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Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A. Vulinovic F, et al. Hum Mutat. 2018 Dec;39(12):1901-1915. doi: 10.1002/humu.23602. Epub 2018 Sep 7. Hum Mutat. 2018. PMID: 30079973
However, we showed that the mutations p.D249N and p.A271T interfered with motor protein binding to microtubules and impaired neurite outgrowth and microtubule dynamics. Finally, TUBB4A mutations, as well as heterozygous knockout of TUBB4A, disru …
However, we showed that the mutations p.D249N and p.A271T interfered with motor protein binding to microtubules and imp …