Article
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.
Human molecular genetics - 15 Sept 2003
Ganesh Subramaniam, Tsurutani Naomi, Suzuki Toshimitsu, Ueda Kazunori, Agarwala Kishan Lal, Osada Hiroyuki, Delgado-Escueta Antonio V, Yamakawa Kazuhiro
Abstract excerpt
Lafora disease is an autosomal recessive type of progressive myoclonus epilepsy caused by mutations in the EPM2A gene. The EPM2A gene-encoded protein laforin is a dual-specificity phosphatase that associates with polyribosomes. Because the cellular functions of laforin are largely unknown, we use...
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