IndraLab

Statements

KCNMA1 binds FMR1. 10 / 10
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"They later showed that the underlying mechanism for this modulation likely includes a direct interaction of FMRP with the BK channel-modulating subunit β4 (Deng and Klyachko, xref )."
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"FMRP can also directly bind to the BK channel’s pore-forming α subunit to modulate channel gating and increase BK currents ."
33828309
sparser
"Mutant FMRP that disrupts FMRP-BK channel interaction loses the ability to rescue presynaptic AP broadening in Fmr1 KO mice ( xref )."
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"More recent studies support the idea that the loss of FMRP-BK channel interactions contribute to FXS pathophysiology."
33828309
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"Given the multitude of ion channels and mechanisms that mediate presynaptic FMRP actions, it remains unclear, however, to what extent FMRP-BK channel interactions contribute to synaptic and circuit defects in FXS."
26427907
sparser
"The R138Q mutation also almost fully abolished the interaction of FMRP with the BK channel β4 subunit ( xref )."
26291156
sparser
"ERG can be explored in individuals with other rare genetic BK channelopathies, including mutations in KCNMA1 , KCNMB4 , CRBN , and the FMR1 R138Q variant (mutation at the site of FMRP binding to BK channel), to assess whether similar retinal dysfunction patterns to FXS are observed."
40725073
sparser
"This finding provides further evidence for the role of FMRP-BK channel interactions in regulation of the AP properties and suggests that this translation-independent function of FMRP is linked to a specific subset of FXS phenotypes."
26291156
sparser
"These results suggest a model in which the effects of R138Q mutation are caused by disruption of FMRP’s protein-protein interactions, including FMRP-BK channel interactions, which are important in regulating neuronal excitability and glutamate release, while retaining translational regulation functions of FMRP."
33828309
sparser
"Future work must determine how FMRP-BK channel interaction may contribute to alterations in excitatory-excitatory and/or excitatory-inhibitory connectivity observed in the hippocampus and cortex of FMR1 KO mice that has been shown to depend on pre-synaptic loss of FMRP as well (Hanson and Madison, xref ; Patel et al., xref )."
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