Article
Caenorhabditis elegans models of alternating hemiplegia of childhood have dominant neuromuscular junction defects.
Disease models & mechanisms - 1 May 2026
Wall Diana A, Friedberg Adam M, Lins Jeremy, Khalifa Roza, Partipillo Sienna, Hart Anne C
Abstract excerpt
Dominant missense mutations in ATP1A3, encoding ATPase Na+/K+-transporting subunit alpha3, can cause the neurological disorder alternating hemiplegia of childhood (AHC), but how these mutations lead to AHC remains unclear. Here, we established the first Caenorhabditis elegans AHC models by introducing AHC-causing ATP1A3 mutations (i.e. D801N, E815K, L839P and G947R substitutions) into the orthologous gene eat-6...
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