Article

The <em>ATP6V1B2 </em>DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice

2023-06-28

Abstract excerpt

The vacuolar H+-ATPase is a multisubunit enzyme which plays an essential role in the acidification and functions of lysosomes, endosomes, and synaptic vesicles. Many genes encoding subunits of V-ATPases, namely ATP6V0C, ATP6V1A, ATP6V0A1 and ATP6V1B2, have been associated with neurodevelopmental disorders and epilepsy. The autosomal dominant ATP6V1B2 p.Arg506* variant can cause both deafness, congenital, with onyc...

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Literature Corpus work: b9cdd8e5-c0d2-5d49-94a8-3285989a064d
DOI: 10.20944/preprints202306.1970.v1

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