<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:
Typically, tortoises live entirely on land, while sea turtles live entirely in the water – they only come on land to lay eggs.
Explanation:
i know a lot about turtles and tortoise
Answer:A radical (often, but unnecessarily called a free radical) is an atom or group of atoms that have one or more unpaired electrons. ... A prominent feature of radicals is that they have extremely high chemical reactivity, which explains not only their normal biological activities, but how they inflict damage on cells.
Explanation:CAN I GET BRAINLIEST PLZZZZZZZZZZZ
Im not sure cuz why theres O in there? I thought there’s only 4 bases Adenine Thymine Guanine Cytosine and in RNA there’s Uracil instead of Thymine. Sorry