Publications by authors named "Lorena Kumarasinghe"
Article Synopsis
- Lafora disease (LD) is a neurological condition marked by progressive myoclonus epilepsy and the accumulation of insoluble glycogen forms, known as polyglucosan bodies (PGBs), in the brain.
- Recent research shows that astrocytes, a type of brain cell, are the primary accumulators of PGBs, which may lead to their dysfunction and contribute to disease symptoms.
- By using primary cultures of astrocytes from LD mice, researchers are exploring the metabolic changes and potential treatments to reduce PGB accumulation, finding that these cells exhibit increased glucose uptake and can help identify compounds that may alleviate PGB-related issues.
Tripartite motif (TRIM) proteins are RING E3 ubiquitin ligases defined by a shared domain structure. Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrophy R8 and Lafora disease, respectively. These two proteins are evolutionary related, share a common ancestor, and both display NHL repeats at their C-terminus.
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