Article
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Human mutation - 1 Dec 2018
Vulinovic Franca, Krajka Victor, Hausrat Torben J, Seibler Philip, Alvarez-Fischer Daniel, Madoev Harutyun, Park Jin-Sung, Kumar Kishore R, Sue Carolyn M, Lohmann Katja, Kneussel Matthias, Klein Christine, Rakovic Aleksandar
Abstract excerpt
Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum of diseases ranging from hereditary generalized dystonia with whispering dysphonia (DYT-TUBB4A) and hereditary spastic paraplegia (HSP) to leukodystrophy hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). TUBB4A encodes the brain-specific β-tubulin isotype, β-tubulin 4A. To elucidate the pathogenic mechanisms...
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