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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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Roles of gases between photosynthesis and cellular respiration?
Basile [38]

Answer:

  • Cellular Respiration: C6H12O6 + 6O2 → 6CO2 + 6H2O
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Photosynthesis makes the glucose that is used in cellular respiration to make ATP. The glucose is then turned back into carbon dioxide, which is used in photosynthesis. While water is broken down to form oxygen during photosynthesis, in cellular respiration oxygen is combined with hydrogen to form water. While photosynthesis requires carbon dioxide and releases oxygen, cellular respiration requires oxygen and releases carbon dioxide. It is the released oxygen that is used by us and most other organisms for cellular respiration. We breathe in that oxygen, which is carried through our blood to all our cells. In our cells, oxygen allows cellular respiration to proceed. Cellular respiration works best in the presence of oxygen. Without oxygen, much less ATP would be produced.

Cellular respiration and photosynthesis are important parts of the carbon cycle. The carbon cycle is the pathways through which carbon is recycled in the biosphere. While cellular respiration releases carbon dioxide into the environment, photosynthesis pulls carbon dioxide out of the atmosphere. The exchange of carbon dioxide and oxygen during photosynthesis and cellular respiration worldwide helps to keep atmospheric oxygen and carbon dioxide at stable levels.

Explanation:

6 0
3 years ago
How the muscle of the back and neck can support weight of the head for long period without tiring ?
ikadub [295]
Most people will have a minor neck problem at one time or another. Our body movements usually do not cause problems, but it's not surprising that symptoms develop from everyday wear and tear, overuse, or injury. Neck problems and injuries most commonly occur during sports or recreational activities, work-related tasks, or projects around the home.
Neck pain may feel like a "kink," stiffness, or severe pain. Pain may spread to the shoulders, upper back, or arms, or it may cause a headache. Neck movement may be limited, usually more to one side than the other. Neck pain refers to pain anywhere from the area at the base of the skull into the shoulders. The neck includes:
The bones and joints of the cervical spine (vertebrae of the neck).
The discs that separate the cervical vertebrae and absorb shock as you move.
The muscles and ligaments in the neck that hold the cervical spine together.
Neck pain may be caused by an injury to one or more of these areas, or it may have another cause. Home treatment will often help relieve neck pain caused by minor injuries.
Activities that may cause neck pain
Neck pain is often caused by a strain or spasm of the neck muscles or inflammation of the neck joints. Examples of common activities that may cause this type of minor injury include:
Holding your head in a forward posture or odd position while working, watching TV, or reading.
Sleeping on a pillow that is too high or too flat or that doesn't support your head, or sleeping on your stomach with your neck twisted or bent.
Spending long periods of time resting your forehead on your upright fist or arm ("thinker's pose").
Stress. Tension may make the muscles that run from the back of the head across the back of the shoulder (trapezius muscle) feel tight and painful.
Work or exercise that uses your upper body and arms.
Sudden (acute) injuries
Minor neck injuries may result from tripping, falling a short distance, or excessive twisting of the spine. Severe neck injuries may result from whiplash in a car accident, falls from significant heights, direct blows to the back or the top of the head, sports-related injuries, a penetrating injury such as a stab wound, or external pressure applied to the neck, such as strangulation.
Pain from an injury may be sudden and severe. Bruising and swelling may develop soon after the injury. Acute injuries include:
An injury to the ligaments or muscles in the neck, such as a sprain or strain. When neck pain is caused by muscle strain, you may have aches and stiffness that spread to your upper arm, shoulder, or upper back. Shooting pain that spreads down the arm into the hand and fingers can be a symptom of a pinched nerve (nerve root compression). Shooting pain is more serious if it occurs in both arms or both hands rather than just one arm or one hand.
A fracture or dislocation of the spine. This can cause a spinal cord injury that may lead to permanent paralysis. It is important to use correct first aid to immobilize and transport the injured person correctly to reduce the risk of permanent paralysis.
A torn or ruptured disc. If the tear is large enough, the jellylike material inside the disc may leak out (herniate) and press against a nerve or the spinal cord (central disc herniation). You may have a headache, feel dizzy or sick to your stomach, or have pain in your shoulder or down your arm.
5 0
3 years ago
What is the relationship between mass and the end stages of stars?
Sever21 [200]
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3 years ago
Location of Station Time Between Arrival of P and S Waves Approximate Distance from Epicenter Length of Radius of Circle (in cm)
Eduardwww [97]

Answer:

1600km * 2 / 1000 = 3.2cm

2400km* 2/ 1000 = 4.8cm

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Explanation:

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3 years ago
Which statement summarizes the main purpose of photosynthesis?
Brut [27]
It converts light energy to chemical energy
7 0
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