2021
DOI: 10.1538/expanim.20-0105
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PHF24 is expressed in the inhibitory interneurons in rats

Abstract: Noda epileptic rat (NER) is a mutant model for epilepsy that exhibits spontaneous generalized tonic-clonic seizure. Epileptogenesis of NER remains to be elucidated; but it is detected an insertion of an endogenous retrovirus sequence in intron 2 of the PHD finger protein 24 (Phf24) gene, encoding Gαi-interacting protein (GINIP). Phf24 is a strong candidate gene for epileptogenesis in NER. PHF24 modulates GABA B signaling through interacting with Gαi protein. To clarify the epileptogenesis of NER, we investigat… Show more

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Cited by 3 publications
(2 citation statements)
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“…Amyloid precursor protein ( APP ) is the precursor to the AD hallmark pathology Aβ, and, while characteristic of Lewy body diseases, α-synuclein ( SNCA ) aggregates are highly prevalent in AD postmortem brains as well. 85 PHF24 is a modulator of GABA B receptor activity 86 and was recently identified in a study of AD resilience genes. 87 ADAMTS1 has been implicated in AD both biochemically 88 and genetically.…”
Section: Discussionmentioning
confidence: 99%
“…Amyloid precursor protein ( APP ) is the precursor to the AD hallmark pathology Aβ, and, while characteristic of Lewy body diseases, α-synuclein ( SNCA ) aggregates are highly prevalent in AD postmortem brains as well. 85 PHF24 is a modulator of GABA B receptor activity 86 and was recently identified in a study of AD resilience genes. 87 ADAMTS1 has been implicated in AD both biochemically 88 and genetically.…”
Section: Discussionmentioning
confidence: 99%
“…Some disease-causing mutations of KCC2 affected the surface transport, whereas the exact trafficking signals were not defined ( Tang, 2016 ). Phf24 is expressed in the presynaptic terminals, synaptic membranes, and cytoplasmic matrix of neuronal soma of the inhibitory interneurons ( Numakura et al, 2021 ). It acts as an inhibitory modulator in epileptogenesis through association with the GABA B receptor, the most abundant inhibitory G protein (Gi/o)-coupled receptors in the mammalian brain ( Serikawa et al, 2019 ).…”
Section: Discussionmentioning
confidence: 99%