<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:
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true
energy transfers from your finger to the ice cube
Explanation:
Single lensed Microscope for observing bacteria and protozoan
Answer:
The correct answer is option a, that is, cerebellum.
Explanation:
Alcohol acts as a CNS depressant. When more amount of alcohol is taken and the levels of alcohol rise within the body, some sections of the brain get influenced and a reduction in the functioning is witnessed in that particular part.
The region of the brain accountable for coordinating movement and also some kinds of learning seems to be sensitive specifically to the consumption of alcohol. Thus, cerebellum is the part of the brain, which gets most affected due to the consumption of alcohol. Therefore, test is performed to witness the balance of an individual, as cerebellum is the part of the brain responsible for appropriate posture and balance.
A : a car driving down a hill
