Výsledky vyhledávání - "Shoghig Gabrielian"

Ketogenic diet reduces Lafora bodies in murine Lafora disease

Autor: Lori Israelian, Xiaochu Zhao, Berge A. Minassian, Shoghig Gabrielian, Peixiang Wang

Publikováno v: Neurology: Genetics
article-version (Version of Record) 3

Lafora disease (LD) is a teenage-onset fatal progressive myoclonus epilepsy caused by loss-of-function mutations in the EPM2A gene encoding the glycogen phosphatase laforin or EPM2B encoding the laforin-interacting ubiquitin E3 ligase malin. Concerte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c63ca1730c012e1e1c6c909c14af2bd
http://europepmc.org/articles/PMC7713716

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An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice

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

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