Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jillian Friedrich"'
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:
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:
Michael A. Benneyworth, Rachel Ter Haar, Holly Kordasiewicz, Jillian Friedrich, Orion Rainwater, Lisa A. Duvick, Wesley Heal, Praseuth Yang, Tessa Nichols-Meade, Tracy Cole, Bente Hofstra, Christine Henzler, Brennon L. O'Callaghan, Hillary P Handler, Harry T. Orr
Publikováno v:
Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 21, Iss, Pp 1006-1016 (2020)
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea4f084766562b635db139631308a91
https://pubmed.ncbi.nlm.nih.gov/32818920
https://pubmed.ncbi.nlm.nih.gov/32818920
Autor:
Jessica M. Strasser, Michael A. Walters, Carolyn J. Adamski, Huda Y. Zoghbi, Lisa A. Duvick, Christine Henzler, Nicholas Toker, Jillian Friedrich, Harry T. Orr, Nissa Mollema, Judit M. Pérez Ortiz, Jon E. Hawkinson, Brennon L. O'Callaghan, 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://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c239893e63322b806cb22edb783e16d
http://www.sciencedirect.com/science/article/pii/S0969996118301402
http://www.sciencedirect.com/science/article/pii/S0969996118301402
Autor:
Brennon L. O'Callaghan, Zhao Chen, Harry T. Orr, H. Brent Clark, Holly B. Kordasiewicz, Bente Hofstra, Tessa Nichols-Meade, Hillary P Handler, Jillian Friedrich, Eric E. Swayze, Gülin Öz, Lisa A. Duvick, Michael A. Benneyworth, Carmen Wagener, Christine Henzler, Sarah N. Larson, Judit M. Pérez Ortiz, Huda Y. Zoghbi, Orion Rainwater, Praseuth Yang
Publikováno v:
JCI Insight. 3
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited ataxia caused by expansion of a translated CAG repeat encoding a glutamine tract in the ataxin-1 (ATXN1) protein. Despite advances in understanding the pathogenesis of SCA1, there are sti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63165077c86ce3d5b6b369a097aad187
https://doi.org/10.1172/jci.insight.123193
https://doi.org/10.1172/jci.insight.123193
Autor:
Weili Chen, Harry T. Orr, Roy V. Sillitoe, Carolyn J. Adamski, Lisa A. Duvick, Jillian Friedrich, Kirk Twaroski, Tao Lin, Maxime W.C. Rousseaux, Hsiang Chih Lu, Zhandong Liu, Aleksandar Bajić, Jakub Tolar, Ajay Sharma, Elizabeth P. Lackey, Vitaliy V. Bondar, Ying Wooi Wan, Huda Y. Zoghbi, Christine Henzler, Qiumin Tan, Tyler Tschumperlin
Publikováno v:
Neuron. 97:1235-1243.e5
Polyglutamine (polyQ) diseases are caused by expansion of translated CAG repeats in distinct genes leading to altered protein function. In spinocerebellar ataxia type 1 (SCA1), a gain of function of polyQ-expanded ataxin-1 (ATXN1) contributes to cere
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0f2d74baf68ead3f14f6dd0dcab800e
https://doi.org/10.1016/j.neuron.2018.02.013
https://doi.org/10.1016/j.neuron.2018.02.013