Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E.
Sferra A, et al.
Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096.
Hum Mol Genet. 2018.
PMID: 29547997
Impaired binding to KIF1A, a neuron-specific kinesin required for transport of synaptic vesicle precursors of the disease-associated TUBB2A mutant, was predicted by structural analyses and confirmed experimentally in vitro. ...
Impaired binding to KIF1A, a neuron-specific kinesin required for transport of synaptic vesicle precursors of the disease-associated TUBB2A …