<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:
20
Explanation:
Mitosis is a process in which a cell produces an exact copy of itself. The 2 daughter cells produced from mitosis have the same number of chromatids as the parent cell.
Answer:
Organelles are vital for the function of a cell and represent the various “workers” within the cell with specialized functions.
Organelles, or more accurately, cellular organelles are essential for understanding cells and cellular structure.
<span>Surface currents are generated largely by wind. Their patterns are determined by wind direction, Coriolis forces from the Earth’s rotation, and the position of landforms that interact with the currents. Surface wind-driven currents generate upwelling currents in conjunction with landforms, creating deepwater currents. </span>
