<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
Movements of tectonic plates create volcanoes along the plate boundaries, which erupt and form mountains. A volcanic arc system is a series of volcanoes that form near a subduction zone where the crust of a sinking oceanic plate melts.
They are really different then most kinds<span />
Answer:
Atmosphere and geosphere is the part of the earth which is utilized in the nitrogen cycle.
Explanation:
In nitrogen cycle, the nitrogen which is present in the atmosphere comes down to the earth surface through rainfall. This nitrogen is absorbed by the earth and taken by roots of plants. Some amount of nitrogen is taken by many bacteria such as denitrifying bacteria which converts the soil nitrogen into atmospheric nitrogen and the nitrogen goes again to the atmosphere.
