Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model
Wenchao Sheng,
Ping Wang,
Yingzi Cai
et al.
Abstract:ATP6V1B2 encodes the subunit of the vacuolar H+‐ATPase, which is an enzyme responsible for the acidification of intracellular organelles and essential for cell signaling and neurotransmitter release. The aim of the study is to identify the correlation between ATP6V1B2 and epilepsy. Trio‐exome sequencing was performed. Reverse Transcription‐PCR and Quantitative real‐time PCR analyses were carried out to determine whether this variant leads to nonsense‐mediated mRNA decay (NMD). Drosophila models with knocked‐do… Show more
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