Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Joan J. Guinovart"'
Autor:
Agnès Gruart, Carles Bosch, Jordi Duran, Xavier Cañas, Jordi Valles-Ortega, Isabel Saez, Eduardo Soriano, Joan J. Guinovart, José M. Delgado-García, Anna Serafín, Mar García-Rocha, Lluís Pujadas
Publikováno v:
EMBO Molecular Medicine
EMBO Molecular Medicine; Vol 3
EMBO Molecular Medicine; Vol 3
Lafora disease (LD) is caused by mutations in either the laforin or malin gene. The hallmark of the disease is the accumulation of polyglucosan inclusions called Lafora Bodies (LBs). Malin knockout (KO) mice present polyglucosan accumulations in seve
Autor:
Jordi Duran, Joan J. Guinovart, Maria Florencia Tevy, Joaquim Calbó, Marco Milán, Mar García-Rocha
Publikováno v:
EMBO Molecular Medicine
Under physiological conditions, most neurons keep glycogen synthase (GS) in an inactive form and do not show detectable levels of glycogen. Nevertheless, aberrant glycogen accumulation in neurons is a hallmark of patients suffering from Lafora diseas