Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy
M. Kim, Kathryn M. Yammine, Emily T Hickey, Catalina Matias, Lou C Dubosclard, Jeffrey J. Widrick, Jeffrey J. Brault, Behzad Moghadaszadeh, Alan H. Beggs
This paper presents a mouse model of ADSS1 myopathy by knocking out Adss1 and characterizes its motor deficits and histopathological features.
Human Molecular Genetics · Nov 20, 2025Peer-reviewedGenetics