<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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okay you're because like a is a circulatory and be a civil respiratory is the
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A multicellular organism develops from a single cell (the zygote) into a collection of many different cell types, organized into tissues and organs.During development, cells use both intrinsic, or inherited, information and extrinsic signals from neighbors to "decide on" their behavior and identity.
<span> white blood cells tend to have a higher surface to volume ratio then other cells because the are more amorphous</span>
The statement that is true is active transport moves against the concentration gradient.
<h3>WHAT IS ACTIVE TRANSPORT</h3>
Active transport is one of the two types of cellular transport that involves the movement of molecules against a concentration gradient.
This moves that movement occurs from a region of lower concentration to a region of higher concentration. Since movement is against a concentration gradient, it involves input of energy (ATP).
Therefore, the statement that is true is active transport moves against the concentration gradient.
Learn more about active transport at: brainly.com/question/2503897
