Combinatorial chloride and calcium channelopathy in myotonic dystrophy.


Journal

bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
01 Jun 2023
Historique:
pubmed: 3 7 2023
medline: 3 7 2023
entrez: 3 7 2023
Statut: epublish

Résumé

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

Identifiants

pubmed: 37398406
doi: 10.1101/2023.05.29.542752
pmc: PMC10312834
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NIAMS NIH HHS
ID : R01 AR079424
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM135134
Pays : United States
Organisme : NIDCR NIH HHS
ID : T90 DE021985
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002001
Pays : United States

Déclaration de conflit d'intérêts

Competing interests: J.D.L., L.A.C. and C.A.T. are co-inventors of the technology presented in this study. PCT/US22/79593 Claims Priority to U.S. Provisional Patent Application Nos. 63/277,816 & 63/374,378, Title: TREATMENT OF MYOTONIC DISORDERS. Inventors - University of Rochester School of Medicine and Dentistry – Inventors - J.D.L., L.A.C. and C.A.T. pertains to the use of verapamil to treat myotonic disorders in this study.

Auteurs

Lily A Cisco (LA)

Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.

Matthew T Sipple (MT)

Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.

Katherine M Edwards (KM)

Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.

Charles A Thornton (CA)

Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, Rochester, NY 14642, USA.
Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, Rochester, NY 14642, USA.

John D Lueck (JD)

Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, Rochester, NY 14642, USA.
Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, Rochester, NY 14642, USA.

Classifications MeSH