[HTML][HTML] Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease

J Sharma, D Mukherjee, SNR Rao, S Iyengar… - Journal of Biological …, 2013 - ASBMB
Lafora disease (LD) is a teenage-onset inherited progressive myoclonus epilepsy
characterized by the accumulations of intracellular inclusions called Lafora bodies and
caused by mutations in protein phosphatase laforin or ubiquitin ligase malin. But how the
loss of function of either laforin or malin causes disease pathogenesis is poorly understood.
Recently, neuronatin was identified as a novel substrate of malin that regulates glycogen
synthesis. Here we demonstrate that the level of neuronatin is significantly up-regulated in …