Ontology highlight
ABSTRACT:
ORGANISM(S): Sus Scrofa
SUBMITTER: Tadayuki Ogawa
PROVIDER: PXD026083 | JPOST Repository | Thu Dec 23 00:00:00 GMT 2021
REPOSITORIES: jPOST
Morikawa Manatsu M Jerath Nivedita U NU Ogawa Tadayuki T Morikawa Momo M Tanaka Yosuke Y Shy Michael E ME Zuchner Stephan S Hirokawa Nobutaka N
The EMBO journal 20220208 5
The mechanochemical coupling of ATPase hydrolysis and conformational dynamics in kinesin motors facilitates intramolecular interaction cycles between the kinesin motor and neck domains, which are essential for microtubule-based motility. Here, we characterized a charge-inverting KIF1A-E239K mutant that we identified in a family with axonal-type Charcot-Marie-Tooth disease and also in 24 cases in human neuropathies including spastic paraplegia and hereditary sensory and autonomic neuropathy. We s ...[more]