Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Erin E. Chown"'
Autor:
Katie Birchard, Hannah G. Driver, Dami Ademidun, Yuliana Bedolla-Guzmán, Tim Birt, Erin E. Chown, Petra Deane, Bronwyn A. S. Harkness, Austin Morrin, Juan F. Masello, Rebecca S. Taylor, Vicki L. Friesen
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Annual cues in the environment result in physiological changes that allow organisms to time reproduction during periods of optimal resource availability. Understanding how circadian rhythm genes sense these environmental cues and stimulate t
Externí odkaz:
https://doaj.org/article/43361a77f71b48878468b8cb6261e589
Autor:
Sharmistha Mitra, Baozhi Chen, Peixiang Wang, Erin E. Chown, Mathew Dear, Dikran R. Guisso, Ummay Mariam, Jun Wu, Emrah Gumusgoz, Berge A. Minassian
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 1 (2023)
Externí odkaz:
https://doaj.org/article/24f6a47e51664198bbbbbe98bb91751b
Autor:
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2186-2198 (2020)
Abstract Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of po
Externí odkaz:
https://doaj.org/article/17d8578f86794d68bd05a48ab3d0c12b
Autor:
Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang, Xiaochu Zhao, Xiao S. Pan, Erin E. Chown, Travis Wang, Ami M. Perri, Jennifer P.Y. Lee, Francisco Vilaplana, Berge A. Minassian, Felix Nitschke
Publikováno v:
Cell Reports, Vol 27, Iss 5, Pp 1334-1344.e6 (2019)
Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood. Here, in two mouse mode
Externí odkaz:
https://doaj.org/article/93cbd4080dd64d3b94ee2bdd6691b639
Autor:
Felix Nitschke, Mitchell A Sullivan, Peixiang Wang, Xiaochu Zhao, Erin E Chown, Ami M Perri, Lori Israelian, Lucia Juana‐López, Paola Bovolenta, Santiago Rodríguez de Córdoba, Martin Steup, Berge A Minassian
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 7, Pp 906-917 (2017)
Abstract Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss‐of‐function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated and poorly hydrosoluble. It
Externí odkaz:
https://doaj.org/article/a2b1331cf25e4a71adbb2ac75bba0a1b
Autor:
Silvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, Charlotte R Marchioni, Jennifer P Y Lee, Brandon H Smith, Saija Ahonen, Jun Wu, Erin E Chown, Peixiang Wang, Sara Petković, Xiaochu Zhao, Laura F DiGiovanni, Ami M Perri, Lori Israelian, Tamar R Grossman, Holly Kordasiewicz, Francisco Vilaplana, Kazuhiro Iwai, Felix Nitschke, Berge A Minassian
Publikováno v:
Brain
Longer glucan chains tend to precipitate. Glycogen, by far the largest mammalian glucan and the largest molecule in the cytosol with up to 55 000 glucoses, does not, due to a highly regularly branched spherical structure that allows it to be perfused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59293c4929b2bbb5d47f012bf06d7c1
https://doi.org/10.1093/brain/awac017
https://doi.org/10.1093/brain/awac017
Autor:
Justin J. Crowder, Erin E. Chown, Bret M. Evers, Mitchell A. Sullivan, Jordan W. Strober, Bartholomew A. Pederson, Peter J. Roach, Berge A. Minassian, Cody S. Bennett, Xiaochu Zhao, Anna A. DePaoli-Roach, H. Orhan Akman, Ami M. Perri, Yunlin Xue, Peixiang Wang
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2186-2198 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly bran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d7dca86f316ac2c81dceff9e55f893e
https://doaj.org/article/17d8578f86794d68bd05a48ab3d0c12b
https://doaj.org/article/17d8578f86794d68bd05a48ab3d0c12b
Autor:
Felix Nitschke, Jennifer P.Y. Lee, Xiaochu Zhao, Travis Wang, Peixiang Wang, Ami M. Perri, Mitchell A. Sullivan, Francisco Vilaplana, Evan P. Skwara, Berge A. Minassian, Xiao S. Pan, Silvia Nitschke, Erin E. Chown
Publikováno v:
Cell Reports, Vol 27, Iss 5, Pp 1334-1344.e6 (2019)
Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood. Here, in two mouse mode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d069dec9a1178e1484bc1a3ea9975f71
http://www.sciencedirect.com/science/article/pii/S2211124719304826
http://www.sciencedirect.com/science/article/pii/S2211124719304826
Autor:
Xiaochu Zhao, Martin Steup, Lori Israelian, Mitchell A. Sullivan, Santiago Rodríguez de Córdoba, Ami M. Perri, Peixiang Wang, Erin E. Chown, Berge A. Minassian, Lucía Juana-López, Paola Bovolenta, Felix Nitschke
Publikováno v:
EMBO Molecular Medicine
Digital.CSIC. Repositorio Institucional del CSIC
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Digital.CSIC. Repositorio Institucional del CSIC
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12 p.-7 fig. Nitschke, Felix et al.
Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss-of-function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated
Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss-of-function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. Glycogen in LD is hyperphosphorylated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91b5842f1f29e11ee1a911c44c7b059
http://europepmc.org/articles/PMC5494504
http://europepmc.org/articles/PMC5494504
Autor:
Saija Ahonen, Sara Petković, Silvia Nitschke, Ami M. Perri, Berge A. Minassian, Erin E. Chown, Xiaochu Zhao, Dikran R Guisso, Shoghig Gabrielian, Felix Nitschke, Peixiang Wang
Publikováno v:
The Journal of Biological Chemistry
Malstructured glycogen accumulates over time in Lafora disease (LD) and precipitates into Lafora bodies (LBs), leading to neurodegeneration and intractable fatal epilepsy. Constitutive reduction of glycogen synthase-1 (GYS1) activity prevents murine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da255d8aba5c189be5ac74a2ddc77d7d
https://doi.org/10.1074/jbc.ra120.015773
https://doi.org/10.1074/jbc.ra120.015773