<span>Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which encodes two isoforms of the laforin protein tyrosine phosphatase, having alternate carboxyl termini, one localized in the cytoplasm (endoplasmic reticulum) and the other in the nucleus. To date, all documented disease mutations, including the knockout mouse model deletion, have been in the segment of the protein common to both isoforms. It is therefore not known whether dysfunction of the cytoplasmic, nuclear, or both isoforms leads to the disease. In the present work, we identify six novel mutations, one of which, c.950insT (Q319fs), is the first mutation specific to the cytoplasmic laforin isoform, implicating this isoform in disease pathogenesis. To confirm this mutation's deleterious effect on laforin, we studied the resultant protein's subcellular localization and function and show a drastic reduction in its phosphatase activity, despite maintenance of its location at the endoplasmic reticulum.
I got my information from </span>https://www.ncbi.nlm.nih.gov/pubmed/14722920
Biodiversity is variety of life. Bio means life and diversity means change, different forms of life. The world constitute different species of plants and animals. Have a nice day!
Radio Waves • have a short wavelength to transfer to your tv and FM radio
Satellite Signals. • Pass easily through the Atmosphere and clouds used for microwaves,Toasters,Remote Controls
<span>Taxonomy is the classification or grouping of organisms into groups, based on shared or similar characteristics. The criteria used for including an organism in a group can be controversial. An example of a taxon is the class Reptilia.</span>
They have to have a higher density than water to have the ability to stay on the sea floor. Otherwise they would just float to the surface of the water
