Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Lisa Duvick"'
Autor:
Carrie Sheeler, Emmanuel Labrada, Lisa Duvick, Leslie M. Thompson, Ying Zhang, Harry T. Orr, Marija Cvetanovic
Publikováno v:
Neurobiology of Disease, Vol 201, Iss , Pp 106673- (2024)
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited and lethal neurodegenerative disease caused by the abnormal expansion of CAG repeats in the ATAXIN-1 (ATXN1) gene. Pathological studies identified dysfunction and loss of motor neurons (M
Externí odkaz:
https://doaj.org/article/340115b17b0e415f9876648f335e0074
Autor:
Brennon O’Callaghan, Bente Hofstra, Hillary P. Handler, Holly B. Kordasiewicz, Tracy Cole, Lisa Duvick, Jillian Friedrich, Orion Rainwater, Praseuth Yang, Michael Benneyworth, Tessa Nichols-Meade, Wesley Heal, Rachel Ter Haar, Christine Henzler, Harry T. Orr
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 1006-1016 (2020)
Spinocerebellar ataxia type 1 (SCA1) is a lethal, autosomal dominant neurodegenerative disease caused by a polyglutamine expansion in the ATAXIN-1 (ATXN1) protein. Preclinical studies demonstrate the therapeutic efficacy of approaches that target and
Externí odkaz:
https://doaj.org/article/15f7655d7b4b46cf81aff01299a0c211
Autor:
Sunyuan Zhang, Nicholas A. Williamson, Lisa Duvick, Alexander Lee, Harry T. Orr, Austin Korlin-Downs, Praseuth Yang, Yee-Foong Mok, David A. Jans, Marie A. Bogoyevitch
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Patients with spinocerebellar ataxia type 1 express ataxin-1 with an extended polyglutamine (polyQ) tract that forms distinctive nuclear bodies. Here, the authors characterize the cellular pathways affected by polyQ-ataxin-1, showing that it disrupts
Externí odkaz:
https://doaj.org/article/b2b32690cddc4b05a5d62aa6d6b893b2
Autor:
Judit M. Pérez Ortiz, Nissa Mollema, Nicholas Toker, Carolyn J. Adamski, Brennon O'Callaghan, Lisa Duvick, Jillian Friedrich, Michael A. Walters, Jessica Strasser, Jon E. Hawkinson, Huda Y. Zoghbi, Christine Henzler, Harry T. Orr, Sarita Lagalwar
Publikováno v:
Neurobiology of Disease, Vol 116, Iss , Pp 93-105 (2018)
Spinocerebellar ataxia type 1 (SCA1) is a polyglutamine (polyQ) repeat neurodegenerative disease in which a primary site of pathogenesis are cerebellar Purkinje cells. In addition to polyQ expansion of ataxin-1 protein (ATXN1), phosphorylation of ATX
Externí odkaz:
https://doaj.org/article/b9f62c15636b4d38bc9157a6c5c1ed0f
Autor:
Lisa Duvick, W. Michael Southern, Kellie Benzow, Hillary P. Handler, Jason S. Mitchell, Hannah Kuivinen, Udaya Keerthy Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie Scheeler, Orion Rainwater, Serres Shannah, Erin Larson, Tessa Nichols-Meade, Yun You, Brennon O’Callaghan, Huda Y. Zoghbi, James M. Ervasti, Marija Cvetanovic, Michael D. Koob, Harry T. Orr
Publikováno v:
bioRxiv
Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by an expanded polyglutamine tract in the widely expressed ATXN1 protein. To elucidate anatomical regions and cell types that underlie mutant ATXN1-induced disease pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097ef39977231952db5f84fa6647e9d2
https://europepmc.org/articles/PMC9934664/
https://europepmc.org/articles/PMC9934664/
Autor:
Hillary P. Handler, Lisa Duvick, Jason S. Mitchell, Marija Cvetanovic, Molly Reighard, Alyssa Soles, Kathleen B. Mather, Orion Rainwater, Shannah Serres, Tessa Nichols-Meade, Stephanie L. Coffin, Yun You, Brian L. Ruis, Brennon O’Callaghan, Christine Henzler, Huda Y. Zoghbi, Harry T. Orr
Publikováno v:
Neuron. 111:493-507.e6
Spinocerebellar ataxia type 1 (SCA1) is a dominant trinucleotide repeat neurodegenerative disease characterized by motor dysfunction, cognitive impairment, and premature death. Degeneration of cerebellar Purkinje cells is a frequent and prominent pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae12659a358482226c7e82183d64359
https://doi.org/10.1016/j.neuron.2022.11.017
https://doi.org/10.1016/j.neuron.2022.11.017
Autor:
Hillary P. Handler, Lisa Duvick, Jason Mitchell, Marija Cvetanovic, Molly Reighard, Alyssa Soles, Orion Rainwater, Shannah Serres, Tessa Nichols-Meade, Stephanie L. Coffin, Yun You, Brian Ruis, Brennon O’Callaghan, Christine Henzler, Huda Y. Zoghbi, Harry T. Orr
SUMMARYSpinocerebellar ataxia type 1 (SCA1) is a dominant trinucleotide repeat neurodegenerative disease characterized by motor dysfunction, cognitive impairment, and premature death. Degeneration of cerebellar Purkinje cells is a frequent and promin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99b0a7086a08ec6f57f5d9f58b01f2e7
https://doi.org/10.1101/2021.12.16.472987
https://doi.org/10.1101/2021.12.16.472987