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Condition: Disability
Drug: Verapamil
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Total 2 results found since Jan 2013.
Skeletal muscle delimited myopathy and verapamil toxicity in SUR2 mutant mouse models of AIMS
EMBO Mol Med. 2023 May 8:e16883. doi: 10.15252/emmm.202216883. Online ahead of print.ABSTRACTABCC9-related intellectual disability and myopathy syndrome (AIMS) arises from loss-of-function (LoF) mutations in the ABCC9 gene, which encodes the SUR2 subunit of ATP-sensitive potassium (KATP ) channels. KATP channels are found throughout the cardiovascular system and skeletal muscle and couple cellular metabolism to excitability. AIMS individuals show fatigability, muscle spasms, and cardiac dysfunction. We found reduced exercise performance in mouse models of AIMS harboring premature stop codons in ABCC9. Given the roles of KA...
Source: Molecular Medicine - May 8, 2023 Category: Molecular Biology Authors: Conor McClenaghan Maya A Mukadam Jacob Roeglin Robert C Tryon Manfred Grabner Anamika Dayal Gretchen A Meyer Colin G Nichols Source Type: research
