Article
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4.
Disease models & mechanisms - 1 Aug 2023
Gümüşderelioğlu Selin, Resch Lauren, Brock Trisha, Luxton G W Gant, Cope Heidi, Tan Queenie K-G, Hopkins Christopher, Starr Daniel A
Abstract excerpt
Hereditary spastic paraplegia (HSP) is a group of degenerative neurological disorders. We identified a variant in human kinesin light chain 4 (KLC4) that is suspected to be associated with autosomal-dominant HSP. How this and other variants relate to pathologies is unknown. We created a humanized Caenorhabditis elegans model in which klc-2 was replaced by human KLC4 (referred to as hKLC4) and assessed the extent...
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