<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:Polymers are large molecules composed of many similar smaller molecules linked together. The individual smaller molecules are called monomers. ... In the molecular world, the small subunits that ultimately link together to form larger molecules are called monomers, which literallymeans "single unit" (mono = one).
Explanation:
Answer:
65
Explanation:
The DNA segment has a total 95 cytosine bases. Since cytosine makes hydrogen bonds with guanine base, this means that the DNA segment has a total 95 guanine bases.
Total guanine + cytosine bases in the segment= 95 + 95 = 190
So, a total of adenine and thymine bases in the DNA segment= 320-190 = 130
Since the number of adenine and thymine bases are equal in a double-stranded DNA molecule, the number of adenine bases in the given segment would be= 130/2= 65
Answer:i think it C srry if im wrong
Explanation:
Answer:
The statement that is not part of the cell theory is C) only animals are composed of cells.
On the other hand, A) cells are the basic unit of structure and function in living things, B) all cells are produced from other cells, and D) all living things are composed of cells are correct.
Explanation:
