Lafora disease offers a unique window into neuronal glycogen metabolism.

Gentry, Matthew S; Guinovart, Joan J; Minassian, Berge A; Roach, Peter J; Serratosa, Jose M

Gentry, Matthew S; Guinovart, Joan J; Minassian, Berge A; Roach, Peter J; Serratosa, Jose M.

Afiliación

Gentry MS; Lafora Epilepsy Cure Initiative, Lexington, Kentucky 40503; Department of Biochemistry and Molecular Biology, Lexington, Kentucky 40503; University of Kentucky Epilepsy Research Center (EpiC), University of Kentucky, Lexington, Kentucky 40503. Electronic address: matthew.gentry@uky.edu.
Guinovart JJ; Lafora Epilepsy Cure Initiative, Lexington, Kentucky 40503; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, 08028 Barcelona, Spain; Biomedical Research Networking Center in Diabetes and Associated Metabolic Disorders (CIBERDEM), 28029 Madrid, Spa
Minassian BA; Lafora Epilepsy Cure Initiative, Lexington, Kentucky 40503; Department of Pediatrics and Dallas Children's Medical Center, University of Texas Southwestern, Dallas, Texas 75390-9063; Department of Pediatrics, The Hospital for Sick Children Research Institute, University of Toronto, Toronto, Ontario
Roach PJ; Lafora Epilepsy Cure Initiative, Lexington, Kentucky 40503; Department of Biochemistry and Molecular Biology, Center for Diabetes and Metabolic Diseases and Stark Neurosciences Research Institute, Indiana University School of Medicine, Indianapolis, Indiana 46202.
Serratosa JM; Lafora Epilepsy Cure Initiative, Lexington, Kentucky 40503; Laboratory of Neurology, IIS-Jimenez Diaz Foundation, UAM, 28045 Madrid, Spain; Biomedical Research Networking Center on Rare Diseases (CIBERER), 28029 Madrid, Spain.

J Biol Chem ; 293(19): 7117-7125, 2018 05 11.

Article en En | MEDLINE | ID: mdl-29483193

Asunto(s)

Glucógeno/metabolismo; Enfermedad de Lafora/metabolismo; Neuronas/metabolismo; Animales; Conformación de Carbohidratos; Proteínas Portadoras/genética; Modelos Animales de Enfermedad; Glucógeno/biosíntesis; Glucógeno/química; Glucógeno Fosforilasa/genética; Humanos; Enfermedad de Lafora/genética; Enfermedad de Lafora/patología; Enfermedad de Lafora/terapia; Fosfatos/metabolismo; Fosforilación; Proteínas Tirosina Fosfatasas no Receptoras/genética; Ubiquitina-Proteína Ligasas/genética

Palabras clave

E3 ubiquitin ligase; Lafora disease (Lafora progressive myoclonic epilepsy, MELF); carbohydrate binding module; epilepsy; glycogen; glycogen storage disease; phosphatase; phosphorylation

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Lafora / Glucógeno / Neuronas Límite: Animals / Humans Idioma: En Revista: J Biol Chem Año: 2018 Tipo del documento: Article

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