Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

Authors: Emma Rybalka, Hyung Jun Park, Atchayaram Nalini, Dipti Baskar, Kiran Polavarapu, Hacer Durmus, Yang Xia, Linlin Wan, Perry B. Shieh, Behzad Moghadaszadeh, Alan H. Beggs, David L. Mack, Alec S. T. Smith, Wendy Hanna-Rose, Hyder A. Jinnah, Cara A. Timpani, Min Shen, Jaymin Upadhyay, Jeffrey J. Brault, Matthew D. Hall, Naveen Baweja, Priyanka Kakkar

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-18 (2024)

Subject Terms: Adenylosuccinate synthetase 1 myopathy, ADSS1 myopathy, Inborn error of metabolism, Purine disorder, Ultra-rare neuromuscular disease, Skeletal muscle, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/0dfb7f65052b4eb2a4a20ba5da9a4309

Editorial: Modeling neuromuscular diseases to determine molecular drivers of pathology and for drug discovery

Authors: Alec S. T. Smith, Megan L. McCain, Mark Bothwell, David L. Mack

Source: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

Subject Terms: neuromuscular disease (NMD), disease modeling, iPSC (induced pluripotent stem cell), cell line (C2C12), therapy screening, in vitro versus in vivo, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.1017356/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/0592ebddb3a04085ba4c0517340359a7

Human Induced Pluripotent Stem Cell-Derived TDP-43 Mutant Neurons Exhibit Consistent Functional Phenotypes Across Multiple Gene Edited Lines Despite Transcriptomic and Splicing Discrepancies

Authors: Alec S. T. Smith, Changho Chun, Jennifer Hesson, Julie Mathieu, Paul N. Valdmanis, David L. Mack, Byung-Ok Choi, Deok-Ho Kim, Mark Bothwell

Source: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Subject Terms: ALS (amyotrophic lateral sclerosis), iPSC (induced pluripotent stem cell), transcriptomics, electrophysiologic analysis, disease model, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.728707/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/b867e9f17fc7469794bf34151937519a