9931343 |
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
Michelucci, R,
Gallardo, ME,
de Córdoba, SR,
Tassinari, CA,
Dravet, C,
Malafosse, A,
Augustijn, PB,
Gómez-Garre, P,
Berkovic, SF,
Lindhout, D,
de Bernabé, DB,
Serratosa, JM,
Grid, D,
Anta, B,
Topcu, M
|
Hum. Mol. Genet. |
1999 |
21356517 |
Phosphate incorporation during glycogen synthesis and Lafora disease
Ishihara, M,
Hurley, TD,
Glushka, J,
Heiss, C,
Karthik, C,
Roach, PJ,
Contreras, CJ,
Tagliabracci, VS,
DePaoli-Roach, AA,
Azadi, P
|
Cell Metab. |
2011 |
9771710 |
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
Jardim, L,
Snead, OC,
Soder, S,
Lee, JR,
Dunham, I,
Huizenga, J,
Delgado-Escueta, AV,
Mungall, AJ,
Satishchandra, P,
Tsui, LC,
Gardner, R,
Scherer, SW,
Andermann, E,
Rouleau, GA,
Lopes-Cendes, I,
Herbrick, JA,
Carpenter, S,
Fong, CY,
Minassian, BA
|
Nat. Genet. |
1998 |
14532330 |
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation
Heath, KE,
Rodríguez de Córdoba, S,
Fernández-Sánchez, ME,
Gómez-Garre, P,
Medraño-Fernández, I,
Criado-García, O,
García-Fojeda, B,
Serratosa, JM,
Sanz, P
|
Hum. Mol. Genet. |
2003 |