<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:
Glucose
Oxygen gas
Explanation:
Glucose is a non-metallic carbohydrate substance. It is the monomeric unit of the digestion of complex carbohydrate.
This compound is very important to all lives. The energy needed to power the activities in the body are derived from the compound.
It is made up of carbon, hydrogen and oxygen atoms.
Also, oxygen gas is used by animals for their metabolic processes. The gas combines with glucose to release chemical energy for use in the body. This molecule is purely made up of two atoms of oxygen that are covalently bonded together.
Anytime we breathe, we take in oxygen for use in our body
Scientists can learn, which types of organisms were more common during time periods, how species have evolved over time, and the relative age of different species. Sedimentary rocks can contain fossils because, unlike most igneous and metamorphic rocks, they form at temperature and pressures that do not destroy fossil remains. Dead organisms can become sediments which may, under the right conditions, become sedimentary rocks.
Answer:
I believe the answer is vitamins or fats.
Explanation:
Fish is very good for you! It comes with all sorts of <u>nutrients</u>. There is vitamin D and B2 as well as Omega-3 fatty acids in fish. (There are a lot of other stuff it has but i believe those are the big ones)
That is why i would say it is either <em>fats</em>, or <em>vitamins.</em>
<em>Hope this helps.</em>
Answer:
VEGF is a paracrine signaling molecule because it binds to receptors on nearby cells, at the site where new blood vessels are needed.
Explanation:
The platelet derived growth factors utilizes VEGF (Vascular endothelial growth factor) as a signalling molecule. Cell communication between close cells are aided by Paracrine signalling such as VEGF which forms new blood vessels to its close cells by binding with the receptors