<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:
May be of the environment they live or genetics.
Explanation:
This naked mole rat species evolved back to an ectothermic life style rather than staying endothermic like all other mammals because of the environment they live or change in the genetic makeup. The main reason for this evolution may be the environmental they lives or through the change in genetic makeup of this naked mole rat species so both factors can contribute in the evolution.
I think dallas texas would be warmer.
Answer:
A disruption of homeostasis
Explanation:
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Answer:
Compound: These are made of the various type of same or different elements. These elements show a specific ratio in a particular compound.
The physical properties are traits of a particular compound or element that can be observed physically like the state of matter, color, odor, and other. The chemical properties and physical properties of compounds and elements they formed are different.
It is not comparable as the elements have no or very little individual value in a compound. For instance, water made of hydrogen and oxygen, where water is liquid and constituents are gas.
