Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy

Authors: William B. Hannah, Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

Source: JIMD Reports, Vol 64, Iss 5, Pp 393-400 (2023)

Subject Terms: adeno‐associated virus, gene therapy, Pompe disease, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/d8832d4d282b4cac8148d3645a6ca744

Genome editing using Staphylococcus aureus Cas9 in a canine model of glycogen storage disease Ia

Authors: Benjamin Arnson, Hye Ri Kang, Elizabeth D. Brooks, Dorothy Gheorghiu, Ekaterina Ilich, David Courtney, Jeffrey I. Everitt, Bryan R. Cullen, Dwight D. Koeberl

Source: Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 108-119 (2023)

Subject Terms: genome editing, CRISPR-Cas9, adeno-associated virus vectors, inherited disorder of metabolism, glycogen storage disease, glucose-6-phosphatase, Genetics, QH426-470, Cytology, QH573-671

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050123000372; https://doaj.org/toc/2329-0501

Access URL: https://doaj.org/article/8282e120c0924cec897cf976a2665255

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease

Authors: Jason Wang, Chris J. Zhou, Alastair Khodabukus, Sabrina Tran, Sang-Oh Han, Aaron L. Carlson, Lauran Madden, Priya S. Kishnani, Dwight D. Koeberl, Nenad Bursac

Source: Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2399-3642

Access URL: https://doaj.org/article/e7bed5b1c04b4acdbdebddf5309410f2

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

Authors: Sang-oh Han, Songtao Li, Angela McCall, Benjamin Arnson, Jeffrey I. Everitt, Haoyue Zhang, Sarah P. Young, Mai K. ElMallah, Dwight D. Koeberl

Source: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 133-142 (2020)

Subject Terms: Pompe disease, glycogen storage disease, adeno-associated virus vector, infantile, Genetics, QH426-470, Cytology, QH573-671

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050119301457; https://doaj.org/toc/2329-0501

Access URL: https://doaj.org/article/c420a65b4c434febb94fb8a86044fc55

Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency

Authors: Andrew P. VanDemark, Stacy L. Hrizo, Samantha L. Eicher, Jules Kowalski, Tracey D. Myers, Megan R. Pfeifer, Kacie N. Riley, Dwight D. Koeberl, Michael J. Palladino

Source: Disease Models & Mechanisms, Vol 15, Iss 5 (2022)

Subject Terms: biochemistry, glycolytic dysfunction, structural biology, triosephosphate isomerase, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/15/5/dmm049261; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/6e587810fc2644ddac6db38219dae764

Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease

Authors: Hye-Ri Kang, Monika Gjorgjieva, Stephanie N. Smith, Elizabeth D. Brooks, Zelin Chen, Shawn M. Burgess, Randy J. Chandler, Lauren R. Waskowicz, Kylie M. Grady, Songtao Li, Gilles Mithieux, Charles P. Venditti, Fabienne Rajas, Dwight D. Koeberl

Source: Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 383-391 (2019)

Subject Terms: Genetics, QH426-470, Cytology, QH573-671

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S232905011930124X; https://doaj.org/toc/2329-0501

Access URL: https://doaj.org/article/b62c7d87ff05429b9ac33973aa0abe54

Bezafibrate Enhances AAV Vector-Mediated Genome Editing in Glycogen Storage Disease Type Ia

Authors: Hye-Ri Kang, Lauren Waskowicz, Andrea M. Seifts, Dustin J. Landau, Sarah P. Young, Dwight D. Koeberl

Source: Molecular Therapy: Methods & Clinical Development, Vol 13, Iss , Pp 265-273 (2019)

Subject Terms: Genetics, QH426-470, Cytology, QH573-671

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050119300191; https://doaj.org/toc/2329-0501

Access URL: https://doaj.org/article/de679cdfd2184c5d826d0048eafe3c3b

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease

Authors: Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Dwight D. Koeberl, Wen-Hui Tsai, Pao-Chin Chiu, Chaw-Liang Chang

Source: Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 31-35 (2017)

Subject Terms: Pompe disease, Enzyme replacement therapy, Albuterol, Creatine kinase, 6-Min walk test, 4-Stair climb test, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917300423; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/1b01407f90ab444ba4fcb235b6b1f437

Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis

Authors: Mari Mori, Jennifer Goldstein, Sarah P. Young, Edward H. Bossen, John Shoffner, Dwight D. Koeberl

Source: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 39-41 (2015)

Subject Terms: Mitochondrial myopathy, Cytochrome b, Complex III deficiency, Ketotic hypoglycemia, Carnitine deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426915300161; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/9eb665720dd54638bbbe8baae626be02

Characterization of a canine model of glycogen storage disease type IIIa

Authors: Haiqing Yi, Beth L. Thurberg, Sarah Curtis, Stephanie Austin, John Fyfe, Dwight D. Koeberl, Priya S. Kishnani, Baodong Sun

Source: Disease Models & Mechanisms, Vol 5, Iss 6, Pp 804-811 (2012)

Subject Terms: Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/5/6/804; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/19f7fa5e7dc54dfa8da97f149c9a4f34

Corrigendum to âAssessment of toxicity and biodistribution of recombinant AAV8 vectorâmediated immunomodulatory gene therapy in mice with Pompe diseaseâ

Authors: Gensheng Wang, Sarah P Young, Deeksha Bali, Julie Hutt, Songtao Li, Janet Benson, Dwight D Koeberl

Source: Molecular Therapy: Methods & Clinical Development, Vol 2, Iss , Pp - (2015)

Subject Terms: Genetics, QH426-470, Cytology, QH573-671

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050116300146; https://doaj.org/toc/2329-0501

Access URL: https://doaj.org/article/ba0e3cf2d64d4e55bda3d7a4cf243202

Assessment of toxicity and biodistribution of recombinant AAV8 vector–mediated immunomodulatory gene therapy in mice with Pompe disease

Authors: Gensheng Wang, Sarah P Young, Deeksha Bali, Julie Hutt, Songtao Li, Janet Benson, Dwight D Koeberl

Source: Molecular Therapy: Methods & Clinical Development, Vol 1, Iss C (2014)

Subject Terms: Genetics, QH426-470, Cytology, QH573-671

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050116300833; https://doaj.org/toc/2329-0501

Access URL: https://doaj.org/article/9b114e18ed94455e94387b39e072f9a7