<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
Explanation:
Temprature:the body must maintain a relatively constant temperature if it gets to hot the body employees vasodilation to cool down this delites the blood vessels allowing more heat to escape from them through the skin
Glucose: the body must regulate glucose levels to stay healthy. When glucose levels become to high the body realeases a hormone called an insulinwhen they become to low the body converts the glocogenin the blood to glucose
Toxins :in the blood can distrupt the body's homeostasis thus it signals the urinary system to ensure that the toxins are excreated
Electrons get “excited” or charged by sunlight, then they move on through the photosystem 2 and 1 along the etc or electron transport chain
Answer:
No more reactions occurs.
Explanation:
The activity of other metabolic pathways also change in response to the proton which enters mitochondria without passing through ATP synthase because ATP synthase is responsible for the production of ATP molecules from proton. If this ATP is not produced no further reactions occurs in the cell. This ATP is used by the cells in various activities so if the proton does not pass through ATP synthase then no energy in the form of ATP is present for other metabolic pathways of the cells.
Answer: This is called chlorine
Explanation: 18
