<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
The step that is part in the
formation of the batholiths is a single pluton enlarges into a huge mass by melting
the rock around it. A single pluton does not enlarge into a huge mass, instead,
it will melt due to the buoyant magma that surrounds it.
Answer: I wish that I could help you, but I don't know what the assignment is and what exactly am I supposed to put in the chart?
The statement is - False.
The vinegaroon has became very similar in appearance to the scorpions, by having similar body, similar proportions to certain species, having a whip tail. The whip tail though is not a mimic for the scorpion's pincher claws, but instead, it is a mimic of the scorpion's stinger. This adaptation of the vinegaroon has the purpose to fend of the predators by making them think that it is actually a scorpion and that they will get a nasty poisonous sting. This type of adaptations by mimicking certain traits of more dangerous species can be found in lot of animals from all shapes and sizes.
