| 105193 | Q8BR37 | NHLC1_MOUSE | E3 ubiquitin-protein ligase NHLRC1 (EC 2.3.2.27) (Malin) (NHL repeat-containing protein 1) (RING-type E3 ubiquitin transferase NHLRC1) | DISRUPTION PHENOTYPE | Significant impairment of motor activity, coordination and balance; spontaneous myoclonic seizures; and decreases in episodic memory. 3- and 6-month old mice contain numerous large insoluble aggregates composed mainly of polyglucosans called Lafora bodies (LBs) in skeletal muscle, liver, heart and brain. Glycogen levels are increased 1.6-fold and 1.2-fold respectively in skeletal muscle and liver of 6-month old mice. Glycogen phosphate levels are increased 1.5-fold in skeletal muscle and liver of 6-month old mice. In brain extracts from 1-, 3- and 12-month old mice, total amounts of Epm2b/laforin protein (but not mRNA) are increased. In brain and embryonic fibroblast cells, levels of the autophagy marker Map1lc3b/LC3-II are reduced. In the brain, levels of the autophagy dysfunction marker Sqstm1/p62 are increased. {ECO:0000269|PubMed:21077101, ECO:0000269|PubMed:22186026, ECO:0000269|PubMed:22669944}. |