<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
<span>Antibiotic resistance arises due to the evolution of the organisms they are designed to destroy. Subsequent generations of such organisms develop resistance to the antibiotic. Hospitals' overuse of antibiotics quickens the process, as does the administration of antibiotics to feedlot cattle, whose meat is consumed by people.</span>
Answer:
If the hydronium concentration increases, the pH decreases, causing the solution to become more acidic. This happens when an acid is introduced. As H+ ions dissociate from the acid and bond with water, they form hydronium ions, thus increasing the hydronium concentration of the solution.
Answer:
D. Sun > Grass > Mouse > Owl
Explanation:
the arrows show the flow of energy; in other words they show who is receiving the energy
Coal from swamp plants that formed millions of years ago.
