Ontology highlight
ABSTRACT:
SUBMITTER: Chiba K
PROVIDER: S-EPMC6744892 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Chiba Kyoko K Takahashi Hironori H Chen Min M Obinata Hiroyuki H Arai Shogo S Hashimoto Koichi K Oda Toshiyuki T McKenney Richard J RJ Niwa Shinsuke S
Proceedings of the National Academy of Sciences of the United States of America 20190827 37
KIF1A is a kinesin family motor involved in the axonal transport of synaptic vesicle precursors (SVPs) along microtubules (MTs). In humans, more than 10 point mutations in <i>KIF1A</i> are associated with the motor neuron disease hereditary spastic paraplegia (SPG). However, not all of these mutations appear to inhibit the motility of the KIF1A motor, and thus a cogent molecular explanation for how <i>KIF1A</i> mutations lead to neuropathy is not available. In this study, we established in vitro ...[more]