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Updated: Jun 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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CACNA1A和ATP1A2变体之间的关联是严重神经发育障碍的原因

Charlotte Mouraux1,2, Serpil Alkan2,3, Jean-Hubert Caberg2

  • 1GIGA - Cyclotron Research Center (CRC) - Rare Movement Disorders Research Group, University of Liège, Liège, Belgium.

Neuropediatrics
|December 12, 2024
PubMed
概括

ATP1A2和CACNA1A基因中的遗传变异可能导致神经发育障碍. 这项研究强调了它们在患有性脑病症的儿童中的综合作用,表明了协同作用.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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Published on: December 1, 2017

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Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

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ATP Synthase: Mechanism

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ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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