Article

Combinatorial chloride and calcium channelopathy in myotonic dystrophy

2023-06-01

Abstract excerpt

Myotonic dystrophy type 1 (DM1) involves misregulated alternative splicing for specific genes. We used exon or nucleotide deletion to mimic altered splicing of genes central to muscle excitation-contraction coupling processes in mice. Mice with forced-skipping of exon 29 in Ca V 1.1 calcium channel combined with loss of ClC-1 chloride channel function showed a markedly reduced lifespan, whereas other combinations...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d90add28-44c2-5898-be9c-5f9390cb77a2
DOI: 10.1101/2023.05.29.542752

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Combinatorial chloride and calcium channelopathy in myotonic dystrophyDOI 10.1101/2023.05.29.542752Read

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channelSemantic proximity Read

Disruption of ER ion homeostasis maintained by an ER anion channel contributes to ALS-like pathologiesSemantic proximity Read

Disruption of ER ion homeostasis maintained by an ER anion channel CLCC1 contributes to ALS-like pathologies.Semantic proximity Read

Calcium channelopathies.Semantic proximity Read

Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.Semantic proximity Read

ClC-1 chloride channels: state-of-the-art research and future challengesSemantic proximity Read

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.Semantic proximity Read

Skeletal muscle delimited myopathy and verapamil toxicity in SUR2 mutant mouse models of AIMSSemantic proximity Read

Single myotonia mutation strikes multiple mechanisms of a chloride channel.Semantic proximity Read

Link ER ion homeostasis maintained by an ER anion channel to ALSSemantic proximity Read

A skeletal muscle L-type Ca2+ channel with a mutation in the selectivity filter (CaV1.1 E1014K) conducts K<sup/>.Semantic proximity Read

Ion channel mutations and diseases of skeletal muscle.Semantic proximity Read