Search Results - "Morelli, Kathryn H"

Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d by Spaulding, Emily L, Sleigh, James N, Morelli, Kathryn H, Pinter, Martin J, Burgess, Robert W, Seburn, Kevin L

“…Patients with Charcot-Marie-Tooth Type 2D (CMT2D), caused by dominant mutations in Glycl tRNA synthetase (GARS), present with progressive weakness,…”
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Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes by Morelli, Kathryn H., Seburn, Kevin L., Schroeder, David G., Spaulding, Emily L., Dionne, Loiuse A., Cox, Gregory A., Burgess, Robert W.

“…Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause…”
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Programmable macromolecule-based RNA-targeting therapies to treat human neurological disorders by Morelli, Kathryn H, Smargon, Aaron A, Yeo, Gene W

“…Disruptions in RNA processing play critical roles in the pathogenesis of neurological diseases. In this Perspective, we discuss recent progress in the…”
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An RNA-targeting CRISPR–Cas13d system alleviates disease-related phenotypes in Huntington’s disease models by Morelli, Kathryn H., Wu, Qian, Gosztyla, Maya L., Liu, Hongshuai, Yao, Minmin, Zhang, Chuangchuang, Chen, Jiaxu, Marina, Ryan J., Lee, Kari, Jones, Krysten L., Huang, Megan Y., Li, Allison, Smith-Geater, Charlene, Thompson, Leslie M., Duan, Wenzhen, Yeo, Gene W.

“…Huntington’s disease (HD) is a fatal, dominantly inherited neurodegenerative disorder caused by CAG trinucleotide expansion in exon 1 of the huntingtin ( HTT )…”
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Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next by Morelli, Kathryn H., Hatton, Courtney L., Harper, Scott Q., Burgess, Robert W.

“…•We describe gene replacement, knockdown, and splicing gene therapy approaches.•We highlight successful gene therapy approaches for neuromuscular diseases.•We…”
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Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions by Bais, Preeti, Beebe, Kirk, Morelli, Kathryn H, Currie, Meagan E, Norberg, Sara N, Evsikov, Alexei V, Miers, Kathy E, Seburn, Kevin L, Guergueltcheva, Velina, Kremensky, Ivo, Jordanova, Albena, Bult, Carol J, Burgess, Robert W

“…Charcot-Marie-Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration in the peripheral…”
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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models by Morelli, Kathryn H, Griffin, Laurie B, Pyne, Nettie K, Wallace, Lindsay M, Fowler, Allison M, Oprescu, Stephanie N, Takase, Ryuichi, Wei, Na, Meyer-Schuman, Rebecca, Mellacheruvu, Dattatreya, Kitzman, Jacob O, Kocen, Samuel G, Hines, Timothy J, Spaulding, Emily L, Lupski, James R, Nesvizhskii, Alexey, Mancias, Pedro, Butler, Ian J, Yang, Xiang-Lei, Hou, Ya-Ming, Antonellis, Anthony, Harper, Scott Q, Burgess, Robert W

“…Gene therapy approaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated genes. However, the feasibility of these…”
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MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy by Morelli, Kathryn H, Jin, Wenhao, Shathe, Shashank, Madrigal, Assael A, Jones, Krysten L, Schwartz, Joshua L, Bridges, Tristan, Mueller, Jasmine R, Shankar, Archana, Chaim, Isaac A, Day, John W, Yeo, Gene W

“…Myotonic dystrophy type 1 (DM1) is a multisystem, autosomal-dominant inherited disorder caused by CTG microsatellite repeat expansions (MREs) in the 3'…”
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Lack of Neuropathy-Related Phenotypes in Hint1 Knockout Mice by Seburn, Kevin L, Morelli, Kathryn H, Jordanova, Albena, Burgess, Robert W

“…ABSTRACTMutations in HINT1, the gene encoding histidine triad nucleotide-binding protein 1 (HINT1), cause a recessively inherited peripheral neuropathy that…”
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HSP90 Inhibitor, NVP-AUY922, Improves Myelination in Vitro and Supports the Maintenance of Myelinated Axons in Neuropathic Mice by Chittoor-Vinod, Vinita G, Bazick, Hannah, Todd, Adrian G, Falk, Darin, Morelli, Kathryn H, Burgess, Robert W, Foster, Thomas C, Notterpek, Lucia

“…Hereditary demyelinating neuropathies linked to peripheral myelin protein 22 (PMP22) involve the disruption of normal protein trafficking and are therefore…”
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