<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
Answer:
DNA/ Traits
Explanation:
they trace species origins back and find common point and every time they do, they connect them on the line, creating something that looks like "branches" google "cladogram"
Answer:
increases; protein denaturation occurs
Explanation:
One of the characteristic of enzymes is the sensitivity to temperature .
Enzymes are sensitive to the changes in the environmental temperature.The enzymatic activities increases with increase in temperature,up to the optimum of 37 degrees in most animals.
However,once the optimum temperature has been exceeded,enzyme activities drops.This is because below optimum the rate of collision between the enzyme active sites and substrate molecules is very high,therefore more products are formed which increases the rate of reactions.
At temperature above the optimum,the high temperature breaks the bonds,especially the hydrogen bonds holding the 3D structure of the active sites.Therefore,substrate molecules can not fit into the active site,and therefore enzymatic actives of the enzyme is affected,and the enzyme is said to be denatured
Gulls, crows and herons are all opportunists. They'll eat just about anything that they can get their beaks on. That includes fiddler crabs.
Exocytosis is ana ctive transport method and does not include any transport protein. whereas calcium ions pass through the membrane with the help of trans- membrane protein. These proteins make pores inside hydrophobic membrane and allow the ions to pass though it.
