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Iteru [2.4K]
3 years ago
7

How does loseing laforin give you epilepsy ( please use lots of detail in the answer)

Biology
1 answer:
Deffense [45]3 years ago
4 0
<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
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Enzymes are used in which types of cells? plant cells animal cells both of the above neither of the above
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Both of the above, is the correct answer

7 0
3 years ago
The loss of color (coral bleaching in coral reef organisms can be a result of
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Hello there ^ _ ^

The loss of color(coral bleaching in coral reef organisms can be a result of <span>loss of zooxanthellae.


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7 0
3 years ago
Which of the following is an inference?
kaheart [24]
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2 years ago
Beaks in African black-bellied seedcracker finches are small or large, but not intermediate in size. This is an example of
alexdok [17]

Answer:

disruptive selection

Explanation:

Disruptive selection may be defined as a type of a natural selection which selects against some average individual in a given population. These makeup of such a type of the population shows the phenotypes of both the extremes of characteristics but they have very few individuals in the middle.

Disruptive selection is also known as diversifying selection.

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4 0
3 years ago
Air that enters the pleural space during inspiration but is unable to exit during expiration creates a condition called
azamat

Air that enters the pleural space during inspiration but is unable to exit during expiration creates a condition called Pneumothorax.

<h3>What is Pneumothorax?</h3>

An abnormal buildup of air in the pleural space between the lung and the chest wall is known as a pneumothorax. Shortness of breath and quick, acute, one-sided chest discomfort are common symptoms .  A tension pneumothorax happens when an area of injured tissue forms a one-way valve, increasing the amount of air in the gap between the chest wall and the lungs.  As a result, there may be an oxygen deficiency that worsens with time and low blood pressure. Obstructive shock is a type of shock that results from this and can be lethal if left untreated.  A pneumothorax can very infrequently affect both lungs.  Although the term "collapsed lung" can also refer to atelectasis, it is frequently used to describe it.

Learn more about Pneumothorax with the help of the given link:

brainly.com/question/27974865

#SPJ4



4 0
1 year ago
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