Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Kathryn H. Morelli"'
Autor:
Kathryn H. Morelli, Kevin L. Seburn, David G. Schroeder, Emily L. Spaulding, Loiuse A. Dionne, Gregory A. Cox, Robert W. Burgess
Publikováno v:
Cell Reports, Vol 18, Iss 13, Pp 3178-3191 (2017)
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction. The clinical presentation, in
Externí odkaz:
https://doaj.org/article/75c1f25d43654c798eae312e468f7433
Autor:
Preeti Bais, Kirk Beebe, Kathryn H. Morelli, Meagan E. Currie, Sara N. Norberg, Alexei V. Evsikov, Kathy E. Miers, Kevin L. Seburn, Velina Guergueltcheva, Ivo Kremensky, Albena Jordanova, Carol J. Bult, Robert W. Burgess
Publikováno v:
Biology Open, Vol 5, Iss 7, Pp 908-920 (2016)
Charcot–Marie–Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration in the peripheral nervous system. Charcot–Marie–Tooth type 2D neuropathy (CMT2D) is caused by dominant
Externí odkaz:
https://doaj.org/article/f50e94aa3a7b4091bc4b66563eca9a9c
Publikováno v:
RNA. 29:489-497
Disruptions in RNA processing play critical roles in the pathogenesis of neurological diseases. In this Perspective, we discuss recent progress in the development of RNA-targeting therapeutic modalities. We focus on progress, limitations, and opportu
Autor:
Kathryn H. Morelli, Qian Wu, Maya L. Gosztyla, Hongshuai Liu, Minmin Yao, Chuangchuang Zhang, Jiaxu Chen, Ryan J. Marina, Kari Lee, Krysten L. Jones, Megan Y. Huang, Allison Li, Charlene Smith-Geater, Leslie M. Thompson, Wenzhen Duan, Gene W. Yeo
Publikováno v:
Nature Neuroscience. 26:27-38
Huntington’s disease (HD) is a fatal, dominantly inherited neurodegenerative disorder caused by CAG trinucleotide expansion in exon 1 of the huntingtin (HTT) gene. Since the reduction of pathogenic mutant HTT messenger RNA is therapeutic, we develo
Autor:
Kathryn H. Morelli, Wenhao Jin, Shashank Shathe, Assael A. Madrigal, Krysten L. Jones, Joshua L. Schwartz, Tristan Bridges, Jasmine R. Mueller, Archana Shankar, Isaac A. Chaim, John W. Day, Gene W. Yeo
Publikováno v:
Sci Transl Med
Myotonic dystrophy type 1 (DM1) is a multisystem, autosomal-dominant inherited disorder caused by CTG microsatellite repeat expansions (MREs) in the 3′ untranslated region of the dystrophia myotonica-protein kinase ( DMPK ) gene. Despite its promin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb6fa1febd240558019bfb8e656619b8
https://europepmc.org/articles/PMC9645119/
https://europepmc.org/articles/PMC9645119/
Autor:
Kathryn H. Morelli, Qian Wu, Maya L. Gosztyla, Hongshuai Liu, Chuangchuang Zhang, Jiaxu Chen, Ryan Marina, Kari Lee, Krysten L. Jones, Wenzhen Duan, Gene W. Yeo
Huntington’s disease (HD) is a fatal, dominantly inherited neurodegenerative disorder caused by a CAG trinucleotide expansion in exon 1 of the huntingtin (HTT) gene. Although the pathogenesis of HD remains complex, the CAG-expanded (CAGEX) HTT mRNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8d5a6e58f11615ff4a63ddfd3e043cc
https://doi.org/10.1101/2022.01.23.477417
https://doi.org/10.1101/2022.01.23.477417
Autor:
Kathryn H. Morelli, Laurie B. Griffin, Allison M. Fowler, Timothy J. Hines, James R. Lupski, Lindsay M. Wallace, Samuel G. Kocen, Scott Q. Harper, Jacob O. Kitzman, Ryuichi Takase, Stephanie N. Oprescu, Alexey I. Nesvizhskii, Rebecca Meyer-Schuman, Nettie K. Pyne, Pedro Mancias, Robert W. Burgess, Dattatreya Mellacheruvu, Ya-Ming Hou, Emily Spaulding, Anthony Antonellis, Na Wei, Xiang-Lei Yang, Ian J. Butler
Publikováno v:
Journal of Clinical Investigation. 129:5568-5583
Gene therapy approaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated genes. However, the feasibility of these approaches for dominantly inherited diseases — where treatment may require reduction in
Autor:
Kathryn H, Morelli, Qian, Wu, Maya L, Gosztyla, Hongshuai, Liu, Minmin, Yao, Chuangchuang, Zhang, Jiaxu, Chen, Ryan J, Marina, Kari, Lee, Krysten L, Jones, Megan Y, Huang, Allison, Li, Charlene, Smith-Geater, Leslie M, Thompson, Wenzhen, Duan, Gene W, Yeo
Publikováno v:
Nature neuroscience.
Huntington's disease (HD) is a fatal, dominantly inherited neurodegenerative disorder caused by CAG trinucleotide expansion in exon 1 of the huntingtin (HTT) gene. Since the reduction of pathogenic mutant HTT messenger RNA is therapeutic, we develope
Autor:
Loiuse A. Dionne, Robert W. Burgess, Kathryn H. Morelli, David G. Schroeder, Emily Spaulding, Gregory A. Cox, Kevin L. Seburn
Publikováno v:
Cell Reports, Vol 18, Iss 13, Pp 3178-3191 (2017)
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction. The clinical presentation, in
Autor:
Darin J. Falk, Thomas C. Foster, Lucia Notterpek, Hannah Bazick, Adrian G. Todd, Robert W. Burgess, Vinita G. Chittoor-Vinod, Kathryn H. Morelli
Publikováno v:
ACS Chemical Neuroscience
Hereditary demyelinating neuropathies linked to peripheral myelin protein 22 (PMP22) involve the disruption of normal protein trafficking and are therefore relevant targets for chaperone therapy. Using a small molecule HSP90 inhibitor, EC137, in cell