Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease.

Israelian, Lori; Nitschke, Silvia; Wang, Peixiang; Zhao, Xiaochu; Perri, Ami M; Lee, Jennifer P Y; Verhalen, Brandy; Nitschke, Felix; Minassian, Berge A

Israelian, Lori; Nitschke, Silvia; Wang, Peixiang; Zhao, Xiaochu; Perri, Ami M; Lee, Jennifer P Y; Verhalen, Brandy; Nitschke, Felix; Minassian, Berge A.

Afiliación

Israelian L; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
Nitschke S; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Wang P; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Zhao X; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Perri AM; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Lee JPY; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Verhalen B; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Nitschke F; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Minassian BA; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.

J Neurochem ; 157(6): 1897-1910, 2021 06.

Article en En | MEDLINE | ID: mdl-32892347

Asunto(s)

Modelos Animales de Enfermedad; Enfermedad de Lafora/metabolismo; Miocardio/metabolismo; Neuronas/metabolismo; Proteína Fosfatasa 1/deficiencia; Animales; Encéfalo/metabolismo; Encéfalo/patología; Femenino; Glucógeno/metabolismo; Humanos; Enfermedad de Lafora/genética; Enfermedad de Lafora/patología; Masculino; Ratones; Ratones de la Cepa 129; Ratones Endogámicos C57BL; Ratones Noqueados; Miocardio/patología; Neuronas/patología; Proteína Fosfatasa 1/genética

Palabras clave

Lafora; PPP1R3D; glycogen; glycogen synthase; glycogen targeting subunit; laforin

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Lafora / Modelos Animales de Enfermedad / Proteína Fosfatasa 1 / Miocardio / Neuronas Límite: Animals / Female / Humans / Male Idioma: En Revista: J Neurochem Año: 2021 Tipo del documento: Article País de afiliación: Canadá

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