Limk

Abstract

Laforin mRNA is widely expressed in the human body. All tissues examined contain laforin mRNA, including: brain, heart, skeletal muscle, liver, lung, placenta, kidney, testis, spleen, thymus, prostate, ovary, small intestine, and pancreas (Minassian et al. 1998). Various brain regions such as the cerebellum, cortex, medulla, putamen, and spinal cord also express laforin transcript at similar levels, demonstrating the ubiquitous Laforin, Fig. 1 A schematic of laforin. Laforin contains an amino-terminal carbohydrate-binding module (CBM) followed by a dual specificity phosphatase (DSP) domain. Lafora disease missense mutations affect residues throughout the protein and have differential effects on laforin activity