<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:
They would Mix?
Explanation:
This is a really good question if they don't mix then i guess they'd have 50% chance of being blue and 50% chance of it being purple
R R P U R P L E
_________
R | RR | RR |
_________
R | RR | RR |
_________
B
L
U
E
Explanation:
Pisciulture is the scientific study of rearing fish...
The Tricuspid Valve<span>. The tricuspid </span>valve<span> is the three-leaflet </span>valve<span> on </span>the right<span> side of the heart between </span>the right<span> atrium and </span>the right ventricle<span> and stops the </span>backflow of blood<span> between the two. I hope this helps!!</span>
The answers are hopefully in the image
