Article
H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.
Science advances - 11 Mar 2022
Krajka Victor, Vulinovic Franca, Genova Mariya, Tanzer Kerstin, Jijumon A S, Bodakuntla Satish, Tennstedt Stephanie, Mueller-Fielitz Helge, Meier Britta, Janke Carsten, Klein Christine, Rakovic Aleksandar
Abstract excerpt
Mutations in the brain-specific β-tubulin 4A (TUBB4A) gene cause a broad spectrum of diseases, ranging from dystonia (DYT-TUBB4A) to hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Currently, the mechanisms of how TUBB4A variants lead to this pleiotropic manifestation remain elusive. Here, we investigated whether TUBB4A mutations causing either DYT-TUBB4A (p.R2G and p.Q424H) or H-ABC...
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