<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:
0.0025micrometer.
Explanation:
To calculate the actual size of the image, the formula to be used is
Actual size=Image size÷magnification.
The image size is 0.00005 wide
Magnification is 2000
First, convert the image size to micrometer.
=0.00005 × 1000000
50micrometers.
Actual size= 50÷2000
Actual size = 0.0025
Answer:
Because it was a dead language.
Explanation:
Nobody uses latin anymore.
<span>The correct answer should be that the carnivore population would also increase. Since they eat the herbivores, if the amount of herbivores increased there would be more food for the carnivores so they wouldn't have to worry about anything and could thrive, feeding themselves without worrying for food.</span>
Answer:
Membrane B, because it is composed of unsaturated fatty acids that have one or more bends, which prevent tight packing.
