A humanized Caenorhabditis elegans model of Hereditary Spastic Paraplegia-associated variants in kinesin light chain KLC4
S. Gumusderelioglu, L. Resch, T. Brock, Undiagnosed Diseases Network, G. G. Luxton, Q. K.-G. Tan, C. E. Hopkins, D. A. Starr
The paper identifies a KLC4 variant linked to Hereditary Spastic Paraplegia and tests its effects in a humanized C. elegans model, showing early lethality and nuclear migration defects in homozygous variants.
bioRxiv · Jan 7, 2023 · PreprintCell Biology