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A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Ca_v2.1 P/Q-type channel gating.

ABSTRACT: P/Q-type (Ca_v2.1) calcium channels mediate Ca²⁺ influx essential for neuronal excitability and synaptic transmission. The CACNA1A gene, encoding the Ca_v2.1 pore forming subunit, is highly expressed throughout the mammalian central nervous system. Alternative splicing of Ca_v2.1 pre-mRNA generates diverse channel isoforms with distinct biophysical properties and drug affinities, which are differentially expressed in nerve tissues. Splicing variants can also affect channel function under pathological conditions although their phenotypic implication concerning inherited neurological disorders linked to CACNA1A mutations remains unknown. Here, we quantified the expression of Ca_v2.1 exon 24 (e24) spliced transcripts in human nervous system s

SUBMITTER: Sack AS

PROVIDER: S-EPMC11580629 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature

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Dataset Information

A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Ca_v2.1 P/Q-type channel gating.

OmicsDI is part of the ELIXIR infrastructure

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Dataset Information

A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Cav2.1 P/Q-type channel gating.

OmicsDI is part of the ELIXIR infrastructure

Tweets

A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Ca_v2.1 P/Q-type channel gating.