TY  - JOUR
AU  - Fernández-Sánchez, M. E.
AU  - Criado-García, O.
AU  - Heath, K. E.
AU  - García-Fojeda García-Valdecasas, María Belén
AU  - Medraño-Fernández, Iria
AU  - Gómez-Garre, Pilar
AU  - Sanz, Pascual
AU  - Serratosa, José María
AU  - Rodríguez de Córdoba, Santiago
PY  - 2003
DO  - 10.1093/hmg/ddg340
SN  - 1460-2083
UR  - https://hdl.handle.net/20.500.14352/98262
T2  - Human Molecular Genetics
AB  - Progressive myoclonus epilepsy of Lafora type (LD, MIM 254780) is a fatal autosomal recessive disorder characterized by the presence of progressive neurological deterioration, myoclonus, epilepsy and polyglucosan intracellular inclusion bodies, called...
LA  - eng
M2  - 3161
PB  - Oxford University Press
KW  - Mutation
KW  - Amino acids
KW  - Glycogen
KW  - Glycogen (starch) synthase
KW  - Lafora disease
KW  - Protein phosphatase
KW  - Phosphoric monoester hydrolases
KW  - Yeasts
KW  - Mice
TI  - Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation
TY  - journal article
VL  - 12
ER  -