basic FUNCTION
| may be having an E3 ubiquitin ligase function |
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could function in concert or upstream of laforin in the control of glycogen phosphorylation (Tagliabracci 2008) |
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could regulate glycogen phosphorylation independently of laforin, for example down-regulating enzyme(s) responsible for introducing phosphate into glycogen (Tagliabracci 2008) |
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ubiquitinate and promote the clearance of its substrates through proteasomal degradation (Garyali 2009) |
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regulates WNT signaling pathway through the degradation of DVL2, suggesting possible deregulation of WNT signaling in Lafora disease |
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functions to regulate EPM2A and NHLRC1 deficiency at least in part causes Lafora bodies (LB) and Lafora disease (LD) through increased EPM2A binding to glycogen |
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role of the EPM2A/NHLRC1 complex in the activation of autophagy via regulation of the PI3KC3 complex that explain the defect in autophagy described in Lafora disease |