causes muscle wasting due to mutations in the GNE gene. The GNE protein…”
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Sialic Acid Alterations in Mouse Models of Atrophy and Hypertrophy
Published in The FASEB journal (01-04-2020)“…Abstract only Sialic acids (SAs) are negatively charged nine‐carbon sugars that are typically found at the ends of glycan chains on glycolipids and…”
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An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK. GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque
Published in Molecular therapy. Methods & clinical development (21-09-2018)“…Recombinant adeno-associated virus (rAAV)rh74.MCK. is a muscle-specific gene therapy that is being developed to treat forms of muscular dystrophy. Here we…”
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