Yes, it is true that Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy.
Using targeted and exome sequencing on DNA from resected brain samples and non-brain samples from 53 patients with FCD or HME, we identified pathogenic germline and mosaic mutations in multiple PI3K/AKT pathway genes in 9 patients, and a likely pathogenic variant in 1 additional patient.
Our data confirm the association of DEPDC5 with sporadic FCD but also implicate this gene for the first time in HME. Our findings suggest that modulation of the mammalian target of rapamycin pathway may hold promise for malformation-associated epilepsy.
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<span>Its Binary Fission. Natures way of asexual reproduction. To be more precise -
Fission, in biology, is the division of a single entity into two or more parts and the regeneration of those parts into separate entities resembling the original. The object experiencing fission is usually a cell, but the term may also re</span>
<h2>Clonal Selection to a Phosphorylation Cascade </h2>
Clonal selection describes the roles of compartments of the privileged operation in reply to specific antigens attacking the basis in immunology. A phosphorylation cascade is a series of situations wherever one catalyst phosphorylates is different. It makes a succession reactions driving the phosphorylation of thousands of proteins. This can be observed in omen transduction of hormone communications.
Answer;
"couples" energetically unfavorable reactions to ATP condensation in order to drive the reaction toward the required product.
Explanation;
-Metabolic pathways are designed to synthesize necessary cellular reagents as required for cellular and tissue function. To accomplish this, the reaction sequence includes both reactions that are essentially irreversible and reactions that are freely reversible (near equilibrium).
-In most cases, cells use a strategy called reaction coupling, in which an energetically favorable reaction (like ATP hydrolysis) is directly linked with an energetically unfavorable (endergonic) reaction.
