<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:
D. Nitrogen-14 has 7 electrons, 7 protons, 7 neutrons nitrogen-15 has 7 electrons, 7 protons, and 8 neutrons
Explanation:
In an atom, number of electrons is equal to the number of protons. And the number of neutrons is equal to the difference between the mass number of the atom and the atomic number. For Nitrogen 14, electron is 7, proton is also 7 as number of electrons and number of protons are equal. So, the neutron will be 14-7= 7. For Nitrogen 15, electron number is 7 so proton number will be also 7. Neutron number for nitrogen 15 will be 15-7= 8. That's why the answer is option number 4.
