Constitutively Active Mutants

Constitutively active mutants are altered genes or proteins that remain functionally active without the external signal or regulatory event that normally controls them. In cancer research, these variants typically result when mutations disrupt inhibitory regions, regulatory switches, or nucleotide-hydrolysis mechanisms, causing persistent signaling through pathways that regulate proliferation, survival, or differentiation. Researchers study or introduce such mutants to model oncogenic signaling, test pathway inhibitors, and distinguish pathway-specific effects from stimulus-dependent responses. Their activity can clarify how deregulated signaling contributes to tumor initiation and progression while helping identify therapeutic vulnerabilities.

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Education

JoVE Core - Organic Chemistry

Constitutional Isomers of Alkanes

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2023

Organic compounds of the same molecular formula can have different structural formulas called constitutional isomers, and the phenomenon is known as constitutional isomerism. Alkanes with four or more carbons showing multiple structures with the same molecular formula thereby exhibit constitutional isomerism. The linear isomer of an alkane is prefixed by the term “n”; hence a linear isomer of pentane is known as n-pentane. Based on the type of branching, some of the branched isomers are given...

Research

JoVE Journal - Biology

Functional Reconstitution and Channel Activity Measurements of Purified Wildtype and Mutant CFTR Protein

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Cited by 7 •

2015

Described here is a rapid and effective procedure for functional reconstitution of purified wild-type and mutant CFTR protein that preserves activity for this chloride channel, which is defective in Cystic Fibrosis. Iodide efflux from reconstituted proteoliposomes mediated by CFTR allows studies of channel activity and the effects of small molecules.

Constitutive and Regulated Gene Expression

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2025

Gene expression in prokaryotes is governed by constitutive and regulated systems, allowing cells to balance the production of essential proteins with adaptive responses to environmental changes.Constitutive Gene ExpressionConstitutive, or housekeeping, genes are continuously expressed as they encode proteins vital for fundamental cellular processes. These include enzymes for glycolysis, ribosomal components for protein synthesis, and proteins involved in DNA replication. Their constant...

Paradigms for Pharmacological Characterization of C. elegans Synaptic Transmission Mutants

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Cited by 20 •

2008

This video demonstrates how to employ two neural stimulants, aldicarb and pentylenetetrazole (PTZ), in complementary ways to study synaptic function in the nematode, C. elegans. This complementary approach may also be used to shed light on evolutionarily conserved mechanisms for modulating neuronal synchrony and has implications for epilepsy and seizures.

Neurocircuit Assays for Seizures in Epilepsy Mutants of Drosophila

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Cited by 6 •

2009

Using high frequency electrical stimulation, seizure-like activity can be induced in Drosophila. This activity is easily recorded from the giant fiber system.

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